Article
Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population.
Pigment cell & melanoma research - 1 Nov 2015
Shahzad Mohsin, Sires Campos Julia, Tariq Nabeela, Herraiz Serrano Cecilia, Yousaf Rizwan, Jiménez-Cervantes Celia, Yousaf Sairah, Waryah Yar M, Dad Haseeb A, Blue Elizabeth M, Sobreira Nara, López-Giráldez Francesc, Kausar Tasleem, Ali Muhammad, Waryah Ali M, Riazuddin Saima, Shaikh Rehan S, García-Borrón José C, Ahmed Zubair M
Abstract excerpt
Melanocortin 1 receptor (MC1R), a Gs protein-coupled receptor of the melanocyte's plasma membrane, is a major determinant of skin pigmentation and phototype. Upon activation by α-melanocyte stimulating hormone, MC1R triggers the cAMP cascade to stimulate eumelanogenesis. We used whole-exome sequencing to identify causative alleles in Pakistani families with skin and hair hypopigmentation. Six MC1R mutations...
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