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. Mitochondrial lineage M1 traces an early human backflow to Africa Ana M Gonzalez , Jose M Larruga , Khaled K Abu-Amero , Yufei Shi , Jose Pestano and Vicente M Cabrera
The complete article is available as a provisional PDF. The fully formatted PDF and HTML versions are in production.
Background
The out of Africa hypothesis has gained generalized consensus. However, many specific questions remain unsettled. To know whether the two M and N macrohaplogroups that colonized Eurasia were already present in Africa before the exit is puzzling. It has been proposed that the east African clade M1 supports a single origin of haplogroup M in Africa. To test the validity of that hypothesis, the phylogeographic analysis of 13 complete mitochondrial DNA (mtDNA) sequences and 261 partial sequences belonging to haplogroup M1 was carried out.
Results
The coalescence age of the African haplogroup M1 is younger than those for other M Asiatic clades. In contradiction to the hypothesis of an eastern Africa origin for modern human expansions out of Africa, the most ancestral M1 lineages have been found in Northwest Africa and in the Near East, instead of in East Africa. The M1 geographic distribution and the relative ages of its different subclades clearly correlate with those of haplogroup U6, for which an Eurasian ancestor has been demonstrated.
Conclusions
This study provides evidence that M1, or its ancestor, had an Asiatic origin. The earliest M1 expansion into Africa occurred in northwestern instead of eastern areas; this early spread reached the Iberian Peninsula even affecting the Basques. The majority of the M1a lineages found outside and inside Africa had a more recent eastern Africa origin. Both western and eastern M1 lineages participated in the Neolithic colonization of the Sahara. The striking parallelism between subclade ages and geographic distribution of M1 and its North African U6 counterpart strongly reinforces this scenario. Finally, a relevant fraction of M1a lineages present today in the European Continent and nearby islands possibly had a Jewish instead of the commonly proposed Arab/Berber maternal ascendance.
quote:OOHH NOOOOO the devil Clyde Winters finally has a loop hole for his antics. Oh what on Earth shall we do!!!!! So now M1 is Indian folks civilizing Africa is it Clyde?
Vida, The report is not saying that!
M1 greater sample pool is in India with a smaller frequency in N. Africa and even a few samples in West Africa. And he never said Indians civilizing Africa!
Come on mon!
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Doesn't M1 correlate with Afro-Asiatic-speakers in North and East Africa, where it is more prevalent? Models like these depend highly on unsubstantiated diffusion and linguistic hypotheses that isn't very strong given a multi-disciplinary approach. I'm unable to comment on the genetic evidence presented, I'm not sure how researchers go about timing the emergence of haplogroups, but to me I'll have to take this with a grain of salt since they seem to be challenging the well-established views of the Out-Of-Africa model..
The coalescence age of the African haplogroup M1 is younger than those for other M Asiatic clades. In contradiction to the hypothesis of an eastern Africa origin for modern human expansions out of Africa
^Am I interpreting this correctly and is this something that you vouch for Mr. Winters?
Posts: 4021 | From: Bay Area, CA | Registered: Mar 2007
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quote:OOHH NOOOOO the devil Clyde Winters finally has a loop hole for his antics. Oh what on Earth shall we do!!!!! So now M1 is Indian folks civilizing Africa is it Clyde?
Vida, The report is not saying that!
M1 greater sample pool is in India with a smaller frequency in N. Africa and even a few samples in West Africa. And he never said Indians civilizing Africa!
Come on mon!
NO NO NO that is HIS(Clyde's) agenda though man. I know the report didn't say it.
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L3 is still the father of infant M1 so nothing really changed except that dispersal (i read proliferation) in India. M1 exists in Balanta populations, U5 in Fulo/a and U6 in 'Brame' language so the origin is still there on the continent. Note: M1 is absent amongst typical West Africa groups but are predominant amongst the Niger Congo Atlantic Bak language group. Funny thing is that they call M1 Asian as opposed to the location where it probably began!
source: MtDNA profile of West African Guineans. Towards Understanding of the Senegambian Region
Posts: 1290 | From: usa | Registered: May 2005
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quote:Originally posted by Sundiata: Doesn't M1 correlate with Afro-Asiatic-speakers in North and East Africa, where it is more prevalent? Models like these depend highly on unsubstantiated diffusion and linguistic hypotheses that isn't very strong given a multi-disciplinary approach. I'm unable to comment on the genetic evidence presented, I'm not sure how researchers go about timing the emergence of haplogroups, but to me I'll have to take this with a grain of salt since they seem to be challenging the well-established views of the Out-Of-Africa model..
The coalescence age of the African haplogroup M1 is younger than those for other M Asiatic clades. In contradiction to the hypothesis of an eastern Africa origin for modern human expansions out of Africa
^Am I interpreting this correctly and is this something that you vouch for Mr. Winters?
I will post my opinion of the article later. I just posted the article because it conflicts with what we believe to be correct. My own opinion is that M1 originated in Africa.
posted
The article is very interesting. It claims that M1 probably originated in Asia and through back migration it came back to Northwest Africa. From here it is suppose to have spread to East Africa.
Gonzalez et al allegedly determined this based on the statistical analysis of the lineages and the age of the M haplogroup in Asia. The authors claimed that 261 carriers of M1 haplogroup particiapted in the study. This number is contradicted by Table 2. In Table 2 we find that the sample for the study by geographical region was Europe 101; Africa 444 and Asia 43=588. In relation to Africa only 38 participants in the study came from NorthWest Africa. The NWA sample was only .086% of the total African sample.
A cursory examination of Table 2, does not support this conclusion. If we look at the table we find that the average frequency of M1 in Europe is 0.6%, NWA 2.9%, Ethiopia 16.2%, Sub Saharan Africa 6.78% and Asia 0.5%. These statistics make it clear that frequency of M1 in Ethiopia at 16.2% and Sub-Saharan Africa 6.78% is higher than the frequencies for Asia (0.5) and Northwest Africa (2.9), the greatest diversity thoery would argue that M1 probably originated in Sub-Saharan Africa, specifically Ethiopia and not Asia, and that it probably entered NWA from below the Sahara.
If there was a conflict between the stated M1 population of the study 261 and the norm of the study documented in Table 2, 588 we have to ask the question where did the number 261 come from. The answer was, this number is related to the number of M1 carriers mentioned in the various studies referenced by the authors.
The conflict between the actual participants in the study (588)and the claimed number of subjects in the study (261) based on a meta-analysis of the M1 haplogroup literature makes the conclusions of Gonzalez et al suspect. The actual data mentioned in Table 2, shows that the highest frequency for M1 was in Africa, and not Asia. This conflicts with the conclusions of Ginzalez et al.
The conclusions of Gonzalez et al, appear to be the result of expectancy bias. The authors assumed haplogroup M1 originated in Asia, so they found the results they were looking for.
quote:Originally posted by Clyde Winters: The article is very interesting. It claims that M1 probably originated in Asia and through back migration it came back to Northwest Africa. From here it is suppose to have spread to East Africa.
Gonzalez et al allegedly determined this based on the statistical analysis of the lineages and the age of the M haplogroup in Asia. The authors claimed that 261 carriers of M1 haplogroup particiapted in the study. This number is contradicted by Table 2. In Table 2 we find that the sample for the study by geographical region was Europe 101; Africa 444 and Asia 43=588. In relation to Africa only 38 participants in the study came from NorthWest Africa. The NWA sample was only .086% of the total African sample.
A cursory examination of Table 2, does not support this conclusion. If we look at the table we find that the average frequency of M1 in Europe is 0.6%, NWA 2.9%, Ethiopia 16.2%, Sub Saharan Africa 6.78% and Asia 0.5%. These statistics make it clear that frequency of M1 in Ethiopia at 16.2% and Sub-Saharan Africa 6.78% is higher than the frequencies for Asia (0.5) and Northwest Africa (2.9), the greatest diversity thoery would argue that M1 probably originated in Sub-Saharan Africa, specifically Ethiopia and not Asia, and that it probably entered NWA from below the Sahara.
If there was a conflict between the stated M1 population of the study 261 and the norm of the study documented in Table 2, 588 we have to ask the question where did the number 261 come from. The answer was, this number is related to the number of M1 carriers mentioned in the various studies referenced by the authors.
The conflict between the actual participants in the study (588)and the claimed number of subjects in the study (261) based on a meta-analysis of the M1 haplogroup literature makes the conclusions of Gonzalez et al suspect. The actual data mentioned in Table 2, shows that the highest frequency for M1 was in Africa, and not Asia. This conflicts with the conclusions of Ginzalez et al.
The conclusions of Gonzalez et al, appear to be the result of expectancy bias. The authors assumed haplogroup M1 originated in Asia, so they found the results they were looking for.
posted
I concur, great job in pointing out the flaws within the study Dr. Winters! Even given the little that I know(and am still learning) about genetics and population movements, the article indeed seemed quite suspect and open to further interpretation.
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The article is very interesting. It claims that M1 probably originated in Asia and through back migration it came back to Northwest Africa.
Nothing new here, as this idea had been entertained by other researchers prior to this group. We've covered this before:
For instance,
Based on the high frequency and diversity of haplogroup M in India and elsewhere in Asia, some authors have suggested (versus [3]) that M may have arisen in Southwest Asia [16,17,31]. Finding M1 or a lineage ancestral to M1 in India, could help to explain the presence of M1 in Africa as a result of a back migration from India. Yet, to date this has not been achieved [15], this study). Therefore, one cannot rule out the still most parsimonious scenario that haplogroup M arose in East Africa [3]. Furthermore, the lack of L3 lineages other than M and N (indeed, L3M and L3N) in India is more consistent with the African launch of haplogroup M. On the other hand, one also observes that: i) M1 is the only variant of haplogroup M found in Africa; ii) M1 has a fairly restricted phylogeography in Africa, barely penetrating into sub-Saharan populations, being found predominantly in association with the Afro-Asiatic linguistic phylum – a finding that appears to be inconsistent with the distribution of sub-clades of haplogroups L3 and L2 that have similar time depths. - Mait Metspalu et al.
The authors of the study at hand, themselves admit that they haven't come across M1 ancestor in either south Asia or southwest Asia. They also take note of its highest diversity in Ethiopia and east Africa. Yet through the shaky premise of their M1c expansion time frame estimations, they build a conclusion around it, by tying it to a dispersal(s) "parallel" to that of U6.
quote:Clyde Winters:
The authors claimed that 261 carriers of M1 haplogroup particiapted in the study. This number is contradicted by Table 2. In Table 2 we find that the sample for the study by geographical region was Europe 101; Africa 444 and Asia 43=588.
^Not sure I follow this bit, in terms of how you arrived at those numbers, based on my reading of the same table.
quote:Clyde Winters:
In relation to Africa only 38 participants in the study came from NorthWest Africa. The NWA sample was only .086% of the total African sample.
Which would be based on the 444 African number you arrived at.
See my post, on a question pertaining to those numbers. The table in question itself puts the African numbers for M1 at 154 on one hand, and 64 for M1a, naturally with M1a being a subset of the M1 sample. BTW, this would be in addition to lineages detected in Jewish African groups, numbering to about 14, with 12 of these comprising the M1a derivative.
quote:Clyde Winters:
A cursory examination of Table 2, does not support this conclusion. If we look at the table we find that the average frequency of M1 in Europe is 0.6%, NWA 2.9%, Ethiopia 16.2%, Sub Saharan Africa 6.78% and Asia 0.5%. These statistics make it clear that frequency of M1 in Ethiopia at 16.2% and Sub-Saharan Africa 6.78% is higher than the frequencies for Asia (0.5) and Northwest Africa (2.9), the greatest diversity thoery would argue that M1 probably originated in Sub-Saharan Africa, specifically Ethiopia and not Asia, and that it probably entered NWA from below the Sahara.
Again, if you can share with us what you're specifically basing these numbers on, that would be appreciated.
quote:Clyde Winters:
If there was a conflict between the stated M1 population of the study 261 and the norm of the study documented in Table 2, 588 we have to ask the question where did the number 261 come from.
From my assessment of the table, it comes from the following numbers:
A total of 50 Europeans detected for M1.
A total of 154 for Africans.
A total of 28 Asians, barring 8 unknown Arabian haplotypes.
And a total of 29 Jews, who were lumped together from the various continents.
The sum of the above totals, amount to 261 "known" M1 lineages.
quote:Clyde Winters:
The answer was, this number is related to the number of M1 carriers mentioned in the various studies referenced by the authors.
The conflict between the actual participants in the study (588)and the claimed number of subjects in the study (261) based on a meta-analysis of the M1 haplogroup literature makes the conclusions of Gonzalez et al suspect. The actual data mentioned in Table 2, shows that the highest frequency for M1 was in Africa, and not Asia. This conflicts with the conclusions of Ginzalez et al.
They do acknowledge the highest "frequencies and diversities" of M1 particularly in Ethiopia, and generally in East Africa. Rather, they're basing their claim on their expansion estimations of M1c derivatives, presumably predominant in northwest Africa rather than east Africa, and its relative sporadic distribution in 'Europe' and 'Southwest' Asia. They attempt to buttress this, by invoking a parallel expansion of M1 and U6 "ancestor" lineages into north Africa via the Nile Valley, then an expansion from northwest Africa this time around, of U6 and M1 derivatives northward into Europe and then eastward into "southwest" Asia via the Nile Valley corridor in the Sinai peninsula, presumably with a few derivatives making their way into sub-Saharan east Africa, where they then underwent some expansion, to give rise to yet another, but later, dispersal from there into "southwest Asia" and hence, accounting for the 'majority' of M1 lineages in "southwest Asia" being east African derivatives than the north African [M1c] counterparts.
The alternative idea entertained by the authors, is one where M1 could actually be an autochthonous northwest African lineage, which spread northward into Europe and eastward to "Southwest Asia" and east Africa. Again, to be followed by a yet later dispersal from east Africa, likely sub-Saharan east Africa, particularly the Ethiopian populations.
^Just another indicator of the very shaky premises, that the authors are working from.
quote:Clyde Winters:
The conclusions of Gonzalez et al, appear to be the result of expectancy bias. The authors assumed haplogroup M1 originated in Asia, so they found the results they were looking for.
I agree with this.
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The authors of the study at hand, themselves admit that they haven't come across M1 ancestor in either south Asia or southwest Asia. They also take note of its highest diversity in Ethiopia and east Africa.
The status quo hasn't changed, not withstanding the hype about the supposed older expansion timeframes from M1c derivatives, predominant in Northwest Africa, according to their study. The authors rely heavily on the hypervariable region of the mtDNA, which even they themselves don't seem to put much faith on, as demonstrated by their noting of the need to proceed cautiously, given that random parallel mutations are known to occur across distinct macro-haplogroups and sub-clades. They also note how hypervariable nature of the control region, can lead to misleading calculations from erratic mutations, as demonstrated by the M1a2 they put forth, leading them to omit them in their lineage coalescence analysis.
Another thing that hasn't been relayed through this study is this:
Recap: The coding regions transitions are likely to change relatively slower than those of hypervariable segments, and hence, likely to remain intact within a clade. To assist in determining which clade to place a monophyletic unit, key coding region transitions have to be identified. In the case of M1, we were told:
We found 489C (Table 3) in all Indian and eastern-African haplogroup M mtDNAs analysed, but not in the non-M haplogroup controls, including 20 Africans representing all African main lineages (6 L1, 4 L2, 10 L3) and 11 Asians.
These findings, and the lack of positive evidence (given the RFLP status) that the 10400 C->T transition defining M has happened more than once, suggest that it has a single common origin, but do not resolve its geographic origin. Analysis of position 10873 (the MnlI RFLP) revealed that all the M molecules (eastern African, Asian and those sporadically found in our population surveys) were 10873C (Table 3). As for the non-M mtDNAs, the ancient L1 and the L2 African-specific lineages5, as well as most L3 African mtDNAs, also carry 10873C.
Conversely, all non-M mtDNAs of non-African origin analysed so far carry 10873T. These data indicate that the **transition 10400 C-->T, which defines haplogroup M**, arose on an African background characterized by the ancestral state 10873C, which is also present in four primate (common and pygmy chimps, gorilla and orangutan) mtDNA sequences. - Semino et al.
^Which is significant, as other M lineages are devoid of M1 coding region motifs, not to mention the M1 HVS-I package. The above does demonstrate, how M lineages likely arose on an African 'background' by single-event substitutions in the designated African ancestral counterparts. The ancestral transition of 10873C is substituted by 10873T in non-African non-M haplogroups, while the 10400C transition was substituted in M lineages by 10400T.
Furthermore,...
The 489C transition, as noted above and can be seen from the diagram, is peculiar to the M macrohaplogroup, again suggestive of unique event mutations characterizing the family:
The phylogenetic location of the mutations at nt 489 and 10,873 (arrow) was predicted by our analysis. The seemingly shared mutation at nt 16,129 (by G, Z and M1) is very likely an accidental parallelism. The ancestral states 10400C, 10810C and 10873C are fixed in L1 (as analysed so far) and are present in the ape sequences.
The 16129 sharing across the M1 haplogroups, seems to be one of those instances of random parallel mutation, recalling Chang Sun et al.'s observations of random parallel mutations of certain transitions across the M macrohaplogroup.
We also know that "southwest Asian" and "European" M1 lineages are derivatives of African counterparts, and the same is true for non-M1 M lineages from south Asia:
Compared to India, haplogroup M frequency in Iran is marginally low (5.3%) and there are no distinguished Iranian-specific sub-clades of haplogroup M. All Iranian haplogroup M lineages can be seen as derived from other regional variants of the haplogroup: eleven show affiliation to haplogroup M lineages found in India, twelve in East and Central Asia (D, G, and M8) and one in northeast Africa (M1)…
Indian-specific (R5 and Indian-specific M and U2 variants) and East Asian-specific (A, B and East Asian-specific M subgroups) mtDNAs, both, make up less than 4% of the Iranian mtDNA pool. We used Turkey (88.8 ± 4.0%) as the third parental population for evaluating the relative proportions of admixture from India (2.2 ± 1.7%) and China (9.1 ± 4.1%) into Iran. Therefore we can conclude that historic gene flow from India to Iran has been very limited.
With that said, Semino et al.'s older study still remains strong, the way I see it:
haplogroup M originated in eastern Africa approximately 60,000 years ago and was carried toward Asia. This agrees with the proposed date of an out-of-Africa expansion approximately 65,000 years ago10. After its arrival in Asia, the haplogroup M founder group went through a demographic and geographic expansion. The remaining M haplogroup in eastern Africa did not spread, but remained localized up to approximately 10,000−20,000 years ago, after which it started to expand. - Semino et al.
In other threads, we've also talked about some 'basal' M-like lineages in Africa; for instance, at least one of such was identified in the Senegalese sample.
Yet through the shaky premise of their M1c expansion time frame estimations, they build a conclusion around it, by tying it to a dispersal(s) "parallel" to that of U6.
The authors gather that their observations correlate with that of other researchers, namely Olivieri et al. To this extend, they put forth that Olivieri et al.’s M1b corresponds to their M1c, the former’s M1a2 corresponds to their M1b, and the former’s M1a1 corresponds to their M1a. They go onto to add that the coalescence ages arrived by the two research group [that of Olivieri et al. and that of the present authors] also correlate. The present authors note that their coalescence time for M1c (25.7 +/- 6.6 ky) overlaps with Olivieri et al.’s coalescence time for M1b (23.4 +/- 5.6). Similarly, they note that their coalescence age for M1a (22.6 +/- 8.1ky) falls within that of Olivieri et al.’s age for M1a1 at 20.6 +/- 3.4ky. However, this makes way for great discrepancy between the said authors and Olivieri et al., whereby their coalescence age for M1b at 13.7 +/- 4.8ky falls quite short of the latter’s age for M1a2 at 24 +/- 5.7ky. Not only are the subgroup nomenclatures distinct, but this latter discrepancy makes an unsubtle difference, so as to no longer render M1c to be older than M1b, but rather, either place M1c at an age a bit younger or on par with the latter, which should be otherwise according to the present study. Though, by their own admission, the present authors favor Olivieri et al.’s methods over their own:
As our calculations are based only on three lineages and that of Olivieri et al on six, we think that their coalescence time estimation should be more accurate than ours. In fact, when time estimation is based on the eight different lineages (AFR-K143 is common to both sets) a coalescence age of 20.6 +/- ky is obtained. Posts: 1947 | Registered: Sep 2005
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posted
^To put the above compilation [of mine, prior to Clyde's post] into perspective, and keep it simple, the point is this:
Semino et al.'s demonstration of certain characteristic basic coding transitions of the M super-haplogroup [not including the key coding region motifs unique to the M1 family], springing directly from African ancestral motifs, don't require that M1 has to have a proto "non-African" M1, whereas an Asian origin of M1 would necessitate an Asian proto-M1 lineage that would explain the relatively young expansion ages of M1 and lack of descendancy from pre-existing Asian M lineages. This hasn't been acheived either by the present study or ones prior to it.
Posts: 1947 | Registered: Sep 2005
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In Table 2c the n=norm M1 the authors have the following numbers under Africa :
NWA 38
NEA 23
ETHj 67 (92)
CEAj 98(123)
SEAj 143(168)
The norm total according to the Table adds up to 369. But the authors claim it only represents 154. Why are the totals different?
.
You will likely get a better understanding of what is going on with the numbers, if you click on the top link provided on the very last page. It links to an excel sheet containing actual numbers used in the study, and those determined from other publications. Naturally, 25 Ethiopians who showed up positive for M1 and weren't part of their study, for example, were not included in their tally for the "261" total.
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posted
M1 is Asiatic in origin and it never came from Africa. The people who carry M1 was already in Asia.
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The authors claim that the norm represents 154 Africans carrying the M1 haplogroup in the study, yet it reports 369 nucleotides in Table 2c. I don't understand the conflicting numbers. Thanks in advance for your answer.
It is also clear that if they were using the same data, for their studies used by other researchers, there will be little conflict in the obtained results. If researchers continue to use the same material instead of collecting new material we will know very little about the actual genetic character of Africans.
Moreover, the authors admit that they use the greatest diversity theory. The greatest diversity theory maintains that the area where the greatest diversity exist, is usually the place of origin for a phenomena. Using this theory Ethiopia and East Africa would be the logical origin place for M1, not Asia.
To place the origin of M1 in Asia supports the view that expectancy bias influenced the study.
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-------------------- C. A. Winters Posts: 13012 | From: Chicago | Registered: Jan 2006
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posted
^That's not true Asia was once part of East Africa & Southern Africa. Or East Africa and Asia was once connected. If there were people scrolling the lands of Ethiopia then there were people, most likely from the same stock, strolling the nearby Asian lands. I guess I have to say that M1 is both African and Asiatic in origin, though the people in those time were most likely from the same stock.
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quote:Originally posted by Mystery Solver: ^To put the above compilation [of mine, prior to Clyde's post] into perspective, and keep it simple, the point is this:
Semino et al.'s demonstration of certain characteristic basic coding transitions of the M super-haplogroup [not including the key coding region motifs unique to the M1 family], springing directly from African ancestral motifs, don't require that M1 has to have a proto "non-African" M1, whereas an Asian origin of M1 would necessitate an Asian proto-M1 lineage that would explain the relatively young expansion ages of M1 and lack of descendancy from pre-existing Asian M lineages. This hasn't been acheived either by the present study or ones prior to it.
posted
source: MtDNA profile of West African Guineans. Towards Understanding of the Senegambian Region.
Since I am using this source as a template I noticed that the report itself, though the results do not lie, but some of the sweeping statements aint right! Go to the pdf and look at last page (pg 350) and it states close to end of first columm.... to wit "haplogroup R1 (defined by M173 mutation)...specifc to Europeans...but they go on to say that it accounted for ~40% of Y chromosomes in North Cameroon! Something specific to a group means no other group has that defined factor and I noticed this in at least 1/2 of these reports. These 'personal' tirades are at opposite ends of scientific inquiry. You look at the results and that is it!
I should know since I do this for a living (other scientific research area)
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Am. J. Hum. Genet., 66:1362-1383, 2000 mtDNA Variation in the South African Kung and Khwe and Their Genetic Relationships to Other African Populations
"The Asian mtDNA phylogeny is subdivided into two macrohaplogroups, one of which is M. M is delineated by a DdeI site at np 10394 and an AluI site of np 10397. The only African mtDNA found to have both of these sites is the Senegalese haplotype AF24. This haplotype branches off African subhaplogroup L3a (figs.2 and3), suggesting that haplogroup M mtDNAs might have been derived from this African mtDNA lineage..."
And now, the relevant representation in this recap diagram:
^The 10397 transition is shown in the L3-M linkage, while 10394, which should show up as positive [as exemplified in the above extract] in the M macrohaplogroup, shows up negative in the linkage between L3 and non-M affiliated lineages.
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posted
^ I'm a little confused. So underived M* originated in Africa and spread to Asia with the initial OOA migration, but M* in Africa developed into M1 whereas that in Asia through parallel mutation developed into different derivatives?
Posts: 26286 | From: Atlanta, Georgia, USA | Registered: Feb 2005
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quote:Originally posted by Djehuti: ^ I'm a little confused. So underived M* originated in Africa and spread to Asia with the initial OOA migration, but M* in Africa developed into M1 whereas that in Asia through parallel mutation developed into different derivatives?
No, the studies I posted, suggest that the basal motifs characteristic of the M macrohaplogroup arose in Africa, perhaps ~ 60,000 years ago or so. Sometime between 60 ky and 50 ky ago, these L3 offshoots were carried outside of Africa, amongst early successful a.m.h migrations, which resulted in the populations now living in the Indian-subcontinent, Melanesia and Australia who have these lineages. Not all the basal African L3M lineages, as Semino et al. convincingly put it, left the continent, as indicated by the basal L3a-M motif detected in Senegal, M1 diversity in Africa, particularly East Africa, both M1 and other M lineages detected in Ugandan samples, and lack of descendancy of M1 from older-coalescent Asian macrohaplogroup. Rather, it appears that the basal L3M lineages which remained in Africa, underwent a relatively limited demographic intra-African expansion until relatively recently, i.e. between 30-10 ky ago, compared to the Asian L3M derivatives, which underwent major expansions, naturally within the quantatively smaller founder immigrant groups, i.e. the founder effect.
M1 is likely the culmination of relatively more recent demographic expansions of basal L3M lineages in the African continent, with M1 derivative being a successful candidate, in what could have possibly involved other derivatives which might not have expanded to the same level intra-continentally, and subsequently, extra-continently as well.
M1 has strongly been correlated with the upper Paleolithic expansion of proto-Afrasan groups across the Sahara to coastal north Africa, and further eastward via the Sinai peninsula.
Posts: 1947 | Registered: Sep 2005
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quote:Originally posted by Djehuti: ^ I'm a little confused. So underived M* originated in Africa and spread to Asia with the initial OOA migration, but M* in Africa developed into M1 whereas that in Asia through parallel mutation developed into different derivatives?
No, the studies I posted, suggest that the basal motifs characteristic of the M macrohaplogroup arose in Africa, perhaps ~ 60,000 years ago or so. Sometime between 60 ky and 50 ky ago, these L3 offshoots were carried outside of Africa, amongst early successful a.m.h migrations, which resulted in the populations now living in the Indian-subcontinent, Melanesia and Australia who have these lineages. Not all the basal African L3M lineages, as Semino et al. convincingly put it, left the continent, as indicated by the basal L3a-M motif detected in Senegal, M1 diversity in Africa, particularly East Africa, both M1 and other M lineages detected in Ugandan samples, and lack of descendancy of M1 from older-coalescent Asian macrohaplogroup. Rather, it appears that the basal L3M lineages which remained in Africa, underwent a relatively limited demographic intra-African expansion until relatively recently, i.e. between 30-10 ky ago, compared to the Asian L3M derivatives, which underwent major expansions, naturally within the quantatively smaller founder immigrant groups, i.e. the founder effect.
M1 is likely the culmination of relatively more recent demographic expansions of basal L3M lineages in the African continent, with M1 derivative being a successful candidate, in what could have possibly involved other derivatives which might not have expanded to the same level intra-continentally, and subsequently, extra-continently as well.
M1 has strongly been correlated with the upper Paleolithic expansion of proto-Afrasan groups across the Sahara to coastal north Africa, and further eastward via the Sinai peninsula.
I'm with Djehuti. Are you saying that m* had TWO independent identical mutations that produced M1 in Africa and in Asia also?
Posts: 833 | From: Austin, TX | Registered: Jan 2007
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quote:Originally posted by Djehuti: ^ I'm a little confused. So underived M* originated in Africa and spread to Asia with the initial OOA migration, but M* in Africa developed into M1 whereas that in Asia through parallel mutation developed into different derivatives?
No, the studies I posted, suggest that the basal motifs characteristic of the M macrohaplogroup arose in Africa, perhaps ~ 60,000 years ago or so. Sometime between 60 ky and 50 ky ago, these L3 offshoots were carried outside of Africa, amongst early successful a.m.h migrations, which resulted in the populations now living in the Indian-subcontinent, Melanesia and Australia who have these lineages. Not all the basal African L3M lineages, as Semino et al. convincingly put it, left the continent, as indicated by the basal L3a-M motif detected in Senegal, M1 diversity in Africa, particularly East Africa, both M1 and other M lineages detected in Ugandan samples, and lack of descendancy of M1 from older-coalescent Asian macrohaplogroup. Rather, it appears that the basal L3M lineages which remained in Africa, underwent a relatively limited demographic intra-African expansion until relatively recently, i.e. between 30-10 ky ago, compared to the Asian L3M derivatives, which underwent major expansions, naturally within the quantatively smaller founder immigrant groups, i.e. the founder effect.
M1 is likely the culmination of relatively more recent demographic expansions of basal L3M lineages in the African continent, with M1 derivative being a successful candidate, in what could have possibly involved other derivatives which might not have expanded to the same level intra-continentally, and subsequently, extra-continently as well.
M1 has strongly been correlated with the upper Paleolithic expansion of proto-Afrasan groups across the Sahara to coastal north Africa, and further eastward via the Sinai peninsula.
I'm with Djehuti. Are you saying that m* had TWO independent identical mutations that produced M1 in Africa and in Asia also?
I can maybe understand Djehuti's 'confusion' before my last response, but what's your excuse? I just succinctly pointed out what the deal is. Where have I mentioned anything about "two independent identical mutations" therein?
Posts: 1947 | Registered: Sep 2005
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posted
I'd modify my earlier piece a little bit, by placing basal M motifs in Africa anywhere between 60-80 ky ago, since they would have likely been in the continent by the time of the 60 ky ago [some sources place it between 75-60 ky ago] or so OOA migrations of a.m.h.
posted
How does your postulate fit with Olivieri's paper?
Anna Olivieri, et al. 2006. “The mtDNA Legacy of the Levantine Early Upper Palaeolithic in Africa,” Science 314: 1767-1770
In contrast, a clade of M, referred to as M1, is present at high frequencies in the Horn of Africa and appears to be predominantly African-specific (Fig. 1 and table S1). This raises the possibility that M could have arisen in East Africa before the out of Africa exit (7, 8), or M1 might represent a back-migration into East Africa (9–11). The scenario of a back-migration into Africa is supported by another feature of the mtDNA phylogeny. Haplogroup M’s Eurasian sister clade, haplogroup N, which has a very similar age to M and no indication of an African origin, includes R, which in turn embraces haplogroup U (Fig. 1). Haplogroup U is subdivided into numerous clades (U1 to U9) and is characterized by an extremely broad geographical distribution ranging from Europe to India and Central Asia (12). However, one of its clades—U6—is mainly found in northern Africans (13, 14) but is also observed in eastern Africans (11), a situation that parallels that of M1, with the only difference being that M1 is more common in East Africa than in North Africa. The hypothesis of a back-migration from Asia to Africa is also strongly supported by the current phylogeography of the Y chromosome variation, because haplogroup K2 and paragroup R1b*, both belonging to the otherwise Asiatic macrohaplogroup K, have been observed at high frequencies only in Africa (15, 16). However, because of the relatively low molecular resolution of the Y chromosome phylogeny as compared to that of the mtDNA, it was impossible to come to a firm conclusion about the precise timing of this dispersal (15, 16). To shed some light on haplogroups M1 and U6 in Africa, we sequenced mtDNA genomes belonging to M1 (n = 51) and U6 (n = 30) from populations distributed over the geographical range of the two haplogroups. The phylogenies of the M1 and U6 sequences are illustrated in Figs. 2 and 3, respectively. The average sequence divergence [± standard error computed as in (17)] of the 51 M1 coding region sequences from the root of haplogroup M1 is 7.16 ± 1.38 substitutions (disregarding indels and pathological mutations), which corresponds to a coalescence time estimate of 36.8 ± 7.1 thousand years (ky) for the entire haplogroup M1 (18). The M1 tree shows an initial deep split into two sister subclades, M1a and M1b, each containing several independent basal branches, at least seven within M1a and two within M1b (Fig. 2). The M1a branch shows a coalescence time of 28.8 ± 4.9 ky (5.60 ± 0.96 substitutions). The other major branch of the tree, M1b, is also ancient, with an estimated coalescence time of 23.4 ± 5.6 ky (4.55 ± 1.08 substitutions), but in contrast to M1a, which encompasses the entire geographical range of M1, M1b is present only in the Mediterranean area (fig. S1). Haplogroup U6 is characterized by an overall coalescence time estimate of 45.1 ± 6.9 ky (8.77 ± 1.34 substitutions) (Fig. 3), and U6a (the most represented of its clades) has a coalescence time of 37.5 ± 4.3 ky (7.29 ± 0.83 substitutions). It is worth emphasizing that U6 is a sister clade of the European haplogroup U5 (Fig. 1), which is dated 41.4 ± 9.2 ka (12) and was most likely carried by the first European settlers (19). The overall coalescence age estimates for M1 (~37 ky) and U6 (~45 ky) are largely overlapping when standard errors are considered. This supports the scenario that M1 and U6 could have been involved in the same population expansion and dispersal events. Given that the origin of haplogroup U is West Asia and that the presence of U6 in Africa is due to gene flow from that area, the phylogeographic similarities between the two haplogroups indicate that M1 (or its molecular ancestor) is also of western Asian ancestry. This suggests that there was a migration event about 40 to 45 ka that concomitantly affected both haplogroups. An ancient arrival of M1 in Africa (or in its close proximity) is supported by the fact that none of the numerous M haplogroups in Asia (20, 21) harbors any of the distinguishing M1 root mutations, and by the lack of Asian-specific clades within M1 (and U6), as might be expected in the case of a more recent arrival. The arrival of M1 and U6 in Africa 40 to 45 ka would temporally overlap with the event(s) that led to the peopling of Europe by modern humans. This raises the possibility that the population(s) harboring M1, U6, and U5 (or their close molecular ancestors) were all living in the same broad geographic area of southwestern Asia, possibly in separate regional enclaves, and that they all were affected by an event that led to their expansion and relocation. It has been proposed that a change in climate conditions, fragmenting and reducing the desert areas (6), allowed humans to enter first the Levant and then Europe (4). However, such a climatic change would also render North Africa equally accessible from the Levant. Thus, while populations bearing U5 took part in the colonization of Europe, populations with M1 and U6 entered North Africa. Such a scenario implies that the population(s) harboring M1 and U6 did not return to Africa along the southern coastal route of the out of Africa exit but from the Mediterranean area. The Greenland Interstadial 12, from ~44 to ~48 ka (22, 23), could have been the main period of dispersal into the Levant and subsequently into North Africa. Furthermore, the distribution of M1b and most of the U6 clades only in Mediterranean regions indicates that both M1 and U6 differentiated into their major subclades while they were in the Mediterranean area, and only late some subsets of M1a (including its derivatives M1a1 and M1a2), U6a2, and U6d diffused to East Africa, possibly along the Nile Valley. It cannot be excluded that a further late dispersal of M1 and U6 within North and East Africa might have been associated with the diffusion, after the Last Glacial Maximum, of the emerging Afro- Asiatic language family. Indeed, M1 and U6 in Africa are mostly restricted to Afro-Asiatic– speaking areas.
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quote: Anna Olivieri, et al. 2006. “The mtDNA Legacy of the Levantine Early Upper Palaeolithic in Africa,” Science 314: 1767-1770
In contrast, a clade of M, referred to as M1, is present at high frequencies in the Horn of Africa and appears to be predominantly African-specific (Fig. 1 and table S1). This raises the possibility that M could have arisen in East Africa before the out of Africa exit (7, 8), or M1 might represent a back-migration into East Africa (9–11). The scenario of a back-migration into Africa is supported by another feature of the mtDNA phylogeny. Haplogroup M’s Eurasian sister clade, haplogroup N, which has a very similar age to M and no indication of an African origin, includes R, which in turn embraces haplogroup U (Fig. 1). Haplogroup U is subdivided into numerous clades (U1 to U9) and is characterized by an extremely broad geographical distribution ranging from Europe to India and Central Asia (12). However, one of its clades—U6—is mainly found in northern Africans (13, 14) but is also observed in eastern Africans (11), a situation that parallels that of M1, with the only difference being that M1 is more common in East Africa than in North Africa. The hypothesis of a back-migration from Asia to Africa is also strongly supported by the current phylogeography of the Y chromosome variation, because haplogroup K2 and paragroup R1b*, both belonging to the otherwise Asiatic macrohaplogroup K, have been observed at high frequencies only in Africa (15, 16). However, because of the relatively low molecular resolution of the Y chromosome phylogeny as compared to that of the mtDNA, it was impossible to come to a firm conclusion about the precise timing of this dispersal (15, 16). To shed some light on haplogroups M1 and U6 in Africa, we sequenced mtDNA genomes belonging to M1 (n = 51) and U6 (n = 30) from populations distributed over the geographical range of the two haplogroups. The phylogenies of the M1 and U6 sequences are illustrated in Figs. 2 and 3, respectively. The average sequence divergence [± standard error computed as in (17)] of the 51 M1 coding region sequences from the root of haplogroup M1 is 7.16 ± 1.38 substitutions (disregarding indels and pathological mutations), which corresponds to a coalescence time estimate of 36.8 ± 7.1 thousand years (ky) for the entire haplogroup M1 (18). The M1 tree shows an initial deep split into two sister subclades, M1a and M1b, each containing several independent basal branches, at least seven within M1a and two within M1b (Fig. 2). The M1a branch shows a coalescence time of 28.8 ± 4.9 ky (5.60 ± 0.96 substitutions). The other major branch of the tree, M1b, is also ancient, with an estimated coalescence time of 23.4 ± 5.6 ky (4.55 ± 1.08 substitutions), but in contrast to M1a, which encompasses the entire geographical range of M1, M1b is present only in the Mediterranean area (fig. S1). Haplogroup U6 is characterized by an overall coalescence time estimate of 45.1 ± 6.9 ky (8.77 ± 1.34 substitutions) (Fig. 3), and U6a (the most represented of its clades) has a coalescence time of 37.5 ± 4.3 ky (7.29 ± 0.83 substitutions). It is worth emphasizing that U6 is a sister clade of the European haplogroup U5 (Fig. 1), which is dated 41.4 ± 9.2 ka (12) and was most likely carried by the first European settlers (19). The overall coalescence age estimates for M1 (~37 ky) and U6 (~45 ky) are largely overlapping when standard errors are considered. This supports the scenario that M1 and U6 could have been involved in the same population expansion and dispersal events. Given that the origin of haplogroup U is West Asia and that the presence of U6 in Africa is due to gene flow from that area, the phylogeographic similarities between the two haplogroups indicate that M1 (or its molecular ancestor) is also of western Asian ancestry. This suggests that there was a migration event about 40 to 45 ka that concomitantly affected both haplogroups. An ancient arrival of M1 in Africa (or in its close proximity) is supported by the fact that none of the numerous M haplogroups in Asia (20, 21) harbors any of the distinguishing M1 root mutations, and by the lack of Asian-specific clades within M1 (and U6), as might be expected in the case of a more recent arrival. The arrival of M1 and U6 in Africa 40 to 45 ka would temporally overlap with the event(s) that led to the peopling of Europe by modern humans. This raises the possibility that the population(s) harboring M1, U6, and U5 (or their close molecular ancestors) were all living in the same broad geographic area of southwestern Asia, possibly in separate regional enclaves, and that they all were affected by an event that led to their expansion and relocation. It has been proposed that a change in climate conditions, fragmenting and reducing the desert areas (6), allowed humans to enter first the Levant and then Europe (4). However, such a climatic change would also render North Africa equally accessible from the Levant. Thus, while populations bearing U5 took part in the colonization of Europe, populations with M1 and U6 entered North Africa. Such a scenario implies that the population(s) harboring M1 and U6 did not return to Africa along the southern coastal route of the out of Africa exit but from the Mediterranean area. The Greenland Interstadial 12, from ~44 to ~48 ka (22, 23), could have been the main period of dispersal into the Levant and subsequently into North Africa. Furthermore, the distribution of M1b and most of the U6 clades only in Mediterranean regions indicates that both M1 and U6 differentiated into their major subclades while they were in the Mediterranean area, and only late some subsets of M1a (including its derivatives M1a1 and M1a2), U6a2, and U6d diffused to East Africa, possibly along the Nile Valley. It cannot be excluded that a further late dispersal of M1 and U6 within North and East Africa might have been associated with the diffusion, after the Last Glacial Maximum, of the emerging Afro- Asiatic language family. Indeed, M1 and U6 in Africa are mostly restricted to Afro-Asiatic– speaking areas.
Using the same methodology regarding syllogistic argument wherein "Furthermore, the distribution of M1b and most of the U6 clades only in Mediterranean regions indicates that both M1 and U6 differentiated into their major subclades while they were in the Mediterranean area, and only late some subsets of M1a (including its derivatives M1a1 and M1a2), U6a2, and U6d diffused to East Africa, possibly along the Nile Valley. It cannot be excluded that a further late dispersal of M1 and U6 within North and East Africa might have been associated with the diffusion......" so how do we know that said diffusion only occured within the Mediterranean? The same way M1B is mapped to the Mediterranean area, why do we assume that due to its wider 'diffusion' (larger pupulation showing said imprint) that that is the origin!
Based on those same sources, it could be exptrapolated that M1b began in East Africa but its proliferation occured with whatever event that caused the migratory pattern, meaning more M1b migratory waves from either E and/or N Africa!
Posts: 1290 | From: usa | Registered: May 2005
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Using the same methodology regarding syllogistic argument wherein "Furthermore, the distribution of M1b and most of the U6 clades only in Mediterranean regions indicates that both M1 and U6 differentiated into their major subclades while they were in the Mediterranean area, and only late some subsets of M1a (including its derivatives M1a1 and M1a2), U6a2, and U6d diffused to East Africa, possibly along the Nile Valley. It cannot be excluded that a further late dispersal of M1 and U6 within North and East Africa might have been associated with the diffusion......" so how do we know that said diffusion only occured within the Mediterranean? The same way M1B is mapped to the Mediterranean area, why do we assume that due to its wider 'diffusion' (larger pupulation showing said imprint) that that is the origin!
Based on those same sources, it could be exptrapolated that M1b began in East Africa but its proliferation occured with whatever event that caused the migratory pattern, meaning more M1b migratory waves from either E and/or N Africa!
From the figures and tables no M1b was found in East Africa. Several lineages were foud in Italy, one in Iraq, 2 in Moroccan Berbers and 1 in Mauritania.
On the other hand, M1a has a number of lineages in Ethiopia and has expanded to be present in Sardinia. This better fits your scenario.
Posts: 833 | From: Austin, TX | Registered: Jan 2007
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How does your postulate fit with Olivieri's paper?
The question is, how does my postulation, based on the works of various geneticists, but largely influenced by Semino et al.'s work fit with what you presented, in terms of the following...
Where is Olivieri's evidence of:
1)Proto-M1 in western Asia?
And...
2)Do Olivieri et al. take into account basal *characteristic* M macrohaplogroup motifs in Africa?
3)Do Olivieri et al. take into account the base nucleotides that the form the basis of the *characteristic* M macrohaplogroup?
4)Do Olivieri et al. take into account M1 diversity in Africa, and not elsewhere?
5)Do Olivieri et al. take into account the M1 highest frequencies in Africa, and not elsewhere?
6)Do Olivieri et al. take into account that no M1 has been found in South and east Asia, and that the little that is found in "southwest Asia" and "Europe" are derivatives of African examples?
7)Do Olivieri et al. take into account that M1 doesn't descend from any one Asian M macrohaplogroup derivatives?
^Let's start with these questions, and then proceed onto others, shall we.
Posts: 1947 | Registered: Sep 2005
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quote:Originally posted by Mystery Solver: No, the studies I posted, suggest that the basal motifs characteristic of the M macrohaplogroup arose in Africa, perhaps ~ 60,000 years ago or so. Sometime between 60 ky and 50 ky ago, these L3 offshoots were carried outside of Africa, amongst early successful a.m.h migrations, which resulted in the populations now living in the Indian-subcontinent, Melanesia and Australia who have these lineages. Not all the basal African L3M lineages, as Semino et al. convincingly put it, left the continent, as indicated by the basal L3a-M motif detected in Senegal, M1 diversity in Africa, particularly East Africa, both M1 and other M lineages detected in Ugandan samples, and lack of descendancy of M1 from older-coalescent Asian macrohaplogroup. Rather, it appears that the basal L3M lineages which remained in Africa, underwent a relatively limited demographic intra-African expansion until relatively recently, i.e. between 30-10 ky ago, compared to the Asian L3M derivatives, which underwent major expansions, naturally within the quantatively smaller founder immigrant groups, i.e. the founder effect.
M1 is likely the culmination of relatively more recent demographic expansions of basal L3M lineages in the African continent, with M1 derivative being a successful candidate, in what could have possibly involved other derivatives which might not have expanded to the same level intra-continentally, and subsequently, extra-continently as well.
M1 has strongly been correlated with the upper Paleolithic expansion of proto-Afrasan groups across the Sahara to coastal north Africa, and further eastward via the Sinai peninsula.
I think I understand now. M1 arose from the basal groups that never left the continent, but there are more Eurasian M derivatives due to greater demic expansion of a founder group.
Posts: 26286 | From: Atlanta, Georgia, USA | Registered: Feb 2005
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It was pointed out that macrohaplogroups M, N, and R are universally distributed in Eurasia but differentiated into distinct haplogroups in East Asia, Oceania, Southeast Asia, and the Andaman Islands in particular (Macaulay et al. 2005; Thangaraj et al. 2005). This finding is further strengthened by our newly obtained Indian M data because the mutations that characterize the basal M lineages in India are virtually unique and not shared by those of East Asian, Oceanian, and Southeast Asian M lineages (Ingman et al. 2000; Ingman and Gyllensten 2003; Kong et al. 2003; Tanaka et al. 2004; Friedlaender et al. 2005; Macaulay et al. 2005). This star-like and nonoverlapping pattern of the mtDNA phylogeny is in good agreement with the proposed scenario that the initial dispersal of modern human into Eurasia some 60 x 103 years ago was rather rapid along the Asian coastline (Macaulay et al. 2005; Thangaraj et al. 2005; Forster and Matsumura 2005). - Chang Sun et al.
^Speaking of the authors above, I accidentally linked their work to the wrong study [Rajkummar et al.] earlier, and so, I'm hereby providing the right link...
How does your postulate fit with Olivieri's paper?
The question is, how does my postulation, based on the works of various geneticists, but largely influenced by Semino et al.'s work fit with what you presented, in terms of the following...
Where is Olivieri's evidence of:
1)Proto-M1 in western Asia?
And...
2)Do Olivieri et al. take into account basal *characteristic* M macrohaplogroup motifs in Africa?
3)Do Olivieri et al. take into account the base nucleotides that the form the basis of the *characteristic* M macrohaplogroup motifs?
4)Do Olivieri et al. take into account M1 diversity in Africa, and not elsewhere?
5)Do Olivieri et al. take into account the M1 highest frequencies in Africa, and not elsewhere?
6)Do Olivieri et al. take into account that no M1 has been found in South and east Asia, and that the little that is found in "southwest Asia" and "Europe" are derivatives of African examples?
7)Do Olivieri et al. take into account that M1 doesn't descend from any one Asian M macrohaplogroup derivatives?
^Let's start with these questions, and then proceed onto others, shall we.
posted
^ I don't know. You tell us, if you've read the Olivieri study.
Posts: 26286 | From: Atlanta, Georgia, USA | Registered: Feb 2005
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^ I don't know. You tell us, if you've read the Olivieri study.
I asked those questions, precisely because I've read the Olivieri et al. piece. The questions are meant to drive home some specific points by way of answers to them, and precisely the reason they were placed before the 'intended' respondent, or else whomever, including yourself, to answer, if you have answers to them.
Posts: 1947 | Registered: Sep 2005
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