Indians typically have black hair, with grey appearing as a natural part of ageing. But red hair? The colour more commonly associated with Europeans has now been identified in a rare case in India, intriguing scientists at the CSIR-Centre for Cellular and Molecular Biology (CCMB) in Hyderabad.
Their study was prompted by a striking case of a five-year-old Indian girl with red hair on her scalp, eyebrows and body, while retaining dark eyes — an extremely rare phenotype. From this, researchers have provided fresh insight into the country’s complex genetic landscape by uncovering the role of the MC1R gene (melanocortin 1 receptor), a key regulator of skin and hair pigmentation.
MC1R gene determines the type of melanin produced in the body ‘eumelanin’, which gives dark brown or black colour, or pheomelanin, which results in red or yellow hues. Using genome sequencing, researchers identified a rare MC1R variant (c.872C>A) in the child.
“The child had inherited two copies of this mutation, one from each parent, indicating an autosomal recessive pattern. Her parents, who carried only one copy each, had typical dark hair. This ultra-rare variant disrupts the function of the MC1R protein, leading to red hair,” said senior scientist K. Thangaraj.
To understand how widespread such variations might be, the researchers analysed over 11,000 individuals from 91 populations across India. Drawing on data from the GenomeIndia Consortium and additional lab samples, the study identified 21 novel or ultra-rare MC1R variants, revealing an unexpected depth of genetic diversity. Lab experiments and zebrafish models showed that some of these variants impair gene function, affecting pigmentation patterns.
The team including Deepak K. Kashyap, Srashti J. Agrawal, Meenakshisundaram Karthikeyan, Disha Biradar, Eerapagula Ramesh, Krithika Subramanian, Lomous Kumar, UrgyanChorol, Audditiya Bandopadhyay, A. Vasanthakumar, Nagarjuna Pasupuleti, Tamilselvan Jayavelu, Ajay K. Mahato, Periyasamy Govindaraj, Gyaneshwer Chaubey, Bratati Kahali and Vivek T. Natarajan, also examined another variant, c.-226A>T (rs3212363), which is linked to lighter skin pigmentation in certain populations.
Its distribution varies sharply, found at high levels in the Bodh population of Ladakh, but is much lower among Dravidian tribal groups in South India. Communities in northern and northeastern India, which typically have lighter skin tones, show a higher frequency of this variant. However, scientists emphasise that skin colour is influenced by multiple genes, including SLC24A5 and SLC45A2, and cannot be attributed to MC1R alone.
India has a wide range of skin tones, from light to dark. Southern populations, particularly Dravidian-speaking groups, generally have darker complexions. In contrast, northern populations, largely Indo-European speakers, tend to have lighter skin, reflecting skin colour genetic links to Central Asia, the Middle East and Europe. People in the Himalayan and northeastern regions, including Tibeto-Burman communities, also show relatively lighter skin, influenced by skin colour mutation, which is widespread in East Asian populations.
“India’s vast range of skin tones reflects its complex genetic ancestry, shaped by migration, admixture, environment and social practices such as endogamy or marriages within the caste,” said Mr. Thangaraj. The findings also have clinical relevance, as variants in the MC1R gene are linked to a higher risk of skin cancers, including melanoma.
Leave a Reply