Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population.

Autor:	Ang KC; Department of Pathology, Penn State College of Medicine, Hershey, United States.; Jake Gittlen Laboratories for Cancer Research, Penn State College of Medicine, Hershey, United States., Canfield VA; Department of Pathology, Penn State College of Medicine, Hershey, United States.; Jake Gittlen Laboratories for Cancer Research, Penn State College of Medicine, Hershey, United States., Foster TC; Department of Pathology, Penn State College of Medicine, Hershey, United States.; Jake Gittlen Laboratories for Cancer Research, Penn State College of Medicine, Hershey, United States., Harbaugh TD; Department of Pathology, Penn State College of Medicine, Hershey, United States.; Jake Gittlen Laboratories for Cancer Research, Penn State College of Medicine, Hershey, United States., Early KA; Department of Pathology, Penn State College of Medicine, Hershey, United States.; Jake Gittlen Laboratories for Cancer Research, Penn State College of Medicine, Hershey, United States., Harter RL; Department of Pathology, Penn State College of Medicine, Hershey, United States., Reid KP; Department of Pathology, Penn State College of Medicine, Hershey, United States.; Jake Gittlen Laboratories for Cancer Research, Penn State College of Medicine, Hershey, United States., Leong SL; Department of Family & Community Medicine, Penn State College of Medicine, Hershey, United States., Kawasawa Y; Department of Biochemistry and Molecular Biology, Penn State College of Medicine, Hershey, United States.; Department of Pharmacology, Penn State College of Medicine, Hershey, United States.; Institute of Personalized Medicine, Penn State College of Medicine, Hershey, United States., Liu D; Department of Biochemistry and Molecular Biology, Penn State College of Medicine, Hershey, United States.; Department of Public Health Sciences, Penn State College of Medicine, Hershey, United States., Hawley JW; Salybia Mission Project, Saint David Parish, Dominica., Cheng KC; Department of Pathology, Penn State College of Medicine, Hershey, United States.; Jake Gittlen Laboratories for Cancer Research, Penn State College of Medicine, Hershey, United States.; Department of Biochemistry and Molecular Biology, Penn State College of Medicine, Hershey, United States.; Department of Pharmacology, Penn State College of Medicine, Hershey, United States.
Jazyk:	angličtina
Zdroj:	ELife [Elife] 2023 Jun 09; Vol. 12. Date of Electronic Publication: 2023 Jun 09.
DOI:	10.7554/eLife.77514
Abstrakt:	Our interest in the genetic basis of skin color variation between populations led us to seek a Native American population with genetically African admixture but low frequency of European light skin alleles. Analysis of 458 genomes from individuals residing in the Kalinago Territory of the Commonwealth of Dominica showed approximately 55% Native American, 32% African, and 12% European genetic ancestry, the highest Native American genetic ancestry among Caribbean populations to date. Skin pigmentation ranged from 20 to 80 melanin units, averaging 46. Three albino individuals were determined to be homozygous for a causative multi-nucleotide polymorphism OCA2 NW273KV contained within a haplotype of African origin; its allele frequency was 0.03 and single allele effect size was -8 melanin units. Derived allele frequencies of SLC24A5 A111T and SLC45A2 L374F were 0.14 and 0.06, with single allele effect sizes of -6 and -4, respectively. Native American genetic ancestry by itself reduced pigmentation by more than 20 melanin units (range 24-29). The responsible hypopigmenting genetic variants remain to be identified, since none of the published polymorphisms predicted in prior literature to affect skin color in Native Americans caused detectable hypopigmentation in the Kalinago. Competing Interests: KA, VC, TF, TH, KE, RH, KR, SL, YK, DL, JH, KC No competing interests declared (© 2023, Ang et al.)
Databáze:	MEDLINE
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