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Article ; Online: MC1R diversity and its role in skin pigmentation variation in West Maharashtra, India.

Jonnalagadda, Manjari / Bharti, Neeraj / Kasibhatla, Sunitha Manjari / Wagh, Mayur A / Joshi, Rajendra / Ozarkar, Shantanu / Ashma, Richa

American journal of human biology : the official journal of the Human Biology Council

2022  Volume 34, Issue 7, Page(s) e23734

Abstract: Objectives: MC1R polymorphisms have been reported to be under a selective constraint in populations inhabiting high UVR regions such as Africans; however, these patterns are not consistent. Here we analyze the MC1R gene in West Maharashtra, India to see ...

Abstract Objectives: MC1R polymorphisms have been reported to be under a selective constraint in populations inhabiting high UVR regions such as Africans; however, these patterns are not consistent. Here we analyze the MC1R gene in West Maharashtra, India to see if sequence diversity corresponds to their diverse pigmentary profiles and if MC1R is constrained in dark skinned tribal as compared to lighter skinned caste populations.
Methods: A 2648 bp region of this gene was sequenced in 102 individuals and the data was compared for π, ϴ diversity indices. Tajima's D was assessed for signatures of purifying selection and MC1R variants were associated with MI measures using the additive, dominant, and recessive models. Pairwise F
Results: MC1R diversity was not uniquely patterned among castes and tribes. Non-synonymous variants rs2228479A, rs1805007_T, and rs885479_A showed low variability in these populations. Selection tests did not indicate any constraint on MC1R and pairwise F
Conclusions: We do not find evidence of a selective constraint on MC1R. The presence of a large number of unique haplotypes and low F
MeSH term(s) Haplotypes ; Humans ; India ; Polymorphism, Genetic ; Receptor, Melanocortin, Type 1/genetics ; Skin Pigmentation/genetics
Chemical Substances MC1R protein, human ; Receptor, Melanocortin, Type 1
Language English
Publishing date 2022-02-21
Publishing country United States
Document type Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID 1025339-7
ISSN 1520-6300 ; 1042-0533
ISSN (online) 1520-6300
ISSN 1042-0533
DOI 10.1002/ajhb.23734
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Zs.A 2567: Show issues Location:
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