MC1R gene variants involvement in human OCA phenotype

Author:

Saleha Shamim1,Khan Taj Ali1,Zafar Shaista2

Affiliation:

1. 1Faculty of Biological Sciences, Kohat University of Science and Technology (KUST), Kohat 26000, Khyber Paktunkhwa, Pakistan

2. 2Pakistan Institute of Medical Sciences (PIMS), Islamabad 44000, Pakistan

Abstract

AbstractOculocutaneous 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.

Publisher

Walter de Gruyter GmbH

Subject

General Agricultural and Biological Sciences,General Immunology and Microbiology,General Biochemistry, Genetics and Molecular Biology,General Neuroscience

Reference58 articles.

1. Oculocutaneous albinism Oculocutaneous albinismOrphanet;Gronskov;Orphanet J Rare Dis J,2007

2. Mutations in the MATP gene in five Ger - man patients affected by oculocutaneous albinism type Mutations in the MATP gene in five Ger - man patients affected by oculocutaneous albinism type Hum;Rundshagen;Hum Mutat Mutat,2004

3. Report of a novel OCA gene mutation and an investigation of OCA variants on melanoma risk in a familial melanoma pedigree et Report of a novel OCA gene mutation and an investigation of OCA variants on melanoma risk in a familial melanoma pedigreeJ;Hawkes;Dermatol Sci Dermatol Sci,2013

4. Identification of novel functional variants of the melanocortin receptor gene originated from Asians Identification of novel functional variants of the melanocortin receptor gene originated from AsiansHum;Nakayama;Hum Genet Genet,2006

5. The dihydroxyindole - - carboxylic acid oxidase activity of human tyrosinase The dihydroxyindole - - carboxylic acid oxidase activity of human tyrosinaseBiochem;Olivares;Biochem J,2001

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3