CCMB Hyderabad Identifies Rare MC1R Variant Behind Red Hair in Indian Girl

Scientists at the CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad, have identified a rare genetic variant of the MC1R (melanocortin 1 receptor) gene that gives an Indian girl naturally red hair — a phenotype usually associated with European populations. The discovery offers fresh insight into the genetic diversity of South Asian populations.

The study was prompted by a striking case of a five-year-old Indian girl with red hair on her scalp, eyebrows and body, but with dark eyes — an extremely rare combination. Researchers led by senior scientist K. Thangaraj used genome sequencing to identify a rare MC1R variant (c.872C>A) in the child. Both parents carried one copy of the variant each and had typical dark hair, while the child inherited two copies, producing the red-hair phenotype through an autosomal recessive pattern.

The MC1R gene controls the type of melanin the body produces. Two main types exist — eumelanin, which gives dark brown or black colour, and pheomelanin, which produces red or yellow hues. The c.872C>A variant disrupts the MC1R protein's function and shifts melanin production toward pheomelanin, resulting in red pigmentation.

To understand how widespread similar variants might be, the CCMB team analysed over 11,000 individuals from 91 populations across India. The frequency of red-hair-causing MC1R variants in India is extremely low compared with European populations, but the study identified several other novel MC1R variants in different communities that could subtly influence skin and hair colour. The findings strengthen India's genome catalogue and have downstream applications in dermatology, forensic identification and the study of skin-cancer risk.