Article
Novel MC1R variants cause red hair and lighter skin color.
HGG advances - 9 Jul 2026
Kashyap Deepak K, Agrawal Srashti J, Karthikeyan Meenakshisundaram, Biradar Disha, Ramesh Eerapagula, Subramanian Krithika, Kumar Lomous, Chorol Urgyan, Bandopadhyay Audditiya, Vasanthakumar A, Pasupuleti Nagarjuna, Jayavelu Tamilselvan, Mahato Ajay K, Govindaraj Periyasamy, Chaubey Gyaneshwer, Kahali Bratati, Natarajan Vivek T, Thangaraj Kumarasamy
Abstract excerpt
The melanocortin 1 receptor (MC1R) is one of the fundamental proteins regulating skin and hair color in mammals. In India, the red hair color (RHC) phenotype is extremely rare. We analyzed MC1R and identified an ultra-rare pathogenic variant, c.872C>A (p.Ala291Asp), that is responsible for the RHC phenotype in an Indian child. Further, we screened the complete coding region of MC1R in a total of 11,021...
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