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ABSTRACT: Brachyspina syndrome (BS) is a rare monogenic autosomal recessive hereditary disorder identified in the Holstein breed caused by a 3.3-kb deletion in the bovine Fanconi anemia complementation group I (FANCI) gene on chromosome 21. In previous reports, the BS mutant allele was identified in North American and European Holstein populations. Because frozen semen and embryos have been imported into China from such regions during the past few years, BS has potentially spread into the dairy cattle population in China. In the present study, 206 Holstein bulls and 136 Holstein cows were tested for BS, with 10 BS carrier bulls and 3 carrier cows identified. Pedigree analysis showed that all 10 BS carrier bulls could be traced back to a common ancestor, the U.S. Holstein sire Sweet Haven Tradition. It is recommended that effective selection and mating strategies should be carried out to gradually eliminate this recessive gene from the Chinese Holstein population.
Journal of veterinary diagnostic investigation: official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc 05/2013; · 1.21 Impact Factor
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ABSTRACT: Gene expression of lymphocytes was found to be influenced by histone methylation in mammals and trimethylation of lysine 27 on histone H3 (H3K27me3) normally represses genes expressions. Peripheral blood lymphocytes are the main source of somatic cells in the milk of dairy cows that vary frequently in response to the infection or injury of mammary gland and number of parities.
The genome-wide status of H3K27me3 modifications on blood lymphocytes in lactating Holsteins was performed via ChIP-Seq approach. Combined with digital gene expression (DGE) technique, the regulation effects of H3K27me3 on genes expressions were analyzed.
The ChIP-seq results showed that the peaks of H3K27me3 in cows lymphocytes were mainly enriched in the regions of up20K (~50%), down20K (~30%) and intron (~28%) of the genes. Only ~3% peaks were enriched in exon regions. Moreover, the highest H3K27me3 modification levels were mainly around the 2 Kb upstream of transcriptional start sites (TSS) of the genes. Using conjoint analysis with DGE data, we found that H3K27me3 marks tended to repress target genes expressions throughout whole gene regions especially acting on the promoter region. A total of 53 differential expressed genes were detected in third parity cows compared to first parity, and the 25 down-regulated genes (PSEN2 etc.) were negatively correlated with H3K27me3 levels on up2Kb to up1Kb of the genes, while the up-regulated genes were not showed in this relationship.
The first blueprint of bovine H3K27me3 marks that mediates gene silencing was generated. H3K27me3 plays its repressed role mainly in the regulatory region in bovine lymphocytes. The up2Kb to up1Kb region of the down-regulated genes in third parity cows could be potential target of H3K27me3 regulation. Further studies are warranted to understand the regulation mechanisms of H3K27me3 on somatic cell count increases and milk losses in latter parities of cows.
PLoS ONE 01/2012; 7(6):e39094. · 4.09 Impact Factor
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ABSTRACT: CD4+ T cells play a key role in the immune response of pathogen-induced mastitis in dairy cattle. Mammary gland factor STAT5b is involved in the regulation of CD4+T cell differentiation during inflammatory response and milk production. Little is known about the genetic variation effects of bovine CD4 and STAT5b genes on somatic cell score (SCS) and milk production traits in dairy cattle. The aim of the study was to investigate the single nucleotide polymorphisms (SNPs) of bovine CD4 and STAT5b in Chinese Holsteins and to analyse their association with estimated breeding values (EBVs) for SCS and milk production traits. In the present study, SNPs of CD4 (NC_007303 g.13598C>T) and STAT5b (NC_007317 g.31562 T>C) were identified and genotyped in Chinese Holstein population. The results showed that both SNPs were significantly associated with the EBVs for milk yield and protein yield in Chinese Holstein cows, and the SNP in CD4 was associated with the EBV for SCS (P<0·01). The additive effect of CD4 SNP on protein yield was significant (P<0·05), and the dominant effect of STAT5b SNP was significant on milk yield and protein yield (P<0·01). Cows with combination genotype C7 (CCTT: CD4 g.13598C>T and STAT5b g.31562 T>C) had the highest SCS EBV but lower milk yield, while cows with C2 (TTTC) produced more milk, fat and protein than the other eight combination genotypes. These results suggested that the SNPs in CD4 and STAT5b may be potential genetic markers for SCS and milk/protein yields selecting and warrant further functional research.
Journal of Dairy Research 03/2011; · 1.34 Impact Factor
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ABSTRACT: Complex vertebral malformation is caused by a single base mutation from G to T at the nucleotide position 559 in the bovine solute carrier family 35 member 3 (SLC35A3) gene exon 4 on Bos Taurus autosome (BTA) 3. The presence of the disease gene in Holstein dairy cattle has been reported in many countries. In this study, we examined 38 top Chinese Holstein sires in Beijing, four of which were identified as CVM carriers. Furthermore, 555 daughters of the four CV sires were examined and 44.0% of them were identified as heterozygotes at the mutation site. The association analysis between estimated breeding values (EBV) of dairy performance traits and the polymorphism showed that there were extremely significant differences between the carriers and the non-carriers (P<0.01). The EBVs of the five milk production traits of CVM carriers were significantly higher than those of non-carriers, and the lactation persistency and somatic cell score (SCS) were also higher in CVM carriers. Therefore, CVM gene seems to link with a QTL or gene associated with milk production traits on BTA3. It is recommended to cull the CVM carriers gradually for economical and breeding reasons.
Hereditas (Beijing) 07/2010; 32(7):732-6.
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ABSTRACT: Insulin-like growth factors are crucial in cellular growth, differentiation, and reproduction by mediating many of the actions of growth hormone in chickens. To determine whether insulin-like growth factors genes (IGFs) are associated with important economic traits in chicken or not, we herein analyzed the association between two single nucleotide polymorphisms (SNPs) within IGF1 and IGF2 and twenty-seven growth, body measurement, carcass, and reproduction traits in two Chinese native breeds, i.e., Beijing You and Silkies. With marker-trait association analysis, we found that SNP IGF1-PstI, within the 5' flanking region of IGF1, was significantly associated with body weight at 8 (BW8), 10 (BW10), and 13 (BW13) wk of age; and shank length (SL13) and shank circumference (SC13) at 13 wk of age in Silkie population (P < 0.05). The SNP IGF2-MspI within the exon2 of IGF2 showed a significant association with body weight (BW17) and carcass weight (CW17) at 17 wk of age in Beijing You population (P < 0.05). Our findings implied that the SNPs within IGF1 and IGF2 genes could be in linkage disequilibrium with the actual causative mutations that affect growth and carcass traits.
Animal Biotechnology 04/2010; 21(2):104-13. · 0.93 Impact Factor
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ABSTRACT: Complex vertebral malformation (CVM) is a monogenic autosomal recessive hereditary defect of Holstein dairy cattle. It is caused by a point mutation from G to T at the nucleotide position 559 in bovine solute carrier family 35, member 3 gene (SLC35A3), which changes the amino acid sequence of uridine 5'-diphosphate-N-acetylglucosamine transporter protein from a valine to a phenylalanine in position 180. The elite U.S. Holstein sire Penstate Ivanhoe Star was identified as the common ancestor of the current CVM carriers. Because his offspring, mainly those of Carlin-M Ivanhoe Bell, were used in many countries, CVM has potentially spread into China. In the present study, using the polymerase chain reaction-single-stranded conformational polymorphism (PCR-SSCP) technique, 10 CVM carriers were found among 68 at-risk Chinese Holstein bulls, and 282 carriers were found among 602 at-risk cows. The results of this study indicate that the CVM gene exists in the Chinese Holstein population.
Journal of veterinary diagnostic investigation: official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc 04/2008; 20(2):228-30. · 1.21 Impact Factor
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ABSTRACT: Nine multiplex-PCR-sets, including four triplex and five duplex combinations, were developed from 30 domestic buffalo microsatellite markers based on electrophoresis analysis of PCR products in denaturing polyacrylamide gels and visualization by silver-staining. Further, genetic variability on these microsatellites was examined in Xinglong buffalo of Hainan Province. Twenty-six loci exhibited genetic variation while four microsatellites (CSSM045, ILSTS008, RM099 and HMH1R) were monomorphism. The mean of number of alleles and the expected heterozygosity across 30 microsatellite loci were 4.7 and 0.534, respectively. These optimized multiplex-PCR-sets provide a technical basis for genetic diversity study and parentage test of domestic buffalo.
Hereditas (Beijing) 02/2008; 30(1):59-64.