Melanocortin-1 receptor (MC1R) plays a major role in pigmentation in many species.To investigate if the MC1R gene is associated with coat color in water buffalo,the coding region of MC1R gene of 216 buffalo samples was sequenced,which included 49 black river buffalo (Murrah and Nili-Ravi),136 swamp buffalo (Dehong,Diandongnan,Dechang,Guizhou,and Xilin) with white and gray body,and 31 hybrid offspring of river buffalo Nili-Ravi (or Murrah) and swamp buffalo.Among the three variation sites found,SNP684 was synonymous,while SNP310 and SNP384 were nonsynonymous,leading to p.S104G and p.I128M changes,respectively.Only Individuals carrying homozygote EBR/EBR were black.The genotype and phenotype analysis of the hybrid offspring of black river buffalo and gray swamp buffalo further revealed that the river buffalo type allele EBR or the allele carrying the amino acid p.104S was important for the full function of MC1R.The in silico functional analysis showed that the amino acid substitutions p.G104S and p.M128I had significant impact on the function of MC1R.Above results indicate that the allele EBR or the allele carrying the amino acid p.104S was associated with the black coat color in buffalo.
MIAO YongWang1,2,WU GuiSheng3,WANG Lei2,LI DaLin4,TANG ShouKun5,LIANG JianPing2,MAO HuaMing2,LUO HuaiRong3 & ZHANG YaPing1,6 1 Laboratory for Conservation and Utilization of Bio-resource,Yunnan University,Kunming 650091,China
Extant genes can be modified, or 'tinkered with', to provide new roles or new characteristics of these genes. At the genetic level, this often involves gene duplication and specialization of the resulting genes into particular functions. We investigate how ligand-receptor partnerships evolve after gene duplication. While significant work has been conducted in this area, the examination of additional models should help us better understand the proposed models and potentially reveal novel evolutionary patterns and dynamics. We use bioinformatics, comparative genomics and phylogenetic analyses to show that preproghrelin and prepromotilin descended from a common ancestor and that a gene duplication generated these two genes shortly after the divergence of amphibians and amniotes. The evolutionary history of the receptor family differs from that of their cognate ligands. GPR39 diverges first, and an ancestral receptor gives rise to receptors classified as fish-specific clade A, GHSR and MLNR by successive gene duplications occurring before the divergence of tetrapods and ray-finned fish. The ghrelin/GHSR system is maintained and functionally conserved from fish to mammals. Motilin-MLNR specificity must have arisen by ligand-receptor coevolution after the MLN hormone gene diverged from the GHRL gene in the amniote lineage. Conserved molecular machinery can give rise to new neuroendocrine response mechanisms by the co-option of duplicated genes. Gene duplication is both parsimonious and creative in producing elements for evolutionary tinkering and plays a major role in gene co-option, thus aiding the evolution of greater biological complexity.
Mitochondrial disease currently received an increasing concern. However, the case-control design commonly adopted in this field is vulnerable to genetic background, population stratification and poor data quality. Although the phylogenetic analysis could help solve part of these problems, it has not received adequate attention. This paper is a review of this method as well as its application in mito- chondrial disease study.
WANG ChengYe1,2,3, KONG QingPeng1,2 & ZHANG YaPing1,2? 1 State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China
