The distinctive geographic patterns of common pigmentation variants at the OCA2 gene.

Alleles Europe Eye Color / genetics Genotype Humans Iris / physiology Membrane Transport Proteins / genetics Pigmentation / genetics Polymorphism, Single Nucleotide / genetics

Journal

Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288

Informations de publication

Date de publication:
22 09 2020
Historique:
received: 14 04 2020
accepted: 17 08 2020
entrez: 23 9 2020
pubmed: 24 9 2020
medline: 18 12 2020
Statut: epublish

Résumé

Oculocutaneous Albinism type 2 (OCA2) is a gene of great interest because of genetic variation affecting normal pigmentation variation in humans. The diverse geographic patterns for variant frequencies at OCA2 have been evident but have not been systematically investigated, especially outside of Europe. Here we examine population genetic variation in and near the OCA2 gene from a worldwide perspective. The very different patterns of genetic variation found across world regions suggest strong selection effects may have been at work over time. For example, analyses involving the variants that affect pigmentation of the iris argue that the derived allele of the rs1800407 single nucleotide polymorphism, which produces a hypomorphic protein, may have contributed to the previously demonstrated positive selection in Europe for the enhancer variant responsible for light eye color. More study is needed on the relationships of the genetic variation at OCA2 to variation in pigmentation in areas beyond Europe.

Identifiants

DOI: 10.1038/s41598-020-72262-6 PMID: 32963319 PMC: PMC7508881
pubmed: 32963319
doi: 10.1038/s41598-020-72262-6
pii: 10.1038/s41598-020-72262-6
pmc: PMC7508881
doi:

Substances chimiques

Membrane Transport Proteins 0
OCA2 protein, human 0

Types de publication

Journal Article Research Support, U.S. Gov't, Non-P.H.S.

Langues

eng

Sous-ensembles de citation

IM

Pagination

15433

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Auteurs

Kenneth K Kidd (KK)

Professor Emeritus, Department of Genetics, Yale University School of Medicine, P.O. Box 208005, New Haven, CT, 06520-8005, USA. Kenneth.Kidd@yale.edu.

Andrew J Pakstis (AJ)

Professor Emeritus, Department of Genetics, Yale University School of Medicine, P.O. Box 208005, New Haven, CT, 06520-8005, USA.

Michael P Donnelly (MP)

Professor Emeritus, Department of Genetics, Yale University School of Medicine, P.O. Box 208005, New Haven, CT, 06520-8005, USA.
Biological and Environmental Sciences, Troy University, Dothan, AL, 36303, USA.

Ozlem Bulbul (O)

Institute of Forensic Science, Istanbul University-Cerrahpasa, Istanbul, 34500, Turkey.

Lotfi Cherni (L)

Laboratory of Genetics, Immunology and Human Pathologies, Faculty of Sciences of Tunis, University of Tunis El Manar, 2092, Tunis, Tunisia.
Higher Institute of Biotechnology of Monastir, Monastir University, 5000, Monastir, Tunisia.

Cemal Gurkan (C)

Turkish Cypriot DNA Laboratory, Committee on Missing Persons in Cyprus Turkish Cypriot Member Office, Nicosia, North Cyprus), Turkey.
Dr. Fazıl Küçük Faculty of Medicine, Eastern Mediterranean University, Famagusta (North Cyprus), Turkey.

Longli Kang (L)

Key Laboratory forMolecular GeneticMechanisms and Intervention Research On High Altitude Disease of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, 712082, Shaanxi, China.
Key Laboratory of High Altitude Environment and Genes Related To Disease of Tibet Ministry of Education, School of Medicine, Xizang Minzu University, Xianyang, 712082, Shaanxi, China.

Hui Li (H)

MOE State Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.

Libing Yun (L)

Institute of Forensic Medicine, West China College of Preclinical and Forensic Medicine, Sichuan University, No.16. Section 3. RenMin Nan Road, Chengdu, 610041, Sichuan, China.

Peristera Paschou (P)

Department of Biological Sciences, Purdue University, West Lafayette, IN, USA.

Kelly A Meiklejohn (KA)

Department of Population Health and Pathobiology, North Carolina State University, 1060 William Moore Drive, Raleigh, NC, 27607, USA.

Eva Haigh (E)

Professor Emeritus, Department of Genetics, Yale University School of Medicine, P.O. Box 208005, New Haven, CT, 06520-8005, USA.

William C Speed (WC)

Professor Emeritus, Department of Genetics, Yale University School of Medicine, P.O. Box 208005, New Haven, CT, 06520-8005, USA.

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Allèles › The distinctive geographic patterns of common...
questionsmedicales.fr › Régions géographiques › Europe › The distinctive geographic patterns of common...
questionsmedicales.fr › Phénomènes biologiques › Pigmentation › Couleur des yeux › The distinctive geographic patterns of common...
questionsmedicales.fr › Phénomènes génétiques › Génotype › The distinctive geographic patterns of common...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The distinctive geographic patterns of common...
questionsmedicales.fr › Organes des sens › Oeil › Uvée › Iris › The distinctive geographic patterns of common...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › The distinctive geographic patterns of common...
questionsmedicales.fr › Phénomènes biologiques › Pigmentation › The distinctive geographic patterns of common...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › The distinctive geographic patterns of common...