Carcass,meat quality,and feather-down traits of 123 geese from an F_1 population of Wanxi White goose(male parent)and Sichuan White goose(female parent)were measured,and an additional 12 compound indices were construc...Carcass,meat quality,and feather-down traits of 123 geese from an F_1 population of Wanxi White goose(male parent)and Sichuan White goose(female parent)were measured,and an additional 12 compound indices were constructed from the single traits,using factor analysis.The coding region of melanocortin receptor-4(MC4R)gene was amplified by PCR and the products were digested with four restriction endonucleases Hinf I,Ear I,Pst I,and Pvu II to detect restriction fragment length polymorphism(RFLP)in the MC4R gene,to analyze its associations with the traits.The only RFLP was exposed by digesting with Hinf I indicating two genotypes,HH and Hh,with frequencies of allele H and h being 0.8902 and 0.1098 in the F_1 population.Significant effects of genotype HH were found on carcass weight,eviscerated weight(with giblet),liver weight,heart weight,stomach percentage,abdominal fat percentage,breast muscle drip water loss and down proportion and many of the compound indices,and all genotypic contribution percentages(CP,genotypic effect on the population mean)were between-5%and 5%;effects of genotype Hh with the MC4R gene mutation,were not significant.Effects of genotype Hh were significant on two of the compound indices related to fat deposition:the fat index(CP=3.314%,P<0.05)and fatty acid quality(CP=1.218%,P<0.05).展开更多
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 occurr...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, l197G→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.展开更多
There is strong relationship between melanocortin-1 receptor (MCIR) gene variants and human hair color and skin type. Based on a sequencing study of MC1R gene in 50 individuals from the Uygur, Tibetan, Wa and Dai ethn...There is strong relationship between melanocortin-1 receptor (MCIR) gene variants and human hair color and skin type. Based on a sequencing study of MC1R gene in 50 individuals from the Uygur, Tibetan, Wa and Dai ethnic populations, we discuss the occurrence of 7 mc1r variants consisting of 5 nonsynonymous sites (Val60Leu, Arg67Gln, Val92Met, Arg163Gln and Ala299Val) and 2 synonymous sites (C414T and A942G), among which C414T and Ala299Val were reported for the first time. Confirmation and analysis were the made of 122 individuals at three common point mutations (Val92Met, Arg163Gln, A942G) using PCR-SSCP. The frequency of Arg163Gln variant varies in the four ethnic populations, with percentage of 40%, 85.0%, 66. 2% and 72.7%, respectively, while those of Val92Met and A942G are roughly similar in these four populations. The different environments, migration and admixture of various ethnic groups in China might have impact on the observed frequency of Arg163Gln.展开更多
Specific primers for the MC1R gene of alpacas(GenBank EU1358800) were designed to amplify the cDNA sequence using RT-PCR to seek variation in the sequence and explore the relationship between the expression level of M...Specific primers for the MC1R gene of alpacas(GenBank EU1358800) were designed to amplify the cDNA sequence using RT-PCR to seek variation in the sequence and explore the relationship between the expression level of MC1R gene and alpaca coat color.The MC1R gene from white alpaca was cloned successfully and sequence analysis verified that the MC1R gene,encoding 317 amino acids,was 1081 bp in length.Compared with the existing sequence in GenBank,sequence identity was 99.9%and 7 mutations were found.Primers,designed from the sequence obtained,were used to assess the relative expression of MC1R in alpacas of different coat color using QRT-PCR and SPSS 13.0 software.Relative expression of MC1R in the skin of brown alpacas was 4.32 times higher than that in white alpacas after normalization with GAPDH(P【0.01),indicating that MC1R expression may be related to coat color of alpacas.展开更多
Background Infantile spasms is a severe epileptic encephalopathy, which is refractory to conventional antiepileptic drugs. Adrenocorticotropic hormone （ACTH） has been the major therapy for infantile spasms; however,...Background Infantile spasms is a severe epileptic encephalopathy, which is refractory to conventional antiepileptic drugs. Adrenocorticotropic hormone （ACTH） has been the major therapy for infantile spasms; however, ACTH therapy is ineffective for some patients. The variations in the receptor genes can contribute to antiepileptic drug resistance. This study was to elucidate the possible associations between the variations of the MC2R gene and ACTH responsiveness in patients with infantile spasms. Methods We screened for variations in the promoter and coding region of the MC2R gene in 91 Chinese patients with infantile spasms and 94 controls, using PCR and a direct sequencing method. The frequencies of the genotypes, alleles and reconstructed haplotypes were analyzed in the cases and controls. The association between ACTH responsiveness and genetic variations of the MC2R gene was also assessed. Results Four single nucleotide polymorphisms （SNPs） were identified in the MC2R promoter, one of which was a novel specimen at position-2 from the transcription start site ATT, -2T〉C. Three SNPs （rs1893220, rs2186944 and -2T〉C） showed a significant difference between the cases and controls （P 〈0.05 for all）. The frequency of the common TCCT haplotype carrying four-SNP major alleles was significantly lower in the cases （39%） than in the controls （60%） （P=-0.00003）. The homozygous carriers of the TCCT haplotype had a much lower relative risk than the non-carriers （RR=O.42, 95%C/ 0.26-0.70, P=-0.0001）. ACTH responsiveness was strongly associated with the TCCT haplotype （P=-0.000082）. Compared with non-carriers of the TCCT haplotype, the homozygous and heterozygous carriers were more responsive to ACTH therapy （P=0.0002; P=-0.0003, respectively）. Conclusions Our results indicated that the TCCT haplotype in the MC2R promoter is strongly associated with the responsiveness of the ACTH therapy performed on patients with infantile spasms. The polymorphisms of the MC2R promoter might be one important factor that influences the efficacy of ACTH therapy on infantile spasms.展开更多
Melanocortin receptor 1 (MC1R) gene, one of the important candidate genes for coat color trait, was used to analyze the single nucleotide polymorphism (SNP) in Chinese native pig breeds by PCR-single strand conformati...Melanocortin receptor 1 (MC1R) gene, one of the important candidate genes for coat color trait, was used to analyze the single nucleotide polymorphism (SNP) in Chinese native pig breeds by PCR-single strand conformation polymorphism (PCR-SSCP). The study had also taken 3 imported pig breeds as control. The results showed that the three mutations G284A, T309C and T364C found in Chinese native pigs were consistent to the mutation found in the European Large Black individuals. However, 68CC or C492T and G728A were only found in the imported individuals, which were obviously different from the Chinese native pigs. Accordingly, we presumed that the coat colors of Chinese native pigs belonged to dominant black color sys-tem, which was completely distinct to that of imported pig breeds. Thus it was implied that MC1R gene was not the principal factor affecting the coat color differences of Chinese native pig breeds, but could be used to trace the molecular evolution of pig breeds.展开更多
基金supported by a loth 5-year personwith-ability prject of Anhui province,Natural Science Foundation of Anhui Educational Institution(No.2006KJ/69B)Key Scientific Project of Anhui Provincial Department of Science and Technology(No.07020303055,08010302070)
文摘Carcass,meat quality,and feather-down traits of 123 geese from an F_1 population of Wanxi White goose(male parent)and Sichuan White goose(female parent)were measured,and an additional 12 compound indices were constructed from the single traits,using factor analysis.The coding region of melanocortin receptor-4(MC4R)gene was amplified by PCR and the products were digested with four restriction endonucleases Hinf I,Ear I,Pst I,and Pvu II to detect restriction fragment length polymorphism(RFLP)in the MC4R gene,to analyze its associations with the traits.The only RFLP was exposed by digesting with Hinf I indicating two genotypes,HH and Hh,with frequencies of allele H and h being 0.8902 and 0.1098 in the F_1 population.Significant effects of genotype HH were found on carcass weight,eviscerated weight(with giblet),liver weight,heart weight,stomach percentage,abdominal fat percentage,breast muscle drip water loss and down proportion and many of the compound indices,and all genotypic contribution percentages(CP,genotypic effect on the population mean)were between-5%and 5%;effects of genotype Hh with the MC4R gene mutation,were not significant.Effects of genotype Hh were significant on two of the compound indices related to fat deposition:the fat index(CP=3.314%,P<0.05)and fatty acid quality(CP=1.218%,P<0.05).
基金This work was supported by the National Natural Science Foundation of China (No. 30571326)President Foundation and De-velopment Foundation for Scientific Research of Agricultural University of Hebei.
文摘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, l197G→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.
文摘There is strong relationship between melanocortin-1 receptor (MCIR) gene variants and human hair color and skin type. Based on a sequencing study of MC1R gene in 50 individuals from the Uygur, Tibetan, Wa and Dai ethnic populations, we discuss the occurrence of 7 mc1r variants consisting of 5 nonsynonymous sites (Val60Leu, Arg67Gln, Val92Met, Arg163Gln and Ala299Val) and 2 synonymous sites (C414T and A942G), among which C414T and Ala299Val were reported for the first time. Confirmation and analysis were the made of 122 individuals at three common point mutations (Val92Met, Arg163Gln, A942G) using PCR-SSCP. The frequency of Arg163Gln variant varies in the four ethnic populations, with percentage of 40%, 85.0%, 66. 2% and 72.7%, respectively, while those of Val92Met and A942G are roughly similar in these four populations. The different environments, migration and admixture of various ethnic groups in China might have impact on the observed frequency of Arg163Gln.
基金supported by the National Natural Science Foundation of China(No.30501070)Shanxi Natural Science Foundation(No.20041099)President Foundation of Agricultural University of Hebei (BS2007023)
文摘Specific primers for the MC1R gene of alpacas(GenBank EU1358800) were designed to amplify the cDNA sequence using RT-PCR to seek variation in the sequence and explore the relationship between the expression level of MC1R gene and alpaca coat color.The MC1R gene from white alpaca was cloned successfully and sequence analysis verified that the MC1R gene,encoding 317 amino acids,was 1081 bp in length.Compared with the existing sequence in GenBank,sequence identity was 99.9%and 7 mutations were found.Primers,designed from the sequence obtained,were used to assess the relative expression of MC1R in alpacas of different coat color using QRT-PCR and SPSS 13.0 software.Relative expression of MC1R in the skin of brown alpacas was 4.32 times higher than that in white alpacas after normalization with GAPDH(P【0.01),indicating that MC1R expression may be related to coat color of alpacas.
基金This study was supported by the grants from the National Natural Science Foundation of China （No. 30770747）, the Beijing Municipal Natural Science Foundation （No. 7081002, No. 7042024） and the Capital Development Foundation of Beijing （No. 2003-2007）.
文摘Background Infantile spasms is a severe epileptic encephalopathy, which is refractory to conventional antiepileptic drugs. Adrenocorticotropic hormone （ACTH） has been the major therapy for infantile spasms; however, ACTH therapy is ineffective for some patients. The variations in the receptor genes can contribute to antiepileptic drug resistance. This study was to elucidate the possible associations between the variations of the MC2R gene and ACTH responsiveness in patients with infantile spasms. Methods We screened for variations in the promoter and coding region of the MC2R gene in 91 Chinese patients with infantile spasms and 94 controls, using PCR and a direct sequencing method. The frequencies of the genotypes, alleles and reconstructed haplotypes were analyzed in the cases and controls. The association between ACTH responsiveness and genetic variations of the MC2R gene was also assessed. Results Four single nucleotide polymorphisms （SNPs） were identified in the MC2R promoter, one of which was a novel specimen at position-2 from the transcription start site ATT, -2T〉C. Three SNPs （rs1893220, rs2186944 and -2T〉C） showed a significant difference between the cases and controls （P 〈0.05 for all）. The frequency of the common TCCT haplotype carrying four-SNP major alleles was significantly lower in the cases （39%） than in the controls （60%） （P=-0.00003）. The homozygous carriers of the TCCT haplotype had a much lower relative risk than the non-carriers （RR=O.42, 95%C/ 0.26-0.70, P=-0.0001）. ACTH responsiveness was strongly associated with the TCCT haplotype （P=-0.000082）. Compared with non-carriers of the TCCT haplotype, the homozygous and heterozygous carriers were more responsive to ACTH therapy （P=0.0002; P=-0.0003, respectively）. Conclusions Our results indicated that the TCCT haplotype in the MC2R promoter is strongly associated with the responsiveness of the ACTH therapy performed on patients with infantile spasms. The polymorphisms of the MC2R promoter might be one important factor that influences the efficacy of ACTH therapy on infantile spasms.
文摘Melanocortin receptor 1 (MC1R) gene, one of the important candidate genes for coat color trait, was used to analyze the single nucleotide polymorphism (SNP) in Chinese native pig breeds by PCR-single strand conformation polymorphism (PCR-SSCP). The study had also taken 3 imported pig breeds as control. The results showed that the three mutations G284A, T309C and T364C found in Chinese native pigs were consistent to the mutation found in the European Large Black individuals. However, 68CC or C492T and G728A were only found in the imported individuals, which were obviously different from the Chinese native pigs. Accordingly, we presumed that the coat colors of Chinese native pigs belonged to dominant black color sys-tem, which was completely distinct to that of imported pig breeds. Thus it was implied that MC1R gene was not the principal factor affecting the coat color differences of Chinese native pig breeds, but could be used to trace the molecular evolution of pig breeds.
