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
Objective: To detect the expression and the genomic sequence of Doc-1R gene in mice. Methods: The gene specific primers were designed and synthesized according to the cDNA sequence of Doc-1R gene. The sequence of Doc-...Objective: To detect the expression and the genomic sequence of Doc-1R gene in mice. Methods: The gene specific primers were designed and synthesized according to the cDNA sequence of Doc-1R gene. The sequence of Doc-1R gene was cloned by nested PCR. The expression of Doc-1R gene was examined by RT-PCR in thirteen kinds of tissues of mice. Results: The mouse Doc-1R gene has been obtained by two times genomic walking, which spans 2787 bp and contains four exons and three introns. All of the splice donor/acceptor site sequences are in accordance with the consensus 揋T-AG?rule. There was expression of Doc-1R gene in the thirteen tissues. Conclusion: The mouse Doc-1R gene was cloned successfully. The expression pattern suggests that Doc-1R gene is a housekeeping gene, which is important to keep the function of tissues and organs.展开更多
Vitamin D, a fat-soluble vitamin and endocrine horm one, and it impacts various bone and extra-bone health, such as osteoporosis, diabetes, and cancer. The main circulating form of vitamin D is 25-hydroxyvitamin D [25...Vitamin D, a fat-soluble vitamin and endocrine horm one, and it impacts various bone and extra-bone health, such as osteoporosis, diabetes, and cancer. The main circulating form of vitamin D is 25-hydroxyvitamin D [25(OH)D] and it is a useful clinical biomarker of vitamin D status. The Institute of Medicine (IOM) defines as vitamin D deficiency (VDD) when serum 25(OH)D concentration is less than 20 ng/mL⑴.Worldwide, VDD is recognized as a severe public health problem. In 2007, Holick estimated that globally over one billion people suffered from VDD or vitamin D insufficiency (VDI). In China, it has bee n reported that the prevale nee of VDD ranged from 38.8% to 91.2% in different regions.展开更多
PDRG1 is a small oncogenic protein of 133 residues. In normal human tissues, the p53 and DNA damageregulated gene 1(PDRG1) gene exhibits maximal expression in the testis and minimal levels in the liver. Increased expr...PDRG1 is a small oncogenic protein of 133 residues. In normal human tissues, the p53 and DNA damageregulated gene 1(PDRG1) gene exhibits maximal expression in the testis and minimal levels in the liver. Increased expression has been detected in several tumor cells and in response to genotoxic stress. High-throughput studies identified the PDRG1 protein in a variety of macromolecular complexes involved in processes that are altered in cancer cells. For example, this oncogene has been found as part of the RNA polymerase Ⅱ complex, the splicing machinery and nutrient sensing machinery, although its role in these complexes remains unclear. More recently, the PDRG1 protein was found as an interaction target for the catalytic subunits of methionine adenosyltransferases. These enzymes synthesize S-adenosylmethionine, the methyl donor for, among others, epigenetic methylations that occur on the DNA and histones. In fact, downregulation of S-adenosylmethionine synthesis is the first functional effect directly ascribed to PDRG1. The existence of global DNA hypomethylation, together with increased PDRG1 expression, in many tumor cells highlights the importance of this interaction as one of the putative underlying causes for cell transformation. Here, we will review the accumulated knowledge on this oncogene, emphasizing the numerous aspects that remain to be explored.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： Studies have shown that adenosine triphosphate-binding cassette transporter 1 （ABCA1） gene influences atherosclerosis. Studies have also demonstrated that cerebral infarction does not occur often in pre...BACKGROUND： Studies have shown that adenosine triphosphate-binding cassette transporter 1 （ABCA1） gene influences atherosclerosis. Studies have also demonstrated that cerebral infarction does not occur often in pre-menopausal women. It has been, therefore, assumed that sex plays a role in R219K polymorphism of ABCA1 gene and cerebral infarction. OBJECTIVE： To explore the relationship between lipid metabolism-correlated R219K polymorphism of ABCA1 gene, risk factors of cerebral infarction and lipid level, and to determine whether there were significant differences in gender between R219K polymorphism of ABCA1 gene and cerebral infarction. DESIGN, TIME AND SETTING： A multicentral and non-randomized, controlled study based on gene polymorphism was performed at the Chinese National Human Genome Center, and lipid concentrations were measured at Beijing Xuanwu Hospital. Patients with cerebral infarction and healthy subjects were enrolled from eight hospitals of six provinces of China between October 2002 and December 2004. PARTICIPANTS： There were 177 patients in the cerebral infarction group, including 119 males and 58 females, with a mean age of （60 -＋ 13） years, and 234 healthy subjects in the normal control group, including 79 males and 155 females, with a mean age of （58 ± 12） years. METHODS： R219K polymorphism of the ABCA1 gene was detected using polymerase chain reaction-restriction fragment length polymorphism, and blood lipid concentrations were simultaneously measured. MAIN OUTCOME MEASURES： Genotype and allele frequency of R219K polymorphic site, and blood lipid concentrations. RESULTS： RR genotype and R allele frequency of males in the cerebral infarction were significantly greater than males in the normal control group [RR genotype： x2 = 5.305, OR （95% CO, 2.326 （1.120 4.828）, P〈 0.05; R allele： x2= 4.219, OR （95% CO, 1.528 （1.019 2.292）, P〈 0.05]. In addition, RR genotype and R allele frequency of males were significantly greater than females in the cerebral infarction group [RR genotype： x2= 5.172, OR （95% C/）, 2.604 （1.120-6.057）, P〈 0.05; R allele： x2= 4.818, OR （95% CO, 1.652 （1.053 2.589）, P〈 0.05]. There were no significant differences between genotype and lipid concentrations between the two groups （P〉 0.05）. CONCLUSION： The RR genotype of ABCA1 R219K might be associated with onset of cerebral infarction in males, but blood lipid concentrations do not relate to R219K polymorphism.展开更多
[ Objective]The aim was to study polymorphism of mat-peptide sequence of IGF1 R gene in Baise horses and thoroughbred, which would af- ford reference for the further studies on the dwarf mechanism and molecular breedi...[ Objective]The aim was to study polymorphism of mat-peptide sequence of IGF1 R gene in Baise horses and thoroughbred, which would af- ford reference for the further studies on the dwarf mechanism and molecular breeding in horses. [Method] A total of 57 blood samples of each breed were collected and genomic DNA was extracted by the standard phenol -chloroform method. Five DNA pools of each breed were constituted and polymorphism sites were identified by sequencing PCR products. Frequencies of genotypes and alleles at these sites of each breed were checked by PCR-RFLP. [Result] Four polymorphism sites were identified in exon 2, 5 and 16, including mutations of T406C, T179 627C, G212 077A and G2.12 110A. No difference was found in the frequency of T179 627C between the Baise horses and thoroughbred. The mutation （3212 077A was only found in the thorou- ghbred, and the mutations, T406C and G212 110A, were only checked out in the Baise horses. [ Conclusion] Whether these mutations are associated with horse growth needs further studies.展开更多
The TTG1 transcription factor plays an important role in the formation of plant trichomes. Based on the R. rugosa transcriptome data, this study cloned a R. rugosa TTG1 gene, named RrTTG1, and carried out bioinformati...The TTG1 transcription factor plays an important role in the formation of plant trichomes. Based on the R. rugosa transcriptome data, this study cloned a R. rugosa TTG1 gene, named RrTTG1, and carried out bioinformatics analysis and fluorescence quantitative analysis to explore the relationship between TTG1 gene and R. rugosa trichomes formation, in order to lay a good foundation to cultivate a thornless plant in the family Rosaceae. In this experiment, six hybrid cultivars of R. rugosa “Zizhi”, R. rugosa “Xizi”, R. rugosa “Tang fen”, R. rugosa “Hun chun”, R. rugosa “Zi long wo chi” and R. rugosa “Tian e huang” were used as experimental materials, and the cDNA full length of this gene was obtained by RT-PCR and RACE, and the full length of the cDNA was 1348 bp. After bioinformatics analysis, it is predicted that its molecular formula is C1723H2661N465O529S12, the molecular weight is 38.71 KB, and the isoelectric point is 5.00. Its instability index is 54.30, which belongs to unstable protein;and its hydrophilic amino acid distribution is relatively uniform, and the amount is larger than hydrophobic amino acid, which belongs to hydrophilic protein. Phylogenetic tree was constructed for the TTG1 gene. Evolutionary analysis indicated that RrTTG1 is closely related to the TTG1 protein of Rosaceae family, and has a close relationship with other families. The expression analysis showed that the expression of RrTTG1 protein was negatively correlated with the trichome content of R. rugosa stems and leaves. The expression levels of the three spiny varieties of R. rugosa “Hun chun”, R. rugosa “Xizi” and R. rugosa “Zi long wo chi” were lower, and the expressions of the three less thorn varieties of R. rugosa “Zizhi”, R. rugosa “Tian e huang” and R. rugosa “Tang fen” were higher. According to the above results, it was speculated that RrTTG1 is involved in the synthesis of R. rugosa trichomes and belongs to the negative regulation mechanism.展开更多
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.
文摘Objective: To detect the expression and the genomic sequence of Doc-1R gene in mice. Methods: The gene specific primers were designed and synthesized according to the cDNA sequence of Doc-1R gene. The sequence of Doc-1R gene was cloned by nested PCR. The expression of Doc-1R gene was examined by RT-PCR in thirteen kinds of tissues of mice. Results: The mouse Doc-1R gene has been obtained by two times genomic walking, which spans 2787 bp and contains four exons and three introns. All of the splice donor/acceptor site sequences are in accordance with the consensus 揋T-AG?rule. There was expression of Doc-1R gene in the thirteen tissues. Conclusion: The mouse Doc-1R gene was cloned successfully. The expression pattern suggests that Doc-1R gene is a housekeeping gene, which is important to keep the function of tissues and organs.
基金supported by the National Nature Science Foundation of China [grants number 81872626,81573151,U1204823,and 81573243]Science and Technology Foundation for Innovation Talent of Henan Province [No.154200510010]
文摘Vitamin D, a fat-soluble vitamin and endocrine horm one, and it impacts various bone and extra-bone health, such as osteoporosis, diabetes, and cancer. The main circulating form of vitamin D is 25-hydroxyvitamin D [25(OH)D] and it is a useful clinical biomarker of vitamin D status. The Institute of Medicine (IOM) defines as vitamin D deficiency (VDD) when serum 25(OH)D concentration is less than 20 ng/mL⑴.Worldwide, VDD is recognized as a severe public health problem. In 2007, Holick estimated that globally over one billion people suffered from VDD or vitamin D insufficiency (VDI). In China, it has bee n reported that the prevale nee of VDD ranged from 38.8% to 91.2% in different regions.
基金support by the Ministerio Educación y CienciaMinisterio de Economía y Competitividad of Spain(until June 2013)
文摘PDRG1 is a small oncogenic protein of 133 residues. In normal human tissues, the p53 and DNA damageregulated gene 1(PDRG1) gene exhibits maximal expression in the testis and minimal levels in the liver. Increased expression has been detected in several tumor cells and in response to genotoxic stress. High-throughput studies identified the PDRG1 protein in a variety of macromolecular complexes involved in processes that are altered in cancer cells. For example, this oncogene has been found as part of the RNA polymerase Ⅱ complex, the splicing machinery and nutrient sensing machinery, although its role in these complexes remains unclear. More recently, the PDRG1 protein was found as an interaction target for the catalytic subunits of methionine adenosyltransferases. These enzymes synthesize S-adenosylmethionine, the methyl donor for, among others, epigenetic methylations that occur on the DNA and histones. In fact, downregulation of S-adenosylmethionine synthesis is the first functional effect directly ascribed to PDRG1. The existence of global DNA hypomethylation, together with increased PDRG1 expression, in many tumor cells highlights the importance of this interaction as one of the putative underlying causes for cell transformation. Here, we will review the accumulated knowledge on this oncogene, emphasizing the numerous aspects that remain to be explored.
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.
文摘BACKGROUND： Studies have shown that adenosine triphosphate-binding cassette transporter 1 （ABCA1） gene influences atherosclerosis. Studies have also demonstrated that cerebral infarction does not occur often in pre-menopausal women. It has been, therefore, assumed that sex plays a role in R219K polymorphism of ABCA1 gene and cerebral infarction. OBJECTIVE： To explore the relationship between lipid metabolism-correlated R219K polymorphism of ABCA1 gene, risk factors of cerebral infarction and lipid level, and to determine whether there were significant differences in gender between R219K polymorphism of ABCA1 gene and cerebral infarction. DESIGN, TIME AND SETTING： A multicentral and non-randomized, controlled study based on gene polymorphism was performed at the Chinese National Human Genome Center, and lipid concentrations were measured at Beijing Xuanwu Hospital. Patients with cerebral infarction and healthy subjects were enrolled from eight hospitals of six provinces of China between October 2002 and December 2004. PARTICIPANTS： There were 177 patients in the cerebral infarction group, including 119 males and 58 females, with a mean age of （60 -＋ 13） years, and 234 healthy subjects in the normal control group, including 79 males and 155 females, with a mean age of （58 ± 12） years. METHODS： R219K polymorphism of the ABCA1 gene was detected using polymerase chain reaction-restriction fragment length polymorphism, and blood lipid concentrations were simultaneously measured. MAIN OUTCOME MEASURES： Genotype and allele frequency of R219K polymorphic site, and blood lipid concentrations. RESULTS： RR genotype and R allele frequency of males in the cerebral infarction were significantly greater than males in the normal control group [RR genotype： x2 = 5.305, OR （95% CO, 2.326 （1.120 4.828）, P〈 0.05; R allele： x2= 4.219, OR （95% CO, 1.528 （1.019 2.292）, P〈 0.05]. In addition, RR genotype and R allele frequency of males were significantly greater than females in the cerebral infarction group [RR genotype： x2= 5.172, OR （95% C/）, 2.604 （1.120-6.057）, P〈 0.05; R allele： x2= 4.818, OR （95% CO, 1.652 （1.053 2.589）, P〈 0.05]. There were no significant differences between genotype and lipid concentrations between the two groups （P〉 0.05）. CONCLUSION： The RR genotype of ABCA1 R219K might be associated with onset of cerebral infarction in males, but blood lipid concentrations do not relate to R219K polymorphism.
文摘[ Objective]The aim was to study polymorphism of mat-peptide sequence of IGF1 R gene in Baise horses and thoroughbred, which would af- ford reference for the further studies on the dwarf mechanism and molecular breeding in horses. [Method] A total of 57 blood samples of each breed were collected and genomic DNA was extracted by the standard phenol -chloroform method. Five DNA pools of each breed were constituted and polymorphism sites were identified by sequencing PCR products. Frequencies of genotypes and alleles at these sites of each breed were checked by PCR-RFLP. [Result] Four polymorphism sites were identified in exon 2, 5 and 16, including mutations of T406C, T179 627C, G212 077A and G2.12 110A. No difference was found in the frequency of T179 627C between the Baise horses and thoroughbred. The mutation （3212 077A was only found in the thorou- ghbred, and the mutations, T406C and G212 110A, were only checked out in the Baise horses. [ Conclusion] Whether these mutations are associated with horse growth needs further studies.
文摘The TTG1 transcription factor plays an important role in the formation of plant trichomes. Based on the R. rugosa transcriptome data, this study cloned a R. rugosa TTG1 gene, named RrTTG1, and carried out bioinformatics analysis and fluorescence quantitative analysis to explore the relationship between TTG1 gene and R. rugosa trichomes formation, in order to lay a good foundation to cultivate a thornless plant in the family Rosaceae. In this experiment, six hybrid cultivars of R. rugosa “Zizhi”, R. rugosa “Xizi”, R. rugosa “Tang fen”, R. rugosa “Hun chun”, R. rugosa “Zi long wo chi” and R. rugosa “Tian e huang” were used as experimental materials, and the cDNA full length of this gene was obtained by RT-PCR and RACE, and the full length of the cDNA was 1348 bp. After bioinformatics analysis, it is predicted that its molecular formula is C1723H2661N465O529S12, the molecular weight is 38.71 KB, and the isoelectric point is 5.00. Its instability index is 54.30, which belongs to unstable protein;and its hydrophilic amino acid distribution is relatively uniform, and the amount is larger than hydrophobic amino acid, which belongs to hydrophilic protein. Phylogenetic tree was constructed for the TTG1 gene. Evolutionary analysis indicated that RrTTG1 is closely related to the TTG1 protein of Rosaceae family, and has a close relationship with other families. The expression analysis showed that the expression of RrTTG1 protein was negatively correlated with the trichome content of R. rugosa stems and leaves. The expression levels of the three spiny varieties of R. rugosa “Hun chun”, R. rugosa “Xizi” and R. rugosa “Zi long wo chi” were lower, and the expressions of the three less thorn varieties of R. rugosa “Zizhi”, R. rugosa “Tian e huang” and R. rugosa “Tang fen” were higher. According to the above results, it was speculated that RrTTG1 is involved in the synthesis of R. rugosa trichomes and belongs to the negative regulation mechanism.
