GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00001537
Main curator
Prigent
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Human Europeans with lighter skin pigmentation
Trait State in Taxon B
Human Native Americans with darker skin pigmentation
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
human
Synonyms
human; man; Homo sapiens Linnaeus, 1758; Home sapiens; Homo sampiens; Homo sapeins; Homo sapian; Homo sapians; Homo sapien; Homo sapience; Homo sapiense; Homo sapients; Homo sapines; Homo spaiens; Homo spiens; Humo sapiens
Rank
species
Lineage
Show more ... opterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; Homininae; Homo
NCBI Taxonomy ID
is Taxon A an Infraspecies?
Yes
Taxon A Description
Human Europeans with lighter skin pigmentation
Taxon B
Latin Name
Common Name
human
Synonyms
human; man; Homo sapiens Linnaeus, 1758; Home sapiens; Homo sampiens; Homo sapeins; Homo sapian; Homo sapians; Homo sapien; Homo sapience; Homo sapiense; Homo sapients; Homo sapines; Homo spaiens; Homo spiens; Humo sapiens
Rank
species
Lineage
Show more ... opterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; Homininae; Homo
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Human Native Americans with darker skin pigmentation
GENOTYPIC CHANGE
Generic Gene Name
EGFR
Synonyms
ERBB; HER1; mENA; ERBB1; PIG61; NISBD2
Sequence Similarities
Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily.
GO - Biological Process
GO:0007165 : signal transduction ... show more
UniProtKB
Homo sapiens
GenebankID or UniProtKB
Presumptive Null
Molecular Type
Aberration Type
Molecular Details of the Mutation
A>T associated SNP
Experimental Evidence
Authors
Quillen EE; Bauchet M; Bigham AW; Delgado-Burbano ME; Faust FX; Klimentidis YC; Mao X; Stoneking M; et al. ... show more
Abstract
Contemporary variation in skin pigmentation is the result of hundreds of thousands years of human evolution in new and changing environments. Previous studies have identified several genes involved in skin pigmentation differences among African, Asian, and European populations. However, none have examined skin pigmentation variation among Indigenous American populations, creating a critical gap in our understanding of skin pigmentation variation. This study investigates signatures of selection at 76 pigmentation candidate genes that may contribute to skin pigmentation differences between Indigenous Americans and Europeans. Analysis was performed on two samples of Indigenous Americans genotyped on genome-wide SNP arrays. Using four tests for natural selection--locus-specific branch length (LSBL), ratio of heterozygosities (lnRH), Tajima's D difference, and extended haplotype homozygosity (EHH)--we identified 14 selection-nominated candidate genes (SNCGs). SNPs in each of the SNCGs were tested for association with skin pigmentation in 515 admixed Indigenous American and European individuals from regions of the Americas with high ground-level ultraviolet radiation. In addition to SLC24A5 and SLC45A2, genes previously associated with European/non-European differences in skin pigmentation, OPRM1 and EGFR were associated with variation in skin pigmentation in New World populations for the first time.
Additional References
EXTERNAL LINKS
COMMENTS
YOUR FEEDBACK is welcome!