Rare Gene Variant Found in Indian Child with Red Hair
A group of Indian scientists has discovered an ultra-rare pathogenic variant in the Melanocortin 1 Receptor (MC1R) gene responsible for red hair color (RHC) in a five-year-old girl from a village in southern India. The study, published in the July issue of HGG Advances, also identified 21 novel variants of the same gene across 91 distinct population sets nationwide.
Study Details and Findings
The girl exhibited red hair on her scalp, body, and eyebrows, while her eyes remained dark brown-black. Her sister had black hair, indicating the variant was inherited. The researchers analyzed the complete coding region of MC1R in 11,021 individuals representing 91 distinct Indian populations. They found 9 novel and 12 ultra-rare variants, including the c.872C>A variant linked to RHC.
“We analysed MC1R and identified an ultra-rare pathogenic variant, christened c.872C>A, that is responsible for the RHC phenotype in an Indian child,” the researchers said.
Global and Indian Context of Red Hair
Red hair occurs in 1–2 percent of the world population, but its frequency varies greatly among ethnicities. In India, the RHC phenotype is extremely rare. The study noted India’s diverse complexion tones, from pale to dark brown, across various ethnic populations.
“Although RHC is found in 1–2 percent of the world population, its frequency varies greatly among populations of different ethnicities. However, in India, the RHC phenotype is extremely rare,” the researchers observed.
Collaborative Research Effort
Experts from multiple institutions participated, including the Centre for Cellular and Molecular Biology (Hyderabad), Tata Institute for Genetics and Society (Bengaluru), Institute of Genomics and Integrative Biology (New Delhi), Academy of Scientific and Innovative Research (Ghaziabad), Anna University (Chennai), Centre for DNA Fingerprinting and Diagnostics (Hyderabad), Indian Institute of Science (Bengaluru), Manipal Academy of Higher Education (Manipal), Banaras Hindu University (Varanasi), National Institute of Mental Health and Neurosciences (Bengaluru), and SRM Institute of Science and Technology (Kattankulathur).
Implications for Skin Pigmentation
The study also found that the distribution of some variants differed significantly among Indian populations. One variant was significantly associated with lighter skin pigmentation in the Bodh population of Ladakh. The research highlights the diversity of skin pigmentation in India, with Dravidian speakers from the south generally having darker complexions, while Indo-European speakers from the north and Tibeto-Burman speakers from Himalayan and northeastern states have lighter skin.
