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Author Topic: Blonde Hair, 14kya in the Steppe ? Mathieson 2017
the lioness,
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quote:
Originally posted by DD'eDeN:
http://biorxiv.org/content/early/2017/05/09/135616

The derived allele of the KITLG SNP rs12821256 that is associated with – and likely causal for – blond hair in Europeans [4,5] is present in one hunter-gatherer from each of Samara, Motala and Ukraine (I0124, I0014 and I1763), as well as several later individuals with Steppe ancestry. Since the allele is found in populations with EHG but not WHG ancestry, it suggests that its origin is in the Ancient North Eurasian (ANE) population. Consistent with this, we observe that earliest known individual with the derived allele is the [Siberian] ANE individual Afontova Gora 3 which is directly dated to 16130-15749 cal BCE (14710±60 BP, MAMS-27186: a previously unpublished date that we newly report here).

[Ukraine, Motala-Sweden, Samara-Russia = Black Sea North to Baltic Sea

https://www.google.com/maps/dir/Motala,+Sweden/Samara,+Samara+Oblast,+Russia/@55.6463012,14.9257183,4z/data=!3m1!4b1!4m14!4m13!1m5!1m1!1s0x465bdcd950a4d43d:0x1fd1c7707f1ccb4f!2m2!1 d15.0470936!2d58.5380335!1m5!1m1!1s0x416618e22bd879d3:0xba95cda9bb3a030b!2m2!1d50.2212463!2d53.2415041!3e0

http://www.anthrogenica.com/archive/index.php/t-3975.html

^^^ The link at the top of the quote is to

The Genomic History of Southeastern Europe
Iain Mathieson et al 2017

again here:

http://biorxiv.org/content/biorxiv/early/2017/05/09/135616.full.pdf

However the quote on blondes appears on page 50 in the supplement to the same article here:

http://biorxiv.org/content/biorxiv/suppl/2017/05/09/135616.DC1/135616-1.pdf


.

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DD'eDeN
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Yes, thanks for clarification.
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Clyde Winters
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Here are the ancient Black Europeans

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C. A. Winters

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the lioness,
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^ they don't match European 14kya physical morphology of Europeans much less DNA

keyword 14kya

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Ish Geber
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quote:
Originally posted by the lioness,:
^ they don't match European 14kya physical morphology of Europeans much less DNA

keyword 14kya

How do you know this?


Enjoy, Europe | First Peoples - PBS NOVA 2015


https://www.youtube.com/watch?v=5sM7Tr8qlvU

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When Homo sapiens turned up in prehistoric Europe, they ran into the Neanderthals. The two types of human were similar enough – intellectually and culturally - to interbreed. But as more Homo sapiens moved into Europe and the population increased, there was an explosion of art and symbolic thought which overwhelmed the Neanderthals.

http://www.pbssocal.org/programs/first-peoples/first-peoples-europe/

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Clyde Winters
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In many papers on ancient European genomics, the researchers claim that R1b1* is associated with R-M269. But in reality many Africans carry R1b1* as pointed out by Gemma Berniell-Lee et al (2009) and therefore this haplogroup, now associated with so-called Indo-Europeans, is an African clade.

Gemma Berniell-Lee Francesc Calafell Elena Bosch Evelyne Heyer Lucas Sica Patrick Mouguiama-Daouda Lolke van der Veen Jean-Marie Hombert Lluis Quintana-Murci David Comas
Mol Biol Evol (2009) 26 (7): 1581-1589.
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The I1024 individual from Samara was found to be R1b1 in Haak et al 2015, and R1b1a1a (M73) by Mathieson et al 2017. These clades are associated with V88

Clearly these blond haired Europeans were carrying V88 clades.

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C. A. Winters

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Clyde Winters
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quote:
Originally posted by the lioness,:
^ they don't match European 14kya physical morphology of Europeans much less DNA

keyword 14kya

Fu, Q., Posth, C., Hajdinjak, M., Petr, M., Mallick, S., Fernandes, D., … Reich, D. (2016). The genetic history of Ice Age Europe. Nature, 534(7606), 200–205. http://doi.org/10.1038/nature17993
.

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Fu et al (2016) gives a fine discussion of the genetic history of Europe. It is interesting to note that the authors claim that the oldest R1b-M343 lineages, is 14 KYA Villabruna Man from Italy. The Villabruna man carried R1b1. R1b1 is a clade carried by V88 individuals.

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C. A. Winters

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Clyde Winters
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 -
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.

Below are Cruciani 2010, V88 clades
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Many of the V88 clades noted by Cruciani et al 2010, are seen in many so-called Ancient European R1 clades.

Below are the V88 clades from Iain Mathieson et al 2017
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According to Cruciani 2010, R1b1a is V88*.


Reference

Iain Mathieson et al 2017, The Genomic History of Southeastern Europe, http://biorxiv.org/content/biorxiv/early/2017/05/09/135616.full.pdf

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C. A. Winters

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Narmerthoth
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The OP paper is pure BS!
KITLG isn't responsible for blond hair and the test that modified the mouse gene causing the hair to "lighten" isn't a valid test to state the gene is responsible for blond hair in mice or humans.

in the words of Barnam; "There's a sucker born every minute".

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Selenium gives real life and true reality

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the lioness,
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quote:
Originally posted by Narmerthoth:
The OP paper is pure BS!
KITLG isn't responsible for blond hair and the test that modified the mouse gene causing the hair to "lighten" isn't a valid test to state the gene is responsible for blond hair in mice or humans.

in the words of Barnam; "There's a sucker born every minute".

 -

what is responsible for blond hair? Please enlighten

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Ish Geber
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quote:
Originally posted by the lioness,:
quote:
Originally posted by Narmerthoth:
The OP paper is pure BS!
KITLG isn't responsible for blond hair and the test that modified the mouse gene causing the hair to "lighten" isn't a valid test to state the gene is responsible for blond hair in mice or humans.

in the words of Barnam; "There's a sucker born every minute".

 -

what is responsible for blond hair? Please enlighten

Is the KITLG gene also found in populations such as in the picture above?
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Narmerthoth
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Mouse Color genes
http://www.espcr.org/micemut/

Genetics is such a pseudoscience!

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Selenium gives real life and true reality

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the lioness,
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quote:
Originally posted by the lioness,:
quote:
Originally posted by Narmerthoth:
The OP paper is pure BS!
KITLG isn't responsible for blond hair and the test that modified the mouse gene causing the hair to "lighten" isn't a valid test to state the gene is responsible for blond hair in mice or humans.

in the words of Barnam; "There's a sucker born every minute".

 -

what is responsible for blond hair? Please enlighten

As I suspected, no answer
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Narmerthoth
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I listed the genes for blond hair 4 years and then again, 2 years ago.
You didn't learn then and now you want me to waste more time on you?
LOL

Show me in the link I provided where it indicates KITL is responsible for blond hair, or any form of hair color?

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the lioness,
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 -

Don't bother, nobody* is keeping track of what do did or didn't do 4 years ago


The naturally blond hair of Melanesians is caused by a recessive mutation in tyrosinase-related protein 1 (TYRP1). In the Solomon Islands, 26% of the population carry the gene; however, it is absent outside of Oceania.

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the lioness,
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 -

In northern Europeans, the closest gene to an
SNP that was strongly linked to blondness was KITLG, which codes
for a protein that is key to making sure cells go to their proper places in the body and specialize accordingly.

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Narmerthoth
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^ Fail!
That blond hair and blue eyes are the result of the OCA mutation. Not KITLG.

KitLG has absolutely NOTHING to do with the HUMAN Tyrosine pathway or the genes responsible for inhibiting it.
To date, there is absolutely no evidence that the mutation observed in mice is also present in humans. None has ever been detected.
The presence of KITLG in humans has been detected in various forms of cancer in humans.

http://atlasgeneticsoncology.org/Genes/MGFID142.html

OCA2 (OCA2 melanosomal transmembrane protein)
Written 2016-04 Kunal Ray, Mainak Sengupta, Sampurna Ghosh
Academy of Scientific and Innovative Research (AcSIR), Campus at CSIR - Central Road Research Institute, Mathura Road, New Delhi - 110 025, kunalray@gmail.com (KR); University of Calcutta, Department of Genetics, 35, Ballygunge Circular Road, Kolkata - 700 019, sengupta.mainak@gmail.com); sampurna_ghosh@yahoo.in (MS, SG) India.

Abstract
OCA2 gene (OCA2), having a chromosomal location of 15q12-q13, encodes an integral membrane transporter protein playing a role in regulating the pH of melanosomes.
OCA2 is hypothesized to be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Defects in this gene are the cause of oculocutaneous albinism type II; OCA II.

SLC45A2 solute carrier family 45 member 2 [ Homo sapiens (human) ]

Also known as
1A1; AIM1; MATP; OCA4; SHEP5

Summary
This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines.
Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene.

As can be seen in this list of Genes in mice that regulate pigment, Adam17, Gata3, and Mpcl3 mutations may result in "lighter" hair color, but not Kitlg, which when mutated may cause "Abnormal" UNPREDICTABLE hair "Spotting".
That experiment was bogus!

http://www.espcr.org/micemut/

--------------------
Selenium gives real life and true reality

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the lioness,
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https://www.ncbi.nlm.nih.gov/pubmed/24880339

Nat Genet. 2014 Jul;46(7):748-52. doi: 10.1038/ng.2991. Epub 2014 Jun 1.
A molecular basis for classic blond hair color in Europeans.

Guenther CA1, Tasic B2, Luo L3, Bedell MA4, Kingsley DM1.
Author information

Abstract
Hair color differences are among the most obvious examples of phenotypic variation in humans. Although genome-wide association studies (GWAS) have implicated multiple loci in human pigment variation, the causative base-pair changes are still largely unknown. Here we dissect a regulatory region of the KITLG gene (encoding KIT ligand) that is significantly associated with common blond hair color in northern Europeans. Functional tests demonstrate that the region contains a regulatory enhancer that drives expression in developing hair follicles. This enhancer contains a common SNP (rs12821256) that alters a binding site for the lymphoid enhancer-binding factor 1 (LEF1) transcription factor, reducing LEF1 responsiveness and enhancer activity in cultured human keratinocytes. Mice carrying ancestral or derived variants of the human KITLG enhancer exhibit significant differences in hair pigmentation, confirming that altered regulation of an essential growth factor contributes to the classic blond hair phenotype found in northern Europeans.

___________________________________

https://www.karger.com/Article/PDF/468538


Dermatology 2017;233:1–15 DOI: 10.1159/000468538
2016

KITLG: A Gene for Blonde Hair Colour

Piebaldism, an autosomal dominant disorder caused by altered melanocyte proliferation and migration pre- senting as white spotting patches of the skin or hair, has been associated with mutations in the c-KIT gene [70]. Normal variation in this gene is seen, such as rs3822214*A/C M541L is around 9.7% allele frequency [1, 60], but there are no population-specific or pheno- typic associations seen with this allele. The ligand for the KIT receptor KITLG is known to regulate the number of melanocytes during development and melanin distribu- tion in the skin; it is also known to activate keratinocytes to produce promelanogenic factors and keratinocyte growth factors to promote melanosome phagocytosis and activate the onset of familial progressive syndromes of both hyper- and hypo-pigmentation [70, 71]. Histologi- cally, hyper-pigmented areas exhibit normal epidermis with strongly hyperpigmented basal keratinocytes and melanophages in the upper dermis. The absence of sys- temic symptoms and signs suggests a pathogenesis relat- ed to melanogenesis. A transversion (c.107A>G) in exon 2 of KITLG is responsible for inherited familial progres- sive hyperpigmentation, producing a gain-of-function defect in tyrosinase activity and melanin synthesis [70].
The first indication that polymorphism of KITLG could be associated with human skin colour was the re- port that rs642742*T/C was associated with a higher mel- anin index in an African-American population. The non- coding rs12821256*T/C SNP located in a large intergenic region over 350 kb upstream of the KITLG transcription start site alters the binding site for the lymphoid enhanc- er-binding factor (LEF) transcription factor. This reduces LEF responsiveness and enhances activity in cultured hu- man keratinocytes [72], impacting the expression of the gene. The SNP rs12821256 is genetically associated with blonde hair in northern European populations such as Iceland and the Netherlands at a frequency of 13% [3, 71–74].

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Narmerthoth
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I've already read that report, and other containing more data.

I ask you, In the mouse under test, what were the mutated states of Adam17, Gata3, and Mpcl3, all of which are directly related to hair color where KITLG is not, and how many mice was the experiment replicated on?

Also, in the test results, the hair color change was described as "lightened" and not specifically, blond.
Since the author didn't bother to state what the original hair color of the mouse was (black, Brown, tan), who knows what the "lightened" state actually was.

In addition, pre/post diet could also effect hair color. What diet was the mouse given, One rich or deficient in Tyrosine?

In figure 2 of the report, the two primary contributors of eumelnin or pheomelanin production are shown; Tyrosine and cysteine.
The report fails to observe and report the levels of cysteine in the mouse under test before and after the KITLG mutation. This is important because as long as cysteine is present, no eumelanin is produced. Only pheomelanin. Thus, brown/blond hair.
If the mouse hair color was already brown, then lightening was not due to KITLG only.

All this test data should have been reported, but wasn't.

The case that KITLG alone is primarily the cause for blond hair is bogus!
In the report's final conclusion, they all but admit the primary genes responsible for skin, eye and hair color are TYR, OCA2,MC1R, SLC45A2, and SLC24A5. Defects in any one of these cause albinism symptoms. I.E., blond hair, blue eyes, and white skin.
Although contrary to what the mainstream and the report would have you believe, OCA2 is a defect.
Not to mention, according to the albinism database, mutations in KITLG have been observed in mice, but never in modern day humans, so it's strange they are suddenly found in latter day Europeans.

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Ish Geber
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quote:
Originally posted by Ish Gebor:
quote:
Originally posted by the lioness,:
quote:
Originally posted by Narmerthoth:
The OP paper is pure BS!
KITLG isn't responsible for blond hair and the test that modified the mouse gene causing the hair to "lighten" isn't a valid test to state the gene is responsible for blond hair in mice or humans.

in the words of Barnam; "There's a sucker born every minute".

 -

what is responsible for blond hair? Please enlighten

Is the KITLG gene also found in populations such as in the picture above?
As I suspected, no answer.
Posts: 22234 | From: האם אינכם כילדי הכרית אלי בני ישראל | Registered: Nov 2010  |  IP: Logged | Report this post to a Moderator
Ish Geber
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quote:
Originally posted by Narmerthoth:
I've already read that report, and other containing more data.

I ask you, In the mouse under test, what were the mutated states of Adam17, Gata3, and Mpcl3, all of which are directly related to hair color where KITLG is not, and how many mice was the experiment replicated on?

Also, in the test results, the hair color change was described as "lightened" and not specifically, blond.
Since the author didn't bother to state what the original hair color of the mouse was (black, Brown, tan), who knows what the "lightened" state actually was.

In addition, pre/post diet could also effect hair color. What diet was the mouse given, One rich or deficient in Tyrosine?

In figure 2 of the report, the two primary contributors of eumelnin or pheomelanin production are shown; Tyrosine and cysteine.
The report fails to observe and report the levels of cysteine in the mouse under test before and after the KITLG mutation. This is important because as long as cysteine is present, no eumelanin is produced. Only pheomelanin. Thus, brown/blond hair.
If the mouse hair color was already brown, then lightening was not due to KITLG only.

All this test data should have been reported, but wasn't.

The case that KITLG alone is primarily the cause for blond hair is bogus!
In the report's final conclusion, they all but admit the primary genes responsible for skin, eye and hair color are TYR, OCA2,MC1R, SLC45A2, and SLC24A5. Defects in any one of these cause albinism symptoms. I.E., blond hair, blue eyes, and white skin.
Although contrary to what the mainstream and the report would have you believe, OCA2 is a defect.
Not to mention, according to the albinism database, mutations in KITLG have been observed in mice, but never in modern day humans, so it's strange they are suddenly found in latter day Europeans.

Lioness doesn't evaluate like a chemist, lioness simply takes things for face value because they say so.
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Narmerthoth
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OK, I finally have an understanding of the role KITL plays in skin color.

It has no direct influence on melanin manufacture or melanosome creation.
What it has a partial influence on is melanocyte distribution. To what extent, it is unknown, but it can influence how loosely melanocyte are distributed in skin.
This is why KITLG is described as a gene mutation that can cause "spotting" due to it widening the space between adjacent melanocytes.

Therefore, as I already deduced, it has no direct influence on black/brown/blond hair color.

Piebaldism due to c-kit defect
http://emedicine.medscape.com/article/1113248-overview

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Distinguished physician with mark of distinction, a white forelock that his father and grandfather also shared.

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The blonde blue eyed Orangutan giggles apeishly

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The blonde blue eyes Gorilla is curious.

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