FLICKR, WICKER PARADISEWhile genome-wide association studies had previously implicated several loci in human hair color variation, by homing in on the a regulatory region of the KITLG gene, a team led by investigators at Stanford University School of Medicine has now uncovered a single nucleotide polymorphism (SNP) that affects the regulation of an essential growth factor and contributes to blond hair. The work was published in Nature Genetics yesterday (June 1).
The SNP, called rs12821256, alters a binding site for the lymphoid enhancer-binding factor 1 (LEF1) transcription factor, which in turn reduces LEF1 responsiveness and enhancer activity in cultured human keratinocytes, the researchers reported. The team also investigated the effects of variants of the human KITLG enhancer in mice, finding differences in hair pigmentation that confirmed “altered regulation of an essential growth factor contributes to the classic blond hair phenotype found in northern Europeans,” the authors wrote in their paper.
“Regulatory DNA is very likely to play an important role in pigmentation in general,” Eiríkur Steingrímsson, a molecular biologist at the University of Iceland, Reykjavik, who was not involved in the study, told Science.