title: Variations of melanocortin receptor 1 (MC1R) gene in three pig breeds.
abstract: Variations of Melanocortin Receptor 1 (MC1R) were investigated using sequencing, PCR-RFLP and PCR-SSCP, in three pig breeds, Landrace, Yorkshire, and Duroc. Five polymorphic sites were found, in which 668G-->C occurred within 5' UTR, nt894insCC in coding region resulting in a premature stop at codon 56, and 1318C-->T, 1554G-->A, 1197G-->A in coding region resulting in Ala164Val, Ala243Thr, and Asp124Asn respectively. All individuals in Landrace and Yorkshire present homozygous 668GG, 1197AA, 1318CC, and 1554GG, and have CC insertions at the 894 site, whereas the individuals in Duroc present a contrast homozygous 668CC, 1197GG, 1318TT, and 1554AA, and have no CC insertions at the corresponding site. No heterozygote has been found at these mutation sites. Presumably, 668G-->C, 1318C-->T, and 1554G-->A may be associated with the recessive red color in the Duroc breed, and nt894insCC making 1197G-->A nonsense may be associated with the white color in Landrace and Yorkshire breeds.
authors: Department of Animal Science, College of Animal Science and Technology, Agricultural University of Hebei, Baoding 071000, China.
authors: Guiling
authors: G
authors: Dun
authors: Xianglong
authors: X
authors: Li
authors: Hongzhan
authors: H
authors: Cao
authors: Rongyan
authors: R
authors: Zhou
authors: Lanhui
authors: L
authors: Li
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics; D000818:Animals; D004252:DNA Mutational Analysis; D014644:Genetic Variation / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D010858:Pigmentation / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D013552:Swine / Q000033:anatomy & histology / Q000145:classification* / Q000235:genetics*
chemical_list: D020121:5' Untranslated Regions; D044102:Receptor, Melanocortin, Type 1