ArticleHGG advances2026
Novel MC1R variants cause red hair and lighter skin color.
Article in HGG advances, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- The genetic architecture of human skin pigmentation: evolution and adaptation across global populations.Frontiers in genetics · 2026Review
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Authors and funding
18 authors.
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Abstract
The melanocortin 1 receptor (MC1R) is one of the fundamental proteins regulating skin and hair color in mammals. In India, the red hair color (RHC) phenotype is extremely rare. We analyzed MC1R and identified an ultra-rare pathogenic variant, c.872C>A (p.Ala291Asp), that is responsible for the RHC phenotype in an Indian child. Further, we screened the complete coding region of MC1R in a total of 11,021 individuals, representing 91 distinct Indian populations across India, and found a total of 21 novel or ultra-rare variants. In silico, in vitro, and zebrafish-based functional analysis showed that c.742G>T (p.Gly248Cys) and p.Ala291Asp variants lead to loss-of-function (LoF) effects. The distribution of some of these variants differed significantly among Indian populations. One of them is MC1R c.-226A>T (rs3212363), which is significantly associated with lighter skin pigmentation in the Bodh population inhabited in Ladakh. On average, TT homozygotes were 8.46 melanin units lighter compared with AA homozygotes (95% confidence interval [CI]: 3.211 to 13.72; adjusted p = 0.0005). Our study identifies and functionally validates ultra-rare MC1R variants as potential causes of RHC phenotype in Indians.
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