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Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.
Manfred Kayser et al.
American journal of human genetics 82 (2), 411-23 (Feb 2008)
info:pmid/18252221 | info:doi/10.1016/j.ajhg.2007.10.003
Posted by jbowes to eye colour on Tue Mar 25 2008 at 11:01 UTC | info | related
 
A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.
Richard A Sturm et al.
American journal of human genetics 82 (2), 424-31 (Feb 2008)
info:pmid/18252222 | info:doi/10.1016/j.ajhg.2007.11.005
Posted by jbowes to eye colour on Tue Mar 25 2008 at 11:01 UTC | info | related
 
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 Eiberg et al.
Human genetics 123 (2), 177-87 (Mar 2008)
info:pmid/18172690 | info:doi/10.1007/s00439-007-0460-x
Posted by jbowes to eye colour on Tue Mar 25 2008 at 11:01 UTC | info | related

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