MC1R gene variants involvement in human OCA phenotype

• Main Authors: Saleha Shamim, Khan Taj Ali, Zafar Shaista
• Format: Article
• Language: English
• Published: De Gruyter 2016-01-01
• Series: Open Life Sciences
• Subjects: oculocutaneous albinism; mc1r variants; oca phenotype; hpopigmentation; melanin synthesis
• Online Access: https://doi.org/10.1515/biol-2016-0020

Oculocutaneous albinism (OCA) is a genetic disorder of melanin synthesis that results in hypopigmentation in hair, skin and eyes. OCA has been reported in individuals from all ethnic backgrounds but it is more common among those with Europeans ancestry. OCA is heterogeneous group of disorders and seven types of OCA are caused by mutations in TYR (OCA1), OCA2 (OCA2), TYRP1 (OCA3), SLC45A2 (OCA4), SLC24A5 (OCA6) and C10oRF11 (OCA7) genes. However, MC1R gene variants have been reported that modify OCA2 phenotype but the knowledge about the function ofMC1R gene in melanogenesis, and genotype-phenotype association, in case of OCA, is limited. In this review article we present a comprehensive description of classification of OCA, role of MSH-R in melanin synthesis, the sequence variations in MC1R and their association with OCA. This review will enhance our understanding of MC1R gene variants involved in human OCA2 phenotype.