A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia

dc.date.accessioned2019-12-06T21:02:56Z
dc.date.available2019-12-06T21:02:56Z
dc.date.created2019-12-06T21:02:56Z
dc.date.issued2019
dc.identifierhttps://hdl.handle.net/20.500.12866/7500
dc.identifierhttps://doi.org/10.1038/s41467-018-08147-0
dc.description.abstractWe report a genome-wide association scan in >6,000 Latin Americans for pigmentation of skin and eyes. We found eighteen signals of association at twelve genomic regions. These include one novel locus for skin pigmentation (in 10q26) and three novel loci for eye pigmentation (in 1q32, 20q13 and 22q12). We demonstrate the presence of multiple independent signals of association in the 11q14 and 15q13 regions (comprising the GRM5/TYR and HERC2/OCA2 genes, respectively) and several epistatic interactions among independently associated alleles. Strongest association with skin pigmentation at 19p13 was observed for an Y182H missense variant (common only in East Asians and Native Americans) in MFSD12, a gene recently associated with skin pigmentation in Africans. We show that the frequency of the derived allele at Y182H is significantly correlated with lower solar radiation intensity in East Asia and infer that MFSD12 was under selection in East Asians, probably after their split from Europeans.
dc.languageeng
dc.publisherSpringer Nature
dc.relationNature Communications
dc.relation2041-1723
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectallele
dc.subjectAlleles
dc.subjectamino acid substitution
dc.subjectArticle
dc.subjectAsian continental ancestry group
dc.subjectAsian Continental Ancestry Group
dc.subjectbinding site
dc.subjectBiological Evolution
dc.subjectcarrier protein
dc.subjectCaucasian
dc.subjectchromosome 1q
dc.subjectchromosome 20q
dc.subjectchromosome 22q
dc.subjectcontrolled study
dc.subjectconvergent evolution
dc.subjectepistasis
dc.subjectEpistasis, Genetic
dc.subjectethnic group
dc.subjectEthnic Groups
dc.subjectEuropean Continental Ancestry Group
dc.subjectevolution
dc.subjectexon
dc.subjecteye color
dc.subjectEye Color
dc.subjectfemale
dc.subjectFemale
dc.subjectgene expression
dc.subjectGene Expression
dc.subjectgene frequency
dc.subjectGene Frequency
dc.subjectgene linkage disequilibrium
dc.subjectgene locus
dc.subjectgenetic association
dc.subjectgenetics
dc.subjectGenetics, Population
dc.subjectgenome-wide association study
dc.subjectGenome-Wide Association Study
dc.subjectGenome, Human
dc.subjectGRM5 protein, human
dc.subjectguanine nucleotide exchange factor
dc.subjectGuanine Nucleotide Exchange Factors
dc.subjecthair root
dc.subjectHERC2 protein, human
dc.subjecthuman
dc.subjecthuman cell
dc.subjecthuman experiment
dc.subjecthuman genome
dc.subjecthuman tissue
dc.subjectHumans
dc.subjectimmunohistochemistry
dc.subjectintron
dc.subjectLatin America
dc.subjectLatin American medicine
dc.subjectmale
dc.subjectMale
dc.subjectmedical photography
dc.subjectmelanin
dc.subjectmelanocyte
dc.subjectmembrane protein
dc.subjectMembrane Proteins
dc.subjectMembrane Transport Proteins
dc.subjectmetabotropic receptor 5
dc.subjectMFSD12 protein, human
dc.subjectnormal human
dc.subjectOCA2 protein, human
dc.subjectphenotype
dc.subjectphenotypic variation
dc.subjectPolymorphism, Single Nucleotide
dc.subjectpopulation genetics
dc.subjectQuantitative Trait Loci
dc.subjectquantitative trait locus
dc.subjectReceptor, Metabotropic Glutamate 5
dc.subjectsingle nucleotide polymorphism
dc.subjectskin color
dc.subjectskin pigmentation
dc.subjectSkin Pigmentation
dc.subjectsolar radiation
dc.subjectSouth and Central America
dc.subjecttranscription factor EMX2
dc.subjecttranscription factor YY1
dc.titleA GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia
dc.typeinfo:eu-repo/semantics/article


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