- A red-haired girl in India had a rare mutation in the MC1R gene (p.Ala291Asp), different from European variants, inherited from both parents who have black hair.
- Researchers identified 21 novel or rare MC1R variants in India, with nine exclusive to Indians; two (p.Ala57Thr and p.Ile40Thr) are linked to skin cancer risk and other traits.
- A non-coding variant (rs3212363) associated with lighter skin was confirmed in high frequency among the Bodh population of Ladakh, showing varying frequencies across India.
- The study reveals South Asia's complex genetic architecture for pigmentation, influenced by migration and adaptation, with MC1R now a key gene alongside others like SLC24A5.
- Findings challenge assumptions about adaptation to UV radiation and highlight independent genetic evolution in India, offering insights into rare diseases and global biological diversity.