has been posted before .
On May 12, 8:11 am, ayaz <hackedyetag...@[EMAIL PROTECTED]
> wrote:
> Human Genetics
>
> Blue eye color in humans may be caused by a perfectly associated
> founder mutation in a regulatory element located within the HERC2 gene
> inhibiting OCA2 expression
>
> Hans Eiberg1 , Jesper Troelsen1, Mette Nielsen1, Annemette Mikkelsen1,
> Jonas Mengel-From2, Klaus W. Kjaer1, 3 and Lars Hansen1, 3
>
> (1) Department of Cellular and Molecular Medicine, Section IV Build.
> 24.4, Panum Institute, University of Copenhagen, Blegdamsvej 3b, 2200
> Copenhagen, Denmark
> (2) Institute of Forensic Genetics, University of Copenhagen, Fredrik
> V's vej 11, 2100 Copenhagen, Denmark
> (3) The Wilhelm Johannsen Centre for Functional Genome Research,
> Department of Cellular and Molecular Medicine, Panum Institute,
> University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen, Denmark
>
> Hans Eiberg
> Email: h...@[EMAIL PROTECTED]
>
> Received: 31 October 2007 Accepted: 18 December 2007 Published
> online: 3 January 2008
>
> Abstract The human eye color is a quantitative trait displaying
> multifactorial inheritance. Several studies have shown that the OCA2
> locus is the major contributor to the human eye color variation. By
> linkage analysis of a large Danish family, we finemapped the blue eye
> color locus to a 166 Kbp region within the HERC2 gene. By association
> analyses, we identified two SNPs within this region that were
> perfectly associated with the blue and brown eye colors: rs12913832
> and rs1129038. Of these, rs12913832 is located 21.152 bp upstream from
> the OCA2 promoter in a highly conserved sequence in intron 86 of
> HERC2. The brown eye color allele of rs12913832 is highly conserved
> throughout a number of species. As shown by a Luciferase assays in
> cell cultures, the element significantly reduces the activity of the
> OCA2 promoter and electrophoretic mobility ****ft assays demonstrate
> that the two alleles bind different subsets of nuclear extracts. One
> single haplotype, represented by six polymorphic SNPs covering half of
> the 3′ end of the HERC2 gene, was found in 155 blue-eyed
individuals
> from Denmark, and in 5 and 2 blue-eyed individuals from Turkey and
> Jordan, respectively. Hence, our data suggest a common founder
> mutation in an OCA2 inhibiting regulatory element as the cause of blue
> eye color in humans. In addition, an LOD score of Z = 4.21 between
> hair color and D14S72 was obtained in the large family, indicating
> that RABGGTA is a candidate gene for hair color.
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