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Thread: Blonde hair study (Guenther et al. 2014)

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    Blonde hair study (Guenther et al. 2014)

    From Dienekes' entry. I would've posted this in the New DNA Papers thread, but the SNP highlighted here can be found in 23andMe's chips.

    Please note that, on 23andMe, the ancestral (non-blonde) allele will be T and derived (blonde) C.

    One curious find is the slight increase in derived/blonde alleles in one part of Southeast Asia relative to the rest, at a level consistent with the African Horn. Could this be attributed to the Hmong?

    Nevertheless, as the authors state, hair colour is a polygenetic trait and this appears to be a significant, but not definitive gene, for the blonde hair phenotype among Europeans specifically.

    A molecular basis for classic blond hair color in Europeans
    Catherine A Guenther et al.; Nature Genetics (2014) doi:10.1038/ng.2991
    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 unknown1. Here we dissect a regulatory region of the KITLG gene (encoding KIT ligand) that is significantly associated with common blond hair color in northern Europeans2. 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.

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    Makes me wonder if the blond gene from the Hmong made its way into the Melanesian population. Or could it be that the blond gene developed independently? Melanesia_Blond.jpg

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    I recall the Melanesian gene for blonde hair reportedly differs from those found in West Eurasians. It'd be interesting to see whether this mutation has any connection with the Melanesian people.

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    I got lots of great pictures of blondes, if you need any

    Mike
    Furthest Y line=Patrick Whealen 1816-1874, b.Tipperary Co. Ire. d. Kincardine Ont.

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    Quote Originally Posted by MikeWhalen View Post
    I got lots of great pictures of blondes, if you need any
    Does the carpet match the drapes?

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    Quote Originally Posted by thetick View Post
    Does the carpet match the drapes?
    Probably not!

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    It's interesting that the G allele exists in Mongolia. I wonder what the prevalence would be among Mongolian Kazakhs vs ethnic Mongols..

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    @Mehrdad The Melanesians have MP y-dna just like the Europeans. These Melanesians are not related to the Hmong.
    Last edited by venustas; 06-03-2014 at 03:28 AM.
    Maternal Uncle y-line= F0R1b1-L21

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    How come blond Siberians don't exist, And to be honest that gene looks like it is associated with U5 mtdna.
    Maternal Uncle y-line= F0R1b1-L21

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    carpet? what carpet?



    M

    Quote Originally Posted by thetick View Post
    Does the carpet match the drapes?
    Furthest Y line=Patrick Whealen 1816-1874, b.Tipperary Co. Ire. d. Kincardine Ont.

    Y-DNA-RL21-L513-Z23516-BY11142('lost Irish 'C' boys?')

    FTDNA=P312+ P25+ M343+ M269+ M207+ M173+ L513+ U198- U152- U106- SRY2627- P66- P107- M73- M65- M37- M222- M18- M160- M153- M126- L705- L577- L193- L159.2- L1333-
    Big-Y=Z23516+
    23&me=L21+
    E.A.= S21-, S26-, S28-, S29-, S68-
    Geno 2 (N.G.P.) H1bd+

    Whalen/Phelan DNA Surname Project
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