A team of Indian scientists has identified an ultra-rare genetic variant responsible for the exceptionally uncommon occurrence of red hair in Indians, while uncovering 21 previously unknown variants of the same gene across diverse populations in the country.
The findings, published in the July issue of HGG Advances, are based on an extensive study of the Melanocortin 1 Receptor (MC1R) gene, a key protein that regulates skin and hair pigmentation in mammals. Researchers said the study offers fresh insights into India's genetic diversity and the biological mechanisms underlying pigmentation.
The research began after scientists investigated a five-year-old girl from a village in southern India who had naturally red hair on her scalp, eyebrows and body despite having dark brown-black eyes. Genetic analysis revealed that she carried an ultra-rare pathogenic variant of the MC1R gene, designated c.872C>A, which the researchers identified as the cause of the red hair colour (RHC) phenotype. The girl's sister, however, had black hair, highlighting the inherited but rare nature of the mutation.
"We analysed MC1R and identified an ultra-rare pathogenic variant... responsible for the RHC phenotype in an Indian child," the researchers said.
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To understand how widespread such variants are, the team screened the complete coding region of the MC1R gene in 11,021 individuals representing 91 distinct Indian populations. The analysis identified 21 previously unreported variants, including nine novel and 12 ultra-rare mutations.
Although red hair occurs in about 1-2 per cent of the global population, it is extremely rare in India. The researchers noted that India's diverse ethnic groups display a broad range of skin pigmentation, making the findings significant for understanding human genetic variation.
The study also found that one of the newly identified variants is significantly associated with lighter skin pigmentation among the Bodh community of Ladakh.
Researchers from the Centre for Cellular and Molecular Biology, Tata Institute for Genetics and Society, Institute of Genomics and Integrative Biology, Indian Institute of Science, Centre for DNA Fingerprinting and Diagnostics, Banaras Hindu University, NIMHANS, Manipal Academy of Higher Education, Anna University, SRM Institute of Science and Technology and several other institutions collaborated on the project.
The researchers said the findings improve understanding of the genetic basis of pigmentation in India and could contribute to future studies in human genetics, evolutionary biology and precision medicine.
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