Chinese white Rongchang pig does not have the dominant white allele of KIT but has the dominant black allele of MC1R.

The mast/stem cell growth factor receptor (KIT) and melanocortin receptor 1 (MC1R) mutations are responsible for coat color phenotypes in domestic pigs. Rongchang is a Chinese indigenous pig breed with a white coat color phenotype. To investigate the genetic variability of the KIT and MC1R genes and their possible association with the coat color phenotype in this breed, a gene duplication and splice mutation of KIT were diagnosed in a sample of 93 unrelated Rongchang animals. The results show that Rongchang pigs have a single copy of KIT without the splice mutation at the first nucleotide of intron 17, indicating that the dominant white I allele of KIT is not responsible for their white phenotype. The KIT mRNA and MC1R coding sequences were also determined in this breed. Three putative amino acid substitutions were found in the KIT gene between Rongchang and Western white pigs, their association with the Rongchang white phenotype remains unknown. For the MC1R gene, Rongchang pigs were demonstrated to have the same dominant black allele (E(D1)) as other Chinese breeds, supporting the previous conclusion that Chinese and Western pigs have independent domestication origin. We also clarified that the Rongchang white phenotype was recessive to nonwhite color phenotypes. Our results provide a good starting point for the identification of the mutations underlying the white coat color in Rongchang pigs.

Lai F ，Ren J ，Ai H ，Ding N ，Ma J ，Zeng D ，Chen C ，Guo Y ，Huang L ... -  《JOURNAL OF HEREDITY》

Genetic variation within coat color genes of MC1R and ASIP in Chinese brownish red Tibetan pigs.

Melanocortin receptor 1 (MC1R) and agouti signaling protein (ASIP) are two major genes affecting coat color phenotypes in mammals, and inactivation mutations in the MC1R gene are responsible for red coat color in European pig breeds. Conversely, the gain-of-function ASIP mutations block MC1R signaling and lead to the production of red pheomelanin. Chinese Tibetan pigs have three types of coat color phenotypes, including brownish red, solid black and black with patches of brownish red and white. Herein, we investigated variations of the MC1R and ASIP genes in Tibetan pigs. The results showed that the brownish red Tibet pig had the dominant black MC1R allele (E(D1)). No loss-of-function mutation in MC1R responsible for red coat color in European breeds was observed in this breed. No causal mutation for the red coat color phenotype was found in the coding sequence of the ASIP gene. A novel missense mutation c.157G > A was firstly identified in exon 2 of ASIP, which was further genotyped in 285 pigs from five Chinese breeds and three Western breeds having different coat color phenotypes. Nearly all pigs were GG homozygotes. In conclusion, no functional variant responsible for brownish red coloration was found in the coding region of MC1R and ASIP in Tibetan pigs.

Mao H ，Ren J ，Ding N ，Xiao S ，Huang L ... -  《-》

Genetic analysis of the KIT and MC1R genes in Chinese indigenous pigs with belt-like coat color phenotypes.

Xu GL ，Ren J ，Ding NS ，Ai HS ，Guo YM ，Chen CY ，Huang LS ... -  《ANIMAL GENETICS》

[Effect study of white locus (I) on coat color inheritance in Chinese native pig breeds].

The classical White (I) locus is one of the important pig coat color hereditable loci,which is homologous to KIT gene. In this study,PCR-RFLP and PCR-SSCP analysis were commanded on the Intron 17 and 18 nucleotide sequences of KIT gene. The tested results showed that the substitution mutation (G-->A) of Intron 17 was found in white pigs, including Wuzhishan pigs (white), Landrace and Large White,and its genotype (AB) frequency was 1.1 and 0.8 respectively. The genotype frequency was uniformly 0 in the other native pig breeds. Similarly,the deleted mutation (AGTT) of Intron 18 was also found in the same white pigs,its genotype (,AA) frequency was 1.1 and 0.93 separately,while in the other native pig breeds was 0. Accordingly it was considered that KIT gene was an important factor regulating the white coat color genotype, and the classical I locus (KIT gene) was epistatic to the other genetic coat color loci. On the other hand,although the native pig breed Rongchang Pig is similar to Landrace and Large White in phenotype (white coat color), the mutation status found in them was absolutely distinct. So it is presumed that the coat color genetic system of Chinese native pig breeds was different from that of imported breeds.

Shi KR ，Wang AG ，Li N ，Deng XM ... -  《-》

A large duplication associated with dominant white color in pigs originated by homologous recombination between LINE elements flanking KIT.

The Dominant White (I/KIT) locus is one of the major coat color loci in the pig. Previous studies showed that the Dominant White (I) and Patch (IP) alleles are both associated with a duplication including the entire KIT coding sequence. We have now constructed a BAC contig spanning the three closely linked tyrosine kinase receptor genes PDGFRA-KIT-KDR. The size of the duplication was estimated at about 450 kb and includes KIT, but not PDGFRA and KDR. Sequence analysis revealed that the duplication arose by unequal homologous recombination between two LINE elements flanking KIT. The same unique duplication breakpoint was identified in animals carrying the I and IP alleles across breeds, implying that Dominant White and Patch alleles are descendants of a single duplication event. An unexpected finding was that Piétrain pigs carry the KIT duplication, since this breed was previously assumed to be wild type at this locus. Comparative sequence analysis indicated that the distinct phenotypic effect of the duplication occurs because the duplicated copy lacks some regulatory elements located more than 150 kb upstream of KIT exon 1 and necessary for normal KIT expression.

Giuffra E ，Törnsten A ，Marklund S ，Bongcam-Rudloff E ，Chardon P ，Kijas JM ，Anderson SI ，Archibald AL ，Andersson L ... -  《MAMMALIAN GENOME》