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A molecular basis for classic blond hair color in Europeans
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A molecular basis for classic blond hair color in Europeans
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Journal Article
A molecular basis for classic blond hair color in Europeans
2014
Overview
David Kingsley and colleagues functionally investigate a previously identified GWAS region in an enhancer of the
KITLG
gene (encoding KIT ligand) that is significantly associated with blond hair color in northern European populations. They show that a single regulatory SNP, located 350,000 bp upstream of the human gene, reduces the activity of a tissue-specific hair follicle enhancer and is sufficient to alter hair color in mice.
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
1
. 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
2
. 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.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ 38/109
/ 38/88
/ 64/110
/ Animal Genetics and Genomics
/ Animals
/ Blondes
/ Color
/ Embryo, Mammalian - cytology
/ Embryo, Mammalian - metabolism
/ Enhancer Elements, Genetic - genetics
/ Genes
/ Genome-Wide Association Study
/ Genomes
/ Genomics
/ Hair
/ Humans
/ Kinases
/ letter
/ Lymphoid Enhancer-Binding Factor 1 - metabolism
/ Mice
/ Mutation
/ Polymorphism, Single Nucleotide - genetics
/ Real-Time Polymerase Chain Reaction
/ Reverse Transcriptase Polymerase Chain Reaction
/ Rodents
/ Skin
