Geographical analysis of the Amarna mummies was performed using their autosomal STR profiles based on 8 tested loci. 4
Results are summarized in Table 1 and illustrated in Figure 1. Maps for individual Amarna mummies are included in Figures 2-8 in the Appendix.
Discussion: Average MLI scores in Table 1 indicate the STR profiles of the Amarna mummies would be most frequent in present day populations of several African regions: including the Southern African (average MLI 326.94), African Great Lakes (average MLI 323.76), and Tropical West African (average MLI 83.74) regions.
These regional matches do not necessarily indicate an exclusively African ancestry for the Amarna pharaonic family. However, results indicate these ancient individuals inherited some alleles that today are more frequent in populations of Africa than in other parts of the world (such as D18S51=19 and D21S11=34).
posted
I admit that I would find this report more credible if it was published in a peer-reviewed journal by scientists not affiliated with a private corporation, but if DNATribes is legit, this is totally sweet!
posted
I posted this on my DA journal and got this response:
quote:Apologies - I don't intend to spoil this and the research may even be correct, but, as a company, they seem to be pretty dodgy. To their credit, they do give a link back to where they took their data. This link goes to what appears to be a genuine pathology report with citations, which allows you to check out the data yourself and also justifies the conclusions that scholars have drawn from it. It would appear that the DNATribes people have merely taken the data and used their own interpretative technique. Unfortunately, in their report, they don't give details of what this technique is (it says patent pending, so it would seem that its efficacy may well be unconfirmed) and they have given no citations and no explanation of how they reached their conclusions. They also then go on to try and sell their product. Personally, I'd be wary of anything that purports to be a scientific report, but does not explain the research they are basing their conclusions on.
posted
Who cares what techniques which were used, when you plug in the values manually yourself they are all markers which seem to be exclusively found in African populations, while some also appear outside of the continent.
Posts: 4 | Registered: Dec 2011
| IP: Logged |
quote:Originally posted by Venom: Who cares what techniques which were used, when you plug in the values manually yourself they are all markers which seem to be exclusively found in African populations, while some also appear outside of the continent.
And how would you go about plugging in those values manually?
Don't get me wrong, I really want these results to be valid, but I don't know if we can trust a report that wasn't published in a peer-reviewed journal yet.
Posts: 7069 | From: Fallbrook, CA | Registered: Mar 2004
| IP: Logged |
quote:Originally posted by Venom: Who cares what techniques which were used, when you plug in the values manually yourself they are all markers which seem to be exclusively found in African populations, while some also appear outside of the continent.
And how would you go about plugging in those values manually?
Don't get me wrong, I really want these results to be valid, but I don't know if we can trust a report that wasn't published in a peer-reviewed journal yet.
The markers DNATribes used came from STRs from this article
which is a published study. Even without DNATRIBES if you research the STRs which were found in the mummies they are exclusively of African origin. DNAtribes just reaffirmed what was already known.
Posts: 4 | Registered: Dec 2011
| IP: Logged |
quote:Originally posted by Venom: Who cares what techniques which were used, when you plug in the values manually yourself they are all markers which seem to be exclusively found in African populations, while some also appear outside of the continent.
And how would you go about plugging in those values manually?
Don't get me wrong, I really want these results to be valid, but I don't know if we can trust a report that wasn't published in a peer-reviewed journal yet.
Well they analyzed my DNA and my ancestry percentages were nearly the same I got from 4 other companies, but even peer-reviewed journals can be flawed.
Posts: 2595 | From: Vicksburg | Registered: Feb 2006
| IP: Logged |
quote:Originally posted by Venom: Who cares what techniques which were used, when you plug in the values manually yourself they are all markers which seem to be exclusively found in African populations, while some also appear outside of the continent.
And how would you go about plugging in those values manually?
Don't get me wrong, I really want these results to be valid, but I don't know if we can trust a report that wasn't published in a peer-reviewed journal yet.
The markers DNATribes used came from STRs from this article
which is a published study. Even without DNATRIBES if you research the STRs which were found in the mummies they are exclusively of African origin. DNAtribes just reaffirmed what was already known.
Fair enough. Still, it would have been nice if DNATribes mentioned their methodology in their reports, if only to give them greater credibility.
Posts: 7069 | From: Fallbrook, CA | Registered: Mar 2004
| IP: Logged |
Horners totally lag behind in closeness to mid 18th dy pharaoh's when it comes to these STR profiles. Not just behind Western, Central and Southern Africans; they're totally dwarfed by Bantu Speakers when it comes to closeness to 18th dy pharaoh's, in frequencies of these particular STR profiles.
At the end of the day, genetics have the last word when stacked up against craniofacial analysis (which typically favors Horners as among the closest to AE).
What African peoples are the closest to Ancient Egyptians? One things for sure though, plenty of ammunition for Clyde's ''inner African Egypt''.
I'm not poking fun of him anymore; perhaps its time to review, or at least add nuance what seems to have become the consensus. The severe cases sickle cell in predynastic AE mummies, AE bacteria associated with inner Africa, high levels Sub-Saharan Nry markers (M60) in modern Egyptians that only reach modest levels in the Horn, and now this. The plot thickens..
Posts: 8785 | From: Discovery Channel's Mythbusters | Registered: Dec 2009
| IP: Logged |
posted
Absolutely superb find Bass! Nail in the coffin?
For Truth:
quote:Q: What is the scientific basis for DNA Tribes method of analysis?
A: DNA Tribes® is a private firm specializing in genetic ancestry analysis, including both geographical analysis of world populations and the comparison of individuals to living populations and world regions. DNA Tribes’ proprietary analysis has been developed by Dr. Eduardas Valaitis, who received his Doctorate in Statistics from Yale University in 2005. Dr. Valaitis has been an Assistant Professor in the Department of Mathematics and Statistics at American University in Washington, D.C. Dr. Valaitis’ background includes extensive work in multivariate analysis and classification, which involves identifying mathematical structure present within large and complex datasets. This expertise allows DNA Tribes to perform a uniquely detailed and comprehensive analysis of world populations to identify genetic structure on an objective mathematical basis. All data used in our analysis come from peer-reviewed scientific studies of world populations. Our unique U.S. Patent Pending method of analysis is available exclusively through DNA Tribes.
Q: Is DNA Tribes proprietary method of analysis available elsewhere?
No. Some forensic calculators use the CODIS STR markers used for DNA Tribes genetic ancestry analysis. However, these calculators use forensic match calculations that are inappropriate for genetic ancestry analysis. DNA Tribes analysis is based on a unique, patent pending genetic ancestry algorithm developed by Dr. Eduardas Valaitis (Ph.D. in Statistics, Yale University 2005) available exclusively through DNAtribes.com.
Q: What genetic markers are used for DNA Tribes analysis?
Truthcentric, you are right to be skeptical, however, you are indeed being overly critical in my opinion. While the report is "non-scientific" for the mere fact that it is non-replicable via their methodology, that doesn't strip their conclusions of its epistemological foundation. Indeed, the fact that the source is posted means that it is falsifiable, so we don't need to uncover their method to confirm or dis confirm their results. While all of these companies should be taken with a grain of salt, the accuracy in broad terms I deem trustworthy and trust these results as much as I'd trust my own (and trust me, if my results came back positive for African markers I'd believe it).
Posts: 4021 | From: Bay Area, CA | Registered: Mar 2007
| IP: Logged |
Horners totally lag behind in closeness to mid 18th dy pharaoh's when it comes to these STR profiles.
I noticed that 'irony' as well. Maybe there's some truth to the "mountains of the moon" 'myth' Posts: 4021 | From: Bay Area, CA | Registered: Mar 2007
| IP: Logged |
Horners totally lag behind in closeness to mid 18th dy pharaoh's when it comes to these STR profiles. Not just behind Western, Central and Southern Africans; they're totally dwarfed by Bantu Speakers when it comes to closeness to 18th dy pharaoh's, in frequencies of these particular STR profiles.
At the end of the day, genetics have the last word when stacked up against craniofacial analysis (which typically favors Horners as among the closest to AE).
What African peoples are the closest to Ancient Egyptians? One things for sure though, plenty of ammunition for Clyde's ''inner African Egypt''.
I'm not poking fun of him anymore; perhaps its time to review, or at least add nuance what seems to have become the consensus. The severe cases sickle cell in predynastic AE mummies, AE bacteria associated with inner Africa, high levels Sub-Saharan Nry markers (M60) in modern Egyptians that only reach modest levels in the Horn, and now this. The plot thickens..
The South and Central African ties surprised me too. Then again, the Nile does flow from one of the Great Lakes, so perhaps this indicates ancient Egyptians having ancestry from further upriver?
Posts: 7069 | From: Fallbrook, CA | Registered: Mar 2004
| IP: Logged |
quote:Originally posted by Sundjata: Absolutely superb find Bass! Nail in the coffin?
For Truth:
quote:Q: What is the scientific basis for DNA Tribes method of analysis?
A: DNA Tribes® is a private firm specializing in genetic ancestry analysis, including both geographical analysis of world populations and the comparison of individuals to living populations and world regions. DNA Tribes’ proprietary analysis has been developed by Dr. Eduardas Valaitis, who received his Doctorate in Statistics from Yale University in 2005. Dr. Valaitis has been an Assistant Professor in the Department of Mathematics and Statistics at American University in Washington, D.C. Dr. Valaitis’ background includes extensive work in multivariate analysis and classification, which involves identifying mathematical structure present within large and complex datasets. This expertise allows DNA Tribes to perform a uniquely detailed and comprehensive analysis of world populations to identify genetic structure on an objective mathematical basis. All data used in our analysis come from peer-reviewed scientific studies of world populations. Our unique U.S. Patent Pending method of analysis is available exclusively through DNA Tribes.
Q: Is DNA Tribes proprietary method of analysis available elsewhere?
No. Some forensic calculators use the CODIS STR markers used for DNA Tribes genetic ancestry analysis. However, these calculators use forensic match calculations that are inappropriate for genetic ancestry analysis. DNA Tribes analysis is based on a unique, patent pending genetic ancestry algorithm developed by Dr. Eduardas Valaitis (Ph.D. in Statistics, Yale University 2005) available exclusively through DNAtribes.com.
Q: What genetic markers are used for DNA Tribes analysis?
Truthcentric, you are right to be skeptical, however, you are indeed being overly critical in my opinion. While the report is "non-scientific" for the mere fact that it is non-replicable via their methodology, that doesn't strip their conclusions of its epistemological foundation. Indeed, the fact that the source is posted means that it is falsifiable, so we don't need to uncover their method to confirm or dis confirm their results. While all of these companies should be taken with a grain of salt, the accuracy in broad terms I deem trustworthy and trust these results as much as I'd trust my own (and trust me, if my results came back positive for African markers I'd believe it).
Right now it's mainly the "patent pending" part that makes me less than 100% willing to accept this uncritically, but given Valaitis's credentials I have less concerns about its validity than I did earlier.
Posts: 7069 | From: Fallbrook, CA | Registered: Mar 2004
| IP: Logged |
quote:Originally posted by Sundjata: Maybe there's some truth to the "mountains of the moon" 'myth'
Here's another alternative: Horners once had a markedly different gene pool than they do today. The Egyptians could have still come from the Horn but the population from which they branched off was for some reason different from modern Horners.
Posts: 7069 | From: Fallbrook, CA | Registered: Mar 2004
| IP: Logged |
Originally posted by Swenet: he severe cases sickle cell in predynastic AE mummies, AE bacteria associated with inner Africa..
Swenet, can you post a link or ref to the above data on the sickle cell? I have seen an article on Tut but what other AE mummies for sickle cell and the bacteria?
When we think about it, it is no surprise to ES vets to find such African lineages represented among various AE royals. Part of the validation of DNA data is how well they jibe with other data- like limb proportions, or cultural data via archaeology. Keita recommends a balanced package of analysis.
Originally posted by Truthcentric: Here's another alternative: Horners once had a markedly different gene pool than they do today. The Egyptians could have still come from the Horn but the population from which they branched off was for some reason different from modern Horners.
Possibly. Given the fluctuating climate ranges of the Sahara, there could have been multiple movements in and out of the Nile Valley, blending tropical African tribes and peoples from a variety of places- another caveat that renders rigid and artificial "sub-Saharan" models suspect. Tropical Africans are not static entities, huddling behind some convenient sub-Saharan "apartheid" line. They move all over the continent.
Posts: 5905 | From: The Hammer | Registered: Aug 2008
| IP: Logged |
To recap, whatever may have been said about his mummy, Yuya, (one of) the paternal ancestor of the pharaoh's discussed above, was depicted in darkbrown skin coloration. The following scenes are from the book of the dead, found in his tomb. The bottom scene depicts him with his wife, Tjuya:
posted
^^Indeed. Here is a piece of archaeo-cultural evidence that builds a balanced set of lines of evidence.
PS: Thanks- good link. The abstract is worth posting.
--------------------------------------------------------- Boll Soc Ital Biol Sper. 1999 May-Jun;75(5-6):27-30. Use of the amplification refractory mutation system (ARMS) in the study of HbS in predynastic Egyptian remains. Marin A, Cerutti N, Massa ER. Source
Dipartimento di Biologia Animale e dell'Uomo, Università degli Studi di Torino. Abstract
We conducted a molecular investigation of the presence of sicklemia in six predynastic Egyptian mummies (about 3200 BC) from the Anthropological and Ethnographic Museum of Turin. Previous studies of these remains showed the presence of severe anemia, while histological preparations of mummified tissues revealed hemolytic disorders. DNA was extracted from dental samples with a silica-gel method specific for ancient DNA. A modification of the polymerase chain reaction (PCR), called amplification refractory mutation system (ARMS) was then applied. ARMS is based on specific priming of the PCR and it permits diagnosis of single nucleotide mutations. In this method, amplification can occur only in the presence of the specific mutation being studied. The amplified DNA was analyzed by electrophoresis. In samples of three individuals, there was a band at the level of the HbS mutated fragment, indicating that they were affected by sicklemia. On the basis of our results, we discuss the possible uses of new molecular investigation systems in paleopathological diagnoses of genetic diseases and viral, bacterial and fungal infections.
Posts: 5905 | From: The Hammer | Registered: Aug 2008
| IP: Logged |
As when looking into DNAtribes last month it still holds their arriving at group assignments is not a statistical mystery. Once a good size number of global samples exist it's simple interpolation.
Each sample has it's own haplotype of alleles. Certain regions will have a higher number of the same or very near the same haplotype over samples in a limited geography. Unlike not for profit peer reviewed scientific reports DNAtribes is not publishing the haplotype(s) associated with the geographies.
For customer paid reports DNAtribes uses either 15, 21 or 27 STR autosomes to assign a haplotype which is then checked against so many individual populations in their database.
For the Amarna mummy article DNAtribes used a stripped down 8 loci haplotype which in this case we know includes D13S317, D7S820, D2S1338, D21S11, D16S539, D18S51, CSF1PO, FGA. We know the values of these polymorphic microsatellites and anybody can compare and match these to a pop db (eg., DNAtribes lets on that both D18S51=19 and D21S11=34 are African specific markers by frequency). a Identified as Tiye b Identified as Akhenaten
If I'm not mistaken these are maternal markers. DNAtribes did not use any paternal markers so their MLI (Match Likelihood Index) scores are indicative only of the mummies female lineage.
I am confident of the basic validity of DNAtribes' findings on the maternal lineage of the Amarna mummies but I do note their Table 1 indices for Yuya do not list the Americas populations circled on Yuya's regional analysis map Appendix Figure 3. Perhaps it is just a glitch.
I see no reason to distrust DNAtribes' science behind the region matching in their January 1, 2012 article.
I commend DNAtribes for not making a press release touting their find the way less reputable companies have done even though DNAtribes' analysis is without doubt based on the actual raw data (not screen shots) of Hawass and the Egyptian laboratories report as in JAMA. 2010;303(7):638-647.
.
.
Hb S can be informative of either African or Indian ancestry. Hb S can pinpoint a particular African region, either greater SW Nigeria region (Benin haplotype), greater Sene-Gambian W.Africa region (Senegal haplotype), greater central Africa (Bantu haplotype) or the Cameroon locality (Cameroon haplotype). See the thread African, or Near Eastern and Southern European connections via HbS.
Adapted from Ragusa et al 1990 by
Which haplotype did the pre-dynastic mummies have and did Tut have sickle cell or did he succumb to malaria?
Posts: 8014 | From: the Tekrur in the Western Sahel | Registered: Feb 2006
| IP: Logged |
quote:I noticed that 'irony' as well. Maybe there's some truth to the "mountains of the moon" 'myth'
Truthcentric
quote:The South and Central African ties surprised me too. Then again, the Nile does flow from one of the Great Lakes, so perhaps this indicates ancient Egyptians having ancestry from further upriver?
While I do read but rarely comment on DNA stuff if this holes up, then this would confirm what I and others like Asar Imhotep had been saying all along about the cultural stuff stemming from the Great Lakes regions and the much hated and disrespected "heart of darkness Congo",with the unga bunga taunts and jokes
Posts: 6546 | From: japan | Registered: Feb 2009
| IP: Logged |
If I'm not mistaken these are maternal markers. DNAtribes did not use any paternal markers so their MLI (Match Likelihood Index) scores are indicative only of the mummies female lineage.
What makes you calculate that the atDNA markers listed are maternally-mediated?
quote: Which haplotype did the pre-dynastic mummies have and did Tut have sickle cell or did he succumb to malaria?
There is only one type in Egypt to this day: The Benin haplotype!
Posts: 7516 | From: Somewhere on Earth | Registered: Jan 2008
| IP: Logged |
The South and Central African ties surprised me too. Then again, the Nile does flow from one of the Great Lakes, so perhaps this indicates ancient Egyptians having ancestry from further upriver?
But it shouldn't surprise you. Populations retreating from the desiccating Sahara had found their way southward, not only to the coastal areas of the north.
Posts: 7516 | From: Somewhere on Earth | Registered: Jan 2008
| IP: Logged |
Here's another alternative: Horners once had a markedly different gene pool than they do today. The Egyptians could have still come from the Horn but the population from which they branched off was for some reason different from modern Horners.
Considering your alternative, there must have been some changes through the ages, since the Benin haplotype HbS persists in Egyptian population today, whereas it is all but absent in the African Horn.
Additionally, ties to African populations presently distant from Egypt should not puzzle anyone in the know, since the core ancient Egyptian population would have ultimately drawn from a shared ancestral gene pool that crosscuts the different living African populations, aside from more recent common origins in the Saharan belt.
Posts: 7516 | From: Somewhere on Earth | Registered: Jan 2008
| IP: Logged |
TRUTH is coming out confirming everything we debate on these forums about.
So now actual links to WA, SA etc. Mountain of the Moon is true after all.
The funny thing is that most Afrocentrics would of been happy with just links to the Horn, but this bypasses the Horn and goes straight to the West and South. Very Good news.
The greater news is that these people doing these studies are Europeans and Americans who are not blinded by keeping the Eurocentric ideas as valid. It's just ordinary truthseekers who want the truth no matter what it is and it is showing up as More PRO Africa then ever.
Of course with the Benin Sickle gene in Modern Egypt and the Mummies, this already showed West African contacts. So this news should not be an surprise at all. Clyde Winters is right.
Peace
Posts: 9651 | From: Reace and Love City. | Registered: Oct 2005
| IP: Logged |
posted
LOL! Clyde Winters wasn't the first to say this. Not by a long shot. The only thing Clyde does is try to tie everything to Mande peoples and Mande languages which is absolutely not the same as say what Diop or Obenga were doing.
As for the Mountains of the Moon and ties to Southern Africa, people are missing the clues in Egyptian cosmology. The ancient Egyptians called inner Africa "Gods land"? Why? Because they themselves acknowledged and understood that humanity was born inside Africa. That is the core of their cosmology. When you see the diety Min depicted as jet black it is a symbol of God's seed in man originating in Africa.
The Egyptians knew that humanity originated in Africa and that they themselves along with many of their traditions and gods originated there as well.
They knew what modern biology just found out with DNA studies thousands of years ago. But then again, people don't realize the symbolism of Isis as the basis of biological understanding in ancient Egypt. As mother nature Isis or Hathor symbolizes the female chromosome, the incubator and the gene pool and Osiris represents the X chromosome, the male principle and the seed for the male gene pool.
Posts: 8889 | Registered: May 2005
| IP: Logged |
The South and Central African ties surprised me too. Then again, the Nile does flow from one of the Great Lakes, so perhaps this indicates ancient Egyptians having ancestry from further upriver?
But it shouldn't surprise you. Populations retreating from the desiccating Sahara had found their way southward, not only to the coastal areas of the north.
Many African populations have traditions relating to how they migrated from the North. The Tutsi are one example of this and they say they came from the Nile Valley. Not to mention that the Zulus themselves migrated from the North as well. Most of this gets lost and overlooked because the migrations are associated with "bantus" which most people do not associate with the Nile Valley.
Posts: 8889 | Registered: May 2005
| IP: Logged |
posted
Oh, boy. This study seems kinda hokey to me with the groups they have listed, ex: "mediterranean", "arabian" (yea, ok, my ass).
I think explorer made the best point below (instead of talking about mountain of the moon and "clyde was right" when we all already know AE's arrived in egypt from other areas of africa):
quote:Originally posted by The Explorer: Additionally, ties to African populations presently distant from Egypt should not puzzle anyone in the know, since the core ancient Egyptian population would have ultimately drawn from a shared ancestral gene pool that crosscuts the different living African populations, aside from more recent common origins in the Saharan belt.
quote:Originally posted by africurious: Oh, boy. This study seems kinda hokey to me with the groups they have listed, ex: "mediterranean", "arabian" (yea, ok, my ass).
I would have liked to see them break down those regional clusters so we would have an idea of exactly which ethnic groups were closest to Egyptians. Given the South African connections, they would totally grab headlines if they invoked the Zulu as close relatives of the Egyptians.
Posts: 7069 | From: Fallbrook, CA | Registered: Mar 2004
| IP: Logged |
posted
What populations did they study, "Horn or Africa" and "Southern African" is quite unclear. I would have thought the Great Lakes and Horners would be closer to the Egyptians given the proximity, but South Africans??
quote:Originally posted by Sundjata:
quote:Originally posted by Swenet: [QB]
Now would you look at that.
Horners totally lag behind in closeness to mid 18th dy pharaoh's when it comes to these STR profiles.
I noticed that 'irony' as well. Maybe there's some truth to the "mountains of the moon" 'myth'
Posts: 8804 | From: The fear of his majesty had entered their hearts, they were powerless | Registered: Nov 2007
| IP: Logged |
posted
I'm interpreting the data differently; Bantu ethnies aren't from the Nile Valley region.
The features of Bantu speaking Africans most likely originated in their respective regions, not in arid/hyper arid desert regions.
Their great cranio-facial diversity, which is much more pronounced than that of the Northeast African Elongated types, would need much more time to cristallize if they migrated only recently from the Nile Valley.
IMO, the STR profiles show South/Central African ancestry that was brought to Egypt by peoples who migrated North from South/Central Africa a long time prior to the Bantu migration.
---------------------
My thoughts:
Markers such as Haplotype IV, M60, HbS, and the above STR's are not associated with Elongated Northeast Africans, yet, they are/were found in Egypt in abundance. Those markers were likely brought to Egypt by people who underwent a similar arid/hyperarid evolution process as the ancestors of the Afrasan speakers that now sport an elongated appearance (eg, Borano, Afar, Somali's etc). Why? Because all Nile Valley populations tend to cluster together[/i], phenotypically speaking, with contemporary material (eg, Mesolithic Sudan clusters with Mesolithic Egypt, Neolithic Sudan clusters with Neolithic Egypt), even though we KNOW that some of those exact same similar looking Nile-Valley populations had very different ethnic/linguistic (and thus genetic) backgrounds.
We know this because Ehret and other linguistic scholars are correlating Nilo Saharan languages with some of those complexes.
This is all discernable because such groups are extant today, allowing for such extrapolation, but what about other other potential groups that could have and would have assimulated? The diversity of ethno-lingistic groups coupled with Nile Valley populational homogeneity agrees with the earlier mentioned possibility that other, genetically way more Southern, groups could have slipped past our limited skeletal radar as well.
This is the only explanation I can come up with, that can explain the above markers in conjunction with the seemingly incongruent skeletal evidence. The ancestors of the present day (genetically) closely related elongated Somali/Ethiopian/Sudanic/Egyptian populations lost their still somewhat generalized, late-Paleolithic broadly African features (seen in Jebel Sahabans, Wadi Halfans, Late Paleolithic Esnans, Mushabeans, Late Paleolithic Wadi Kubbaniyans) alongside some other, by then genetically differentiated (but not so much physically) Sub Saharan Africans (ie, they would have been rich in E-V38, M60 and other typically Sub Saharan markers that can be seen in Egypt today, but not so much in the aforementioned Horn populations).
Posts: 8785 | From: Discovery Channel's Mythbusters | Registered: Dec 2009
| IP: Logged |
quote:Originally posted by -Just Call Me Jari-: What populations did they study, "Horn or Africa" and "Southern African" is quite unclear. I would have thought the Great Lakes and Horners would be closer to the Egyptians given the proximity, but South Africans??
quote:Originally posted by Sundjata:
quote:Originally posted by Swenet: [QB]
Now would you look at that.
Horners totally lag behind in closeness to mid 18th dy pharaoh's when it comes to these STR profiles.
I noticed that 'irony' as well. Maybe there's some truth to the "mountains of the moon" 'myth'
They didn't study anything. They took the data Zawi Hawas wished was not suited for populational comparison (he knows whatsup, which is why he always hides affinity revealing data), from the study he led in 2010, and compared it with pre-existing global STR data they had in their databases.
Posts: 8785 | From: Discovery Channel's Mythbusters | Registered: Dec 2009
| IP: Logged |
Tukuler
multidisciplinary Black Scholar
Member # 19944
posted
Precisely. I'm still looking for an online STR profile frequency matcher with extensive varied African populations in their Db and that works well without ambiguous results when entering the AmpFℓSTR® MiniFiler ™ PCR Amplification Kit's 8 loci paired values.
Posts: 8179 | From: the Tekrur straddling Senegal & Mauritania | Registered: Dec 2011
| IP: Logged |
quote:Originally posted by -Just Call Me Jari-: What populations did they study, "Horn or Africa" and "Southern African" is quite unclear. I would have thought the Great Lakes and Horners would be closer to the Egyptians given the proximity, but South Africans??
quote:Originally posted by Sundjata:
quote:Originally posted by Swenet: [QB]
Now would you look at that.
Horners totally lag behind in closeness to mid 18th dy pharaoh's when it comes to these STR profiles.
I noticed that 'irony' as well. Maybe there's some truth to the "mountains of the moon" 'myth'
They didn't study anything. They took the data Zawi Hawas wished was not suited for populational comparison (he knows whatsup, which is why he always hides affinity revealing data), from the study he led in 2010, and compared it with pre-existing global STR data they had in their databases.
Yes! Zawi Hawas has been trying to hide the truth for a while.
Posts: 4 | Registered: Dec 2011
| IP: Logged |
quote:Originally posted by Truthcentric: I would have liked to see them break down those regional clusters so we would have an idea of exactly which ethnic groups were closest to Egyptians. Given the South African connections, they would totally grab headlines if they invoked the Zulu as close relatives of the Egyptians.
South African = Capoid.
The study (not that its to be trusted as its not peer-reviewed) clusters those egyptian mummies closest to Capoids who are non-negroid.
The afronuts are basically debunking themselves. Posts: 2408 | From: My mother's basement | Registered: Dec 2010
| IP: Logged |
quote:Originally posted by Truthcentric: I would have liked to see them break down those regional clusters so we would have an idea of exactly which ethnic groups were closest to Egyptians. Given the South African connections, they would totally grab headlines if they invoked the Zulu as close relatives of the Egyptians.
South African = Capoid.
The study (not that its to be trusted as its not peer-reviewed) clusters those egyptian mummies closest to Capoids who are non-negroid.
So the ''Northern Africa'' pool in table 1 in fact included several Egyptians samples, yet, the Pharaonic STR profiles still have a low freq in that pool. Keeps getting better.
EDIT: Either that, or the Egyptian and Sudanese samples were pooled under the ''Arabian'' header:
Thats a pretty phucked up thing to do, I wonder how they justify such a grouping. Maybe they've changed it, though. Several groupings are rearranged on Table 1. The East African group, for example, shows up only as ''Horn of Africa'' on table 1. Either way, both the North African and the Arabian cluster are dwarfed when it comes to the compared STR frequencies.
Posts: 8785 | From: Discovery Channel's Mythbusters | Registered: Dec 2009
| IP: Logged |
quote:Originally posted by Truthcentric: I would have liked to see them break down those regional clusters so we would have an idea of exactly which ethnic groups were closest to Egyptians. Given the South African connections, they would totally grab headlines if they invoked the Zulu as close relatives of the Egyptians.
South African = Capoid.
The study (not that its to be trusted as its not peer-reviewed) clusters those egyptian mummies closest to Capoids who are non-negroid.
To be fair, Khoisan peoples are listed among the African populations. However, considering how closely "Negroid" Africans of the Rift Valley and West Africa fall behind in affinity to the Egyptians, and also that some Southern Africans are Bantu rather than Khoisan, casshole fails nonetheless.
Posts: 7069 | From: Fallbrook, CA | Registered: Mar 2004
| IP: Logged |
posted
So If Im reading this correct, the only population from the Horn they have samples on are Somalis..
While South Africans they have..
Bantu(South Africa) Southeastern Bantu South Sotho Zulu Xhosa Venda Tswana
Just to name a few, what about Ethiopians, Amharas, Eritrieans etc??
And Im guessing the Egyptian samples are under the "Levantine" so are the Sudanese classified as Horners or Great Lake Africans, what about the Southern Egyptians?? Are they Levantines, Horners, Great Lakes, Meds??
quote:Originally posted by -Just Call Me Jari-: So then the "South Africans" in the sample are the Bantus??
quote:Originally posted by Sundjata: African samples used by DNAtribes are listed below:
quote:Originally posted by Manu: So the Ancient Egyptians were of Bantu origin?
This doesn't make any sense from the craniometric and linguistic data about them.
Resemblance to a sample populations only mens metric similarity and or genetic similarity not confirmation of identity.
Posts: 2595 | From: Vicksburg | Registered: Feb 2006
| IP: Logged |
quote:So the Ancient Egyptians were of Bantu origin? This doesn't make any sense from the craniometric and linguistic data about them.
The language we can debate but what craniometric data are you referring to. for this is also a Bantu language speaker The Tutsi are Bantu the Masai are Nilo Saharan both hugged the Great Lakes regions.
Posts: 6546 | From: japan | Registered: Feb 2009
| IP: Logged |
Ancestry and Pathology in King Tutankhamun's Family
Zahi Hawass, PhD ; Yehia Z. Gad, MD; Somaia Ismail, PhD; Rabab Khairat, MSc; Dina Fathalla, MSc; Naglaa Hasan, MSc; Amal Ahmed, BPharm; Hisham Elleithy, MA; Markus Ball, MSc; Fawzi Gaballah, PhD; Sally Wasef, MSc; Mohamed Fateen, MD; Hany Amer, PhD; Paul Gostner, MD; Ashraf Selim, MD; Albert Zink, PhD; Carsten M. Pusch, PhD [+] Author Affiliations
Author Affiliations: Supreme Council of Antiquities, Cairo, Egypt (Dr Hawass and Mr Elleithy); National Research Center, Cairo, Egypt (Drs Gad, Ismail, and Amer and Mss Hasan and Ahmed); Ancient DNA Laboratory, Egyptian Museum, Cairo, Egypt (Drs Gad and Ismail and Mss Fathalla, Khairat, Hasan, and Ahmed); Institute of Human Genetics, Division of Molecular Genetics, University of Tübingen, Tübingen, Germany (Ms Khairat, Mr Ball, and Dr Pusch); Learning Resource Center, Kasr Al Ainy Faculty of Medicine, Cairo University, Cairo, Egypt (Drs Gaballah and Fateen and Ms Wasef); Department of Radiodiagnostics, Central Hospital Bolzano, Bolzano, Italy (Dr Gostner); Department of Radiology, Kasr Al Ainy Faculty of Medicine, Cairo, Egypt (Dr Selim); and Institute for Mummies and the Iceman, EURAC, Bolzano, Italy (Dr Zink). Corresponding Author: Carsten M. Pusch, PhD, Institute of Human Genetics, Division of Molecular Genetics, University of Tübingen, Wilhelmstraße 27, D-72074, Tübingen, Germany (carsten.pusch@uni-tuebingen.de). More author information
Next Section ABSTRACT
Context The New Kingdom in ancient Egypt, comprising the 18th, 19th, and 20th dynasties, spanned the mid-16th to the early 11th centuries BC. The late 18th dynasty, which included the reigns of pharaohs Akhenaten and Tutankhamun, was an extraordinary time. The identification of a number of royal mummies from this era, the exact relationships between some members of the royal family, and possible illnesses and causes of death have been matters of debate.
Objectives To introduce a new approach to molecular and medical Egyptology, to determine familial relationships among 11 royal mummies of the New Kingdom, and to search for pathological features attributable to possible murder, consanguinity, inherited disorders, and infectious diseases.
Design From September 2007 to October 2009, royal mummies underwent detailed anthropological, radiological, and genetic studies as part of the King Tutankhamun Family Project. Mummies distinct from Tutankhamun's immediate lineage served as the genetic and morphological reference. To authenticate DNA results, analytical steps were repeated and independently replicated in a second ancient DNA laboratory staffed by a separate group of personnel. Eleven royal mummies dating from circa 1410-1324 BC and suspected of being kindred of Tutankhamun and 5 royal mummies dating to an earlier period, circa 1550-1479 BC, were examined.
Main Outcome Measures Microsatellite-based haplotypes in the mummies, generational segregation of alleles within possible pedigree variants, and correlation of identified diseases with individual age, archeological evidence, and the written historical record.
Results Genetic fingerprinting allowed the construction of a 5-generation pedigree of Tutankhamun's immediate lineage. The KV55 mummy and KV35YL were identified as the parents of Tutankhamun. No signs of gynecomastia and craniosynostoses (eg, Antley-Bixler syndrome) or Marfan syndrome were found, but an accumulation of malformations in Tutankhamun's family was evident. Several pathologies including Köhler disease II were diagnosed in Tutankhamun; none alone would have caused death. Genetic testing for STEVOR, AMA1, or MSP1 genes specific for Plasmodium falciparum revealed indications of malaria tropica in 4 mummies, including Tutankhamun’s. These results suggest avascular bone necrosis in conjunction with the malarial infection as the most likely cause of death in Tutankhamun. Walking impairment and malarial disease sustained by Tutankhamun is supported by the discovery of canes and an afterlife pharmacy in his tomb.
Conclusion Using a multidisciplinary scientific approach, we showed the feasibility of gathering data on Pharaonic kinship and diseases and speculated about individual causes of death.
KEYWORDS: cause of death, dna, egypt, feminization, genetic diseases, inborn, gynecomastia, history, ancient, malaria, marfan syndrome, molecular biology, mummies, walking. The 18th dynasty (circa 1550-1295 BC) of the New Kingdom (circa 1550-1070 BC) was one of the most powerful royal houses of ancient Egypt. The pharaoh Akhenaten, who ruled from circa 1351 to 1334 BC, is considered one of the most controversial of the Egyptian pharaohs, because his attempt to radically transform traditional religion affected all facets of society and caused great turmoil.
Akhenaten's eventual successor, Tutankhamun, is probably the most famous of all pharaohs, although his tenure was brief. He died in the ninth year of his reign, circa 1324 BC, at age 19 years. Little was known of Tutankhamun and his ancestry prior to Howard Carter's discovery of his intact tomb (KV62) in the Valley of the Kings in 1922, but his mummy and the priceless treasures buried with him, along with other important archeological discoveries of the 20th century, have provided significant information about the boy pharaoh's life and family.
Because Tutankhamun died so young and left no heirs, numerous speculations on familial disease have been made. The presence of disease is further supported by numerous reliefs, statuettes, and other sculptures of Akhenaten and his family dating from the Amarna period (circa 1353-1323 BC). These artifacts show the royalty of that era as having a somewhat androgynous appearance or a bizarre form of gynecomastia. Specific diseases that have been suggested to explain this appearance include Marfan syndrome, Wilson-Turner X-linked mental retardation syndrome, Fröhlich syndrome (adiposogenital dystrophy), Klinefelter syndrome, androgen insensitivity syndrome, aromatase excess syndrome in conjunction with sagittal craniosynostosis syndrome, or Antley-Bixler syndrome or a variant form of that syndrome.1,2,3,4 However, most of the disease diagnoses are hypotheses derived by observing and interpreting artifacts and not by evaluating the mummified remains of royal individuals apart from these artifacts.
To shed light on the putative diseases and causes of death in Tutankhamun's immediate lineage, we first used molecular genetic methods to determine kinship within that lineage. Whereas some individual relationships were known from historical records, the identity of most of the mummies under investigation was still uncertain. We also searched specifically for pathologies, inherited diseases, and causes of death. For example, many scholars have hypothesized that Tutankhamun's death was attributable to an accident, such as a fall from his chariot or a kick by a horse or other animal; septicemia or fat embolism secondary to a femur fracture; murder by a blow to the back of the head; or poisoning.5,6,7,8,9,10 We had access to mummies that had never before been studied with the methods we used.
Previous Section Next Section METHODS
Mummies
In addition to Tutankhamun, 10 mummies possibly or definitely closely related in some way to Tutankhamun were chosen for this 2-year project; of these, the identities were certain for only 3. In addition to these 11 mummies, 5 other royal individuals dating to the early New Kingdom were selected that were distinct from the putative members of the Tutankhamun lineage. These 5 mummies were used as a morphological (excluding Ahmose-Nefertari) and genetic (excluding Thutmose II) control group. All mummies are listed in Table 1, and full-body computed tomography reconstructions of the mummies are available here.
View this table: In this window In a new window Download as PowerPoint Slide Table 1. Characteristics of the Royal 18th-Dynasty Mummies Under Investigation (N = 16) Radiology
All of the mummies, except for that of Ahmose-Nefertari, were scanned using a multidetector computed tomography unit (Somatom Emotion 6; Siemens Medical Solutions, Malvern, Pennsylvania) installed on a truck. The tomography unit was used to examine the mummy of Tutankhamun and those of the 2 women from tomb KV35 in Luxor as well as the rest of the mummies at the Egyptian Museum in Cairo (eAppendix). Cephalic indices of mummy heads were determined according to the method of Weber et al.11
Molecular Genetics
We adopted the previously published criteria for ancient DNA authentication, which form a consensus outline for executing research studies using ancient DNA (eAppendix).12,13 Sampling of bone tissue and DNA extraction and purification were performed according to protocols previously published.14,15 Negative and blank extraction controls were processed along with each sample. In addition, water and other aqueous polymerase chain reaction (PCR) components were monitored using the sensitive internal-Alu-PCR protocol16 to assess contamination with modern human DNA.
Sixteen Y-chromosomal short tandem repeats (DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385, DYS393, DYS391, DYS439, DYS635, DYS392, Y-GATA-H4, DYS437, DYS438, DYS448) were amplified according to the manufacturer's protocol using the AmpF\STR Yfiler PCR amplification kit (Applied Biosystems, Foster City, California). The Identifiler kit and the AmpF\STR Minifiler kit (Applied Biosystems) were used for amplification of 8 polymorphic microsatellites of the nuclear genome (D13S317, D7S820, D2S1338, D21S11, D16S539, D18S51, CSF1PO, FGA).
To test for Plasmodium falciparum DNA, PCR primers were designed that specifically amplify small subtelomeric variable open reading frame (STEVOR), apical membrane antigen 1 (AMA1), and merozoite surface protein 1 (MSP1) gene fragments with sizes of 100 to 250 base pairs (bp). PCR products and cloned DNA fragments were sequenced by the Sanger method (eAppendix). Purified amplicons were run on a genetic analyzer (ABI Prism 3130, Applied Biosystems). Microsatellites were interpreted with Data Collection Software version 3.0 and GeneMapper ID version 3.2 (Applied Biosystems). Lasergene version 8.0 (DNAstar, Madison, Wisconsin) and BioEdit version 7.0.9 (Ibis Biosciences, Carlsbad, California) were used to establish multisequence alignments (eAppendix).
Previous Section Next Section RESULTS
Kinship Analyses
To elucidate the genealogy in Tutankhamun's family, microsatellite markers were used to achieve genetic fingerprints of all mummies. All 8 females tested were negative for the examined polymorphic Y-chromosomal loci, underlining the specificity of the approach. The repeated search for hemizygous Y alleles in the males yielded few results, with differing success in the various markers contained in the multiplex PCR kit used. Markers DYS393 and Y-GATA-H4 showed identical allele constellations (repeat motif located in the microsatellite allele reiterated 13 and 11 times, respectively) in Amenhotep III, KV55, and Tutankhamun but different allelotypes in the nonrelated CCG61065 sample from TT320 (9 and 9, respectively). Syngeneic Y-chromosomal DNA in the 3 former mummies indicates that they share the same paternal lineage.
These results were repeatedly obtained with DNA extracted from 2 to 4 different biopsies per mummy; moreover, they differed from the Y profiles of the male laboratory staff and were independently reproduced twice in a second laboratory physically isolated from the first, data-generating laboratory.
An up to 30-fold testing of polymorphic autosomal microsatellite loci via the combined use of the Identifiler and AmpF\STR Minifiler kits (Applied Biosystems) yielded complete data sets for all 8 markers in 7 mummies (Thuya, Yuya, Amenhotep III, Tutankhamun, KV55, and both female mummies from KV35) but only partial data for both KV62 fetuses and the KV21A and KV21B mummies (Figure 1). Repeated attempts to complete the profiles in the 4 latter mummies were not successful; however, we were able to replicate some of the results for the previous mummies more than 4 times in the second, independent laboratory (Figure 1). Moreover, because these profiles differed from those of the laboratory staff and were not identical to the ones established for the control group, the data were considered authentic.
Figure 1. Microsatellite Data of Mummies Thought to Belong to the Tutankhamun Kindred The length of each microsatellite allele was determined in base pairs and converted by software into the number of actual reiterations of repeat motifs at the corresponding locus. All established genotypes differ from those of the laboratory staff and the ancient control group. Note that allele origins in KV21A and KV21B are suggestive and do not serve as proof of relationship with the Amenhotep III and Thuya lineages. See online interactive kinship analysis and pedigree. aIdentified as Tiye. See eAppendix for additional commentary. bIdentified as Akhenaten. See eAppendix for additional commentary. cData replication was successfully performed in the second Cairo laboratory.
Based on the partial Y-chromosomal information on the amount of autosomal half-allele sharing and family trio likelihood calculation, the most plausible 5-generation pedigree was constructed. We identified Yuya and Thuya as great-grandparents of Tutankhamun, Amenhotep III and KV35EL as his grandparents, and the KV55 male and KV35YL as his sibling parents (Figure 1, Figure 2, and online interactive kinship analysis and pedigree; for details on kinship statistics, see eAppendix).
Posts: 42919 | From: , | Registered: Jan 2010
| IP: Logged |
Figure 2. Pedigree Showing the Genetic Relationships of the Tested 18th-Dynasty Mummies Double line, indicating consanguinity, here represents a first-degree brother-sister relationship. Fetus 1 and fetus 2 can be daughters of Tutankhamun; however, the mother is not yet genetically identified. The data obtained from KV21A suggest her as the mother of the fetuses. However, the few data are not statistically significant to define her as Ankhensenamun. See online interactive kinship analysis and pedigree. aSee eAppendix for additional commentary on identity. Gynecomastia, Feminity, and Syndromes
The most prominent feature exhibited by the art of the pharaoh Akhenaten, seen also to a lesser degree in the statues and reliefs of Tutankhamun, is a markedly feminized appearance (eFigure 1A-C), reasonably suggesting some form of gynecomastia or Marfan syndrome as an underlying disease.1,2,3,4 However, putative breasts in Tutankhamun and his father Akhenaten (KV55) cannot be determined, because KV55 is a mummified skeleton and Tutankhamun lacks the frontal part of the chest wall. The penis of Tutankhamun, which is no longer attached to the body, is well developed. Furthermore, the pelvic bones of Tutankhamun are almost entirely missing, and the pelvis of KV55, which is present but fragmented, does not show feminine traits after reconstruction using computed tomography (eAppendix, eFigure 1D-G, and online interactive feature).
One of the obvious features of Marfan syndrome is dolichocephaly.17,18,19 With the exception of Yuya (cephalic index, 70.3), none of the mummies of the Tutankhamun lineage has a cephalic index of 75 or less (ie, indicating dolichocephaly). Instead, Akhenaten has an index of 81.0 and Tutankhamun an index of 83.9, indicating brachycephaly. From the control group, Thutmose II and the TT320-CCG61065 mummy show dolichocephaly, with cephalic indices of 73.4 and 74.3, respectively. Because there is no sign of premature closure of sutures, none of the skull shapes can be considered pathological. The complex diagnosis of Marfan syndrome is based on certain combinations of major and minor clinical features.18 Following this classification, a Marfan diagnosis cannot be supported in these mummies (Table 2). Antley-Bixler syndrome is also excluded in Tutankhamun and Akhenaten because their brachycephaly is not attributable to craniosynostoses, and further signs of Antley-Bixler or other syndromes are missing or unspecific.
Pathology in the Royal Mummies
Tutankhamun's mummy was examined several times radiologically.20,21,22,23 Our inspection of the skull and trunk did not reveal novel information, but detailed examination of the king's feet yielded new data. Compared with the normal anatomy of the foot (Figure 3), the right foot had a low arch (Rocher angle, 132°; normal value, 126°). The medial longitudinal arch of the left foot was slightly higher than normal (Rocher angle, 120°) (Figure 4A), with the forefoot in supine and inwardly rotated position akin to an equinovarus foot deformity (Figure 4B). There were no pathological findings on the bone structure of the right metatarsal heads (Figure 5A). In contrast, the left second metatarsal head was strongly deformed and displayed a distinctly altered structure, with areas of increased and decreased bone density indicating bone necrosis (Figure 5B). The study further showed a widening of the second metatarsophalangeal joint space, with a normal articulating surface of the proximal phalanx. The third metatarsal head was only slighty deformed; the bony structure, however, showed signs of bone necrosis. The remaining left metatarsal heads appeared to be of normal structure (Figure 5B). The plantar surface of the left second metatarsal head shows a crater-shaped bone and a soft tissue defect in the area of bone necrosis (Figure 5C). The second and third toes on the left foot are in abduction. The second toe is shortened because it lacks the middle phalanx (oligodactyly [hypophalangism]). The proximal phalanx directly articulates with the distal phalanx (Figure 5D). Figure 5. Analysis of Pathology in the Feet of Tutankhamun A, The heads of all metatarsal bones as well as metatarsal phalangeal articulations of the right foot are clearly discernable and completely preserved. B, In the left foot, the second metatarsal bone head (yellow arrowheads) shows signs of bone necrosis accompanied by anterior displacement of the second toe and widening of the second metatarsophalangeal joint space (white arrowheads). The third metatarsal bone head is similarly deformed (blue arrowheads), displaying features of bone necrosis as well. Metatarsal bone heads 1, 4, and 5 are normal in size and structure. C, The right foot shows no pathological findings. The second metatarsal bone head shows evidence of necrosis with loss of bone substance and soft tissue (yellow arrowhead). The second toe of the left foot lacks the middle phalanx (oligodactyly [hypophalangism], black arrowhead). D, The right foot shows no pathological findings. In the left foot, the second metatarsal head is necrotic (yellow arrowhead) and the second toe is missing the middle phalanx (oligodactyly [hypophalangism], black arrowhead), is anteriorly displaced, and the distal phalanx is subluxated.Except for Ahmose-Nefertari, all remaining mummies were subjected to radiological analyses. Along with various bony malformations (eg, cleft palate, kyphoscoliosis, clubfeet, flat feet) in the remaining mummies, indications of bone degeneration, neoplastic changes, and trauma were also found. These various findings are listed in Table 3 and are described in the eAppendix.
Infectious Diseases
Various infectious diseases are suspected or known to have been prevalent in antiquity,24,25,26,27 and some are described in remarkable detail in Egyptian papyri (eg, Papyrus Ebers, circa 1520 BC). Positive results were not found for pandemic plague (Black Death, bubonic plague), tuberculosis, leprosy, or leishmaniasis, but we identified DNA of P falciparum (the malaria parasite) in several of the royal mummies. Amplification of the P falciparum STEVOR gene family28 repeatedly yielded 149-bp and 189-bp amplicons for Tutankhamun and the TT320-CCG61065 mummy and also yielded a faint PCR band using DNA of the Yuya mummy. This result was replicated in further PCRs using DNA from other biopsies (for details on STEVOR data see eAppendix and eFigure 2).
To consolidate or disprove this result, we targeted a further Plasmodium gene using new DNA extracts from the royal mummies in our study. We identified 4 mummies as positive for AMA1, a merozoite protein responsible for the successful binding of the parasite to the erythrocyte membrane, by amplifying DNA fragments locating to the conserved region of the AMA1 gene (Figure 6). The AMA1 PCR fragments were obtained for all mummies testing positive in the earlier STEVOR assays (ie, Tutankhamun, Yuya, TT320-CCG61065). In addition, we also obtained a positive typing for Thuya. Repetition of these experiments in the second laboratory using DNA extractions from new biopsies confirmed the previous data (Figure 6; for details on AMA1 data, see eAppendix).
Figure 6. Identification of Plasmodial DNA in 18th-Dynasty Mummies A, Polymerase chain reaction amplification of a 196–base pair (bp) apical membrane antigen 1 (AMA1) fragment of Plasmodium falciparum in Egyptian mummies. DNA marker indicates molecular size marker phiX/174 HaeIII. Successful amplification is indicated by “+.” B, Independent replication of the AMA1 data shown in panel A. aDifferent DNA extractions. bIdentified as Akhenaten. See eAppendix for additional commentary. cIdentified as Tiye. See eAppendix for additional commentary. In addition to the STEVOR and AMA1 genes, we attempted amplification of alleles of the MSP1 and MSP2 genes specific to P falciparum. Because of the fragmented nature of the ancient DNA, we did not obtain positive amplifications when targeting the larger (>400 bp) PCR alleles of the MSP2 gene but were successful in amplifying different alleles of the MSP1 gene (for details on MSP1 data, see eAppendix).29,30 Using extracts from Tutankhamun and Yuya, we repeatedly amplified the RO33 and MAD20 alleles, which is indicative of at least a double infection with the P falciparum parasite. The DNA of Thuya yielded amplicons for the RO33 allele. The DNA of TT320-CCG61065 was refractory to MSP1 amplifications. Cloning the obtained allelic fragments into TA plasmid vectors and subsequent Sanger sequencing of 21 clones designated the sequences as specific for MSP1 (eAppendix).
Previous Section Next Section COMMENT
Kinship Determination
More than 55 bone biopsies were used to elucidate the individual relationships of 18th-dynasty individuals, with the result that several of the anonymous mummies or those with suspected identities are now able to be addressed by name. These include KV35EL, who is Tiye, mother of Akhenaten and grandmother of Tutankhamun, and the KV55 mummy, who is most probably Akhenaten, father of Tutankhamun (Figure 2, eAppendix, and online interactive kinship analysis and pedigree). The latter kinship is supported in that several unique anthropological features are shared by the 2 mummies and that the blood group of both individuals is identical.31,32
Disease or Amarna Artistic Style?
Macroscopic and radiological inspection of the mummies did not show specific signs of gynecomastia, craniosynostoses, Antley-Bixler syndrome or deficiency in cytochrome P450 oxidoreductase, Marfan syndrome, or related disorders (eAppendix, Table 2). Therefore, the particular artistic presentation of persons in the Amarna period is confirmed as a royally decreed style most probably related to the religious reforms of Akhenaten. It is unlikely that either Tutankhamun or Akhenaten actually displayed a significantly bizarre or feminine physique.
It is important to note that ancient Egyptian kings typically had themselves and their families represented in an idealized fashion. A recent radiographic examination of the Nefertiti bust in the Berlin Museum illustrates this clearly by showing that the original face of Nefertiti, present as a thin layer beneath the outer surface, is less beautiful than that represented by the artifact.33 Differences include the angles of the eyelids, creases around the corners of the mouth on the limestone surface, and a slight bump on the ridge of the nose.34 Thus, especially in the absence of morphological justification, Akhenaten's choice of a “grotesque” style becomes even more significant.
Walking Impairment and Canes
Tutankhamun had a juvenile aseptic bone necrosis of the left second and third metatarsals (Köhler disease II, Freiberg-Köhler syndrome). The widening of the metatarsal-phalangeal joint space, as well as secondary changes of the second and third metatarsal heads, indicate that the disease was still flourishing at the time of death.35 Bone and soft tissue loss at the second metatarsal phalangeal articulation could further indicate that an acute inflammatory condition was present on the basis of an ulcerative osteoarthritis and osteomyelitis. The congenital equinovarus deformity (pes equinovarus) together with the malformed second toe of the left foot (oligodactyly [hypophalangism]) transferred additional joint load to the right foot, causing flattening of the foot arch (pes planus).
There is evidence that Tutankhamun may have had this impairment for quite some time. The walking disability can be substantially aided by the use of a cane. Howard Carter discovered 130 whole and partial examples of sticks and staves (eFigure 3A) in the king's tomb, supporting the hypothesis of a walking impairment.36 Traces of wear can be seen on a number of the sticks, demonstrating that they were used in the king's lifetime (eFigure 3B). Additional evidence for some sort of physical disability is found in a number of 2-dimensional images from Tutankhamun's reign that show him seated while engaged in activities for which he normally should have been standing, such as hunting (eAppendix and eFigure 3C).37,38
Malaria Tropica
Macroscopic studies revealed areas of patchy skin changes on the pharaoh's left cheek and neck of uncertain anamnesis, possibly indicating an Aleppo boil, a plague spot, an inflamed mosquito bite, or a mummification artifact.39 However, the genetic identification and typing of plasmodial DNA in Tutankhamun, Thuya, Yuya, and TT320-CCG61065 showed that they must have had malaria tropica, the most severe form of malaria (eAppendix).
Literary evidence for malaria infection dates back to the early Greek period, when Hippocrates described the periodic fever typical of this disease.40 Although it is believed that malaria widely affected early populations before Hippocrates,27,41 until now only 1 report using immunological tools42 and few molecular genetic studies have clearly identified P falciparum in ancient specimens.43,44,45,46 We not only identified this parasite in our sample but also observed individual differences in some of the gene sequences as well as different MSP1 allele constellations in the 4 positive mummies. The diversity of plasmodial DNA (ie, variability in the genes' base order, length polymorphisms, or both) is a well-known phenomenon; however, some of the base deviations were not found in current DNA databases. Further research is required to typify these alterations in more detail and to assign these potentially unknown patterns to ancient Egyptian Plasmodium strains that date back to 3300 to 3400 years before present.
To our knowledge, this is the oldest genetic proof for malaria in precisely dated mummies. When the infection occurred, its severity, and whether it could have caused the death in the 4 mummies testing positive is not known. Preliminary data show that Tutankhamun and Yuya had multiple infections, as could be seen by the presence of the 2 P falciparum alleles MAD20 and RO33 of the MSP1 in the extracts. In contrast, and taking only the MSP1 test system into account, Thuya was infected by only 1 strain, which displayed the RO33 allele.
To date, no association has been found between P falciparum MSP1 genotypes and the clinical status of persons affected.47 We note that mixed P falciparum infections were detected in up to 78% of a contemporary sampling, and even isolates from symptomatic children contained more than 1 Plasmodium clone.47,48 Thus, multiple infections appear to be the norm rather than the exception. Moreover, the MSP1 allele frequencies tend to vary largely in different, sometimes even neighboring, areas but also over time.29 Thus, the prevalence rate of infection is not known—nor is it known if malaria was an epidemic or an endemic disease and how widely it was distributed in ancient Egypt.
Unfortunately, there is also no distinct evidence in ancient Egyptian texts of treatments for malaria, and there are no references to the fevers and chills associated with the disease.49 However, the Nile Delta and the fringes of the Nile Valley were marshy areas and thus excellent breeding grounds for the mosquito genus Anopheles. Interestingly, mosquitoes are mentioned in at least 1 ancient text,50 and it has also been suggested that the wooden frame of Queen Hetepheres (fourth dynasty) served as the support for a mosquito net.50 Herodotus also mentions that Lower Egypt was infested with mosquitoes or other insects and that people slept under nets to avoid them.51 Since there is nothing in the historical or archeological record that speaks against the widespread presence of this carrier in Pharaonic times, there is no evidence that can be used to argue against the diagnosis of malaria.
Cause of Death
Caution must be taken when interpreting cause of death in these mummies. It can be speculated that Yuya and Thuya had malaria, but it is not known if this was lethal (Table 3). Surprisingly, both individuals had reached an advanced (for the time) age of approximately 50 years or older (Table 1). This means either that the infection took place quite late in their lifetime, that they enjoyed strong genetic fitness, or that they aquired a partial immunity against the pathogen during their lives. Not every person infected with P falciparum becomes gravely ill, and this is especially true in populations that have been exposed to malaria pathogens over long periods.52 If Yuya and Thuya spent much of their time living in malaria-endemic areas close to the marshes of the Nile River, partial immunization may have contributed to their survival.
On the other hand, Tutankhamun had multiple disorders, and some of them might have reached the cumulative character of an inflammatory, immune-suppressive—and thus weakening—syndrome (Table 3). He might be envisioned as a young but frail king who needed canes to walk because of the bone-necrotic and sometimes painful Köhler disease II, plus oligodactyly (hypophalangism) in the right foot and clubfoot on the left. A sudden leg fracture23 possibly introduced by a fall might have resulted in a life-threatening condition when a malaria infection occurred. Seeds, fruits, and leaves found in the tomb, and possibly used as medical treatment, support this diagnosis (eAppendix, eFigures 3D and 3E).24,25,53,54,55,56,57
In conclusion, this study suggests a new approach to research into the molecular genealogy and pathogen paleogenomics of the Pharaonic era. With additional data, a scientific discipline called molecular Egyptology might be established and consolidated, thereby merging natural sciences, life sciences, cultural sciences, humanities, medicine, and other fields.
Posts: 42919 | From: , | Registered: Jan 2010
| IP: Logged |
UBBFriend: Email this page to someone!
![[Smile]](smile.gif)
![[Roll Eyes]](rolleyes.gif)
Printer-friendly view of this topic