Melanocortin Receptor 1 (MC1R) Mutations and Coat Color in Pigs

Author:

Kijas J M H1,Wales R2,Törnsten A1,Chardon P3,Moller M1,Andersson L1

Affiliation:

1. Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, S-751 24, Uppsala, Sweden

2. Molecular Biology Group, Pig Improvement Company, Cambridge CB1 2JN, United Kingdom

3. Laboratoire Mixte Institut National de la Recherche Agronomique-Commissariat à la Énergie Atomique de Radiobiologie Appliquée, Jouy en Josas 78352, France

Abstract

Abstract The melanocortin receptor 1 (MC1R) plays a central role in regulation of eumelanin (black/brown) and phaeomelanin (red/yellow) synthesis within the mammalian melanocyte and is encoded by the classical Extension (E) coat color locus. Sequence analysis of MC1R from seven porcine breeds revealed a total of four allelic variants corresponding to five different E alleles. The European wild boar possessed a unique MC1R allele that we believe is required for the expression of a wild-type coat color. Two different MC1R alleles were associated with the dominant black color in pigs. MC1R*2 was found in European Large Black and Chinese Meishan pigs and exhibited two missense mutations compared with the wild-type sequence. Comparative data strongly suggest that one of these, L99P, may form a constitutively active receptor. MC1R*3 was associated with the black color in the Hampshire breed and involved a single missense mutation D121N. This same MC1R variant was also associated with EP, which results in black spots on a white or red background. Two different missense mutations were identified in recessive red (e/e) animals. One of these, A240T, occurs at a highly conserved position, making it a strong candidate for disruption of receptor function.

Publisher

Oxford University Press (OUP)

Subject

Genetics

Reference24 articles.

1. Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair;Box;Hum. Mol. Genet.,1997

2. FISH on metaphase and interphase chromosomes demonstrates the physical order of the genes for GPI, CRC and LIPE in pigs;Chowdhary;Cytogenet. Cell Genet.,1995

3. Standard karyotype of the domestic pig;Committee for the Standardized Karyotype of the Domestic Pig;Hereditas,1988

4. Homologous pigmentation mutations in human, mouse and other model organisms;Jackson;Hum. Mol. Genet.,1997

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