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Perilipin 2 (PLIN2) is a cytosolic protein that regulates intracellular lipid storage and mobilization. However, research reports of the relationship between PLIN2 gene and growth traits in cattle are rare. Here, five novel single nucleotide polymorphisms (SNPs)（g.3036G > C, g.3964C > T, g.6458G > T, g.6555C > T and g.8231G > A）were identified within the bovine PLIN2 gene using DNA sequencing and PCR-SSCP methods in 820 individuals from four Chinese indigenous bovine breeds. Overall, five common haplotypes were identified based on the 5 SNPs, with the most common haplotypes (GCGCG) occurring at a frequency of 69.0%. In addition, The 5 novel SNPs were associated with growth traits at 6, 12, 18 and 24 months in Nanyang population, and significant associations were found in body weight and heart girth. These results suggest that PLIN2 possibly is a strong candidate gene marker for body weight in cattle breeding program. [ABSTRACT FROM AUTHOR]

Insulin-like growth factor II (IGF-II) is one of the members of the somatotropic axis which controls the growth and development of animals. This study was conducted to identify single-nucleotide polymorphisms in the IGF2 gene and study their associations with two production traits in a Chinese indigenous chicken (Langshan chicken) population. Genetic variants within the IGF2 gene were screened through PCR-SSCP and DNA sequencing methods. A C6707G mutation (Chromosome 5 position 13,161,038 build 4) was identified. Associations between the mutations of the gene with two production traits were analysed. The results showed that individuals within the GG genotype had significantly higher 16-week-old body weight than those within the CG genotype. In addition, the GG individuals also had significantly higher 300 days egg numbers than individuals within CC or CG genotype. Ratios of dominance effects to absolute values of additive effects were less than 0 for both traits implying that Langshan chickens with homozygous genotypes for this locus had higher performance than individuals with heterozygous genotypes. [ABSTRACT FROM AUTHOR]

The article presents study on haplotype combination of the caprine PC1 gene sequence variants and association with growth traits in Chinese Haimen breed. It mentions study on variations in the exons and exon or intron junctions of caprine PC1 gene, using polymerase chain reaction (PCR)-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing. It adds the linkage disequilibrium (LD)and haplotypes in the caprine PC1 gene of the Chinese Haimen breed.

Background: Copy number variations (CNVs) represent an important type of genetic variation that deeply impact phenotypic polymorphisms and human diseases. The advent of high-throughput sequencing technologies provides an opportunity to revolutionize the discovery of CNVs and to explore their relationship with diseases. However, most of the existing methods depend on sequencing depth and show instability with low sequence coverage. In this study, using low coverage whole-genome sequencing (LCS) we have developed an effective population-scale CNV calling (PSCC) method. Methodology/Principal Findings: In our novel method, two-step correction was used to remove biases caused by local GC content and complex genomic characteristics. We chose a binary segmentation method to locate CNV segments and designed combined statistics tests to ensure the stable performance of the false positive control. The simulation data showed that our PSCC method could achieve 99.7%/100% and 98.6%/100% sensitivity and specificity for over 300 kb CNV calling in the condition of LCS (∼2×) and ultra LCS (∼0.2×), respectively. Finally, we applied this novel method to analyze 34 clinical samples with an average of 2× LCS. In the final results, all the 31 pathogenic CNVs identified by aCGH were successfully detected. In addition, the performance comparison revealed that our method had significant advantages over existing methods using ultra LCS. Conclusions/Significance: Our study showed that PSCC can sensitively and reliably detect CNVs using low coverage or even ultra-low coverage data through population-scale sequencing. [ABSTRACT FROM AUTHOR]

Copy number variations (CNVs) recently have been recognized as an important source of genetic variability. Compelling evidence has indicated that CNVs are responsible for phenotypic traits by altering the copy numbers of functional genes. The molecule interacting with CasL-like protein 2 ( MICAL- L2) gene plays a critical role in muscle fiber development and has been identified in the CNV region by comparative genomic hybridization array. In the present study, we detected the different distributions of MICAL- L2 gene copy numbers in four Chinese cattle breeds (QC, NY, LX, and CY) and investigated the functional effects of MICAL- L2 CNVs on the gene’s expression level and the phenotypic traits in QC and NY cattle. The results showed that the copy number loss (relative to Angus cattle) was more frequent in CY than in the other breeds. The MICAL- L2 gene copy number presented a moderate negative correlation with the transcriptional expression in fetal skeletal muscles ( P < 0.05). Statistical analysis revealed that the MICAL- L2 CNVs were significantly associated with body weight, body height, and body length of NY cattle in the early stages (6 and 12 months old), and the copy number loss showed better traits than the gain and/or median groups ( P < 0.05). No significance was found at the late stages in QC (24 months old) and NY cattle (18 and 24 months old). These observations provided further insight into the associations between cattle CNVs and economic traits, suggesting that the CNVs may be considered promising markers for the molecular breeding of Chinese beef cattle. [ABSTRACT FROM AUTHOR]

Copyright of Genome is the property of Canadian Science Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Genome is the property of Canadian Science Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

p30 plays a critical role in the regulation of glucose and lipid homeostasis. In this study, polymorphism of the Acrp30 gene was detected by PCR-SSCP and DNA sequencing methods in 321 individuals from three goat breeds, and the association of Acrp30 gene polymorphism with growth traits in the three goat breeds was analyzed. A novel insert/deletion (GT) microsatellite sequence was detected in the 5′ flanking region of the gene. Three genotypes (AA, AB, and BB) were found in three breeds. There was moderate genetic diversity in the locus in the analyzed populations. Significant associations were observed between the genotypes of the locus and growth traits in the Boer goat population. The chest circumference of individuals with genotype BB was significantly greater than that of individuals with genotype AA. [ABSTRACT FROM AUTHOR]

The objectives of the present study were to estimate the allele and genotype frequencies of the POU1F1/HinfI polymorphisms in beef cattle belonging to four different genetic groups and to determine the effects of these polymorphisms on growth traits in cattle. The 451-bp PCR products of POU1F1 gene digested with HinfI exhibited three genotypes and two alleles, which were at Hardy-Weinberg equilibrium (P > 0.05). Genotype BB was the predominant genotype and B the predominant allele in the studied populations. There was significant difference between Limousin × Qinchuan and Qinchuan in the distribution of genotypes (P < 0.0001). The association of the polymorphism of the POU1F1 gene with growth traits among Qinchuan, Limousin × Qinchuan, Angus × Qinchuan and Germany Yellow × Qinchuan crosses was analyzed. Body weight and wither height of individuals with genotypes AB were higher (P < 0.05)than that of individuals with genotype BB in the Germany Yellow × Qinchua cross, but were not in the other three populations (P > 0.05). [ABSTRACT FROM AUTHOR]

Abstract: It has been well established that mutations of the solute carrier family 11 A1 (SLC11A1) gene are responsible for susceptibility to a number of intracellular pathogens. Mastitis is the most common and most costly disease of dairy cattle, commonly caused by bacteria. As SLC11A1 protein is involved in bacterial killing, we assumed SLC11A1 gene as a candidate gene for bovine mastitis resistance. In this study, polymorphisms in the SLC11A1 gene were identified in the Chinese Holstein population. Genotypes were constructed, and their associations with somatic cell score and milk yield were determined. Single-strand conformation polymorphisms and DNA sequencing were used to reveal polymorphisms in SLC11A1 gene. A SNP in coding region and a variation of GT repeats in 3′-untranslated region were detected. The SNP resulted in an amino acid variation of p.P356A in transmembrane 8 of SLC11A1 peptide, which is the most conserved consecutive region. However, no associations were observed between the detected polymorphisms and somatic cell scores and milk yield in the Chinese Holstein population. [Copyright &y& Elsevier]

Abstract: Growth is under complex genetic control and uncovering the molecular mechanisms how the genes and polymorphisms affect economic growth traits, are important for successful marker-assisted selection and more efficient management strategies in commercial cattle populations. SIRT1 is a NAD+-dependent deacetylase that belongs to the class III histone deacetylases. It plays an important role in numerous fundamental cellular processes including gene silencing, DNA repair, and metabolic regulation. In addition, SIRT1 acts as an inhibitor of adipogenesis and has been associated with body weight regulation. The objective of the present study was to identify single nucleotide polymorphisms (SNPs) of bovine SIRT1 using 1255 animals representing the five main Chinese breeds and to determine if these SNPs are associated with economically important traits in Nanyang cattle. The approach consisted of resequencing SIRT1 using a panel of DNA from unrelated animals of five different breeds and the process revealed five novel SNPs. SNPs g.17324T>C and g.17491G>A exhibited a high degree of linkage disequilibrium in all tested breeds. Seven major haplotypes accounting for 91.2% of the alleles were observed and the haplotype ‘GCCGA’ was the most common haplotype in NY, QC, LX and JX breeds. An association analysis was performed between the five SNPs and six performance traits. SNP g.-274C>G was demonstrated to have a strong effect on 24-months-old body weight and g.17379A>G polymorphism was related to 6 and 12-months-old body weight in NY population, although these effects did not remained significant after the Bonferroni correction. Our results provide evidence that polymorphisms in SIRT1 are associated with growth efficiency traits, and may be used for marker-assisted selection and management in feedlot cattle. [Copyright &y& Elsevier]

Abstract: Wnt7a is a member of the WNT gene family, which encodes secreted signaling proteins and responds to many biological processes. Specifically Wnt7a influences satellite stem cells and regulates the regenerative potential of the muscle. However, similar researches about the bovine Wnt7a gene are lacking. Therefore, in this study, polymorphisms of the bovine Wnt7a gene were detected in 488 individuals from Chinese Qinchuan cattle by DNA pooling, forced PCR-RFLP, and DNA sequencing methods. 3 novel SNPs were identified, two SNPs (g.T4926C and g.A21943G) were in the intron and the last one (g.C63777T) was in the exon. Five haplotypes involved in these three variant sites in the Wnt7a gene were identified and their effects on growth traits were analyzed. The results revealed that haplotype 1 had the highest haplotype frequencies and was highly significantly associated with body height (P<0.01), body weight (P<0.05), chest width (P<0.05) and height at hip cross (P<0.01) respectively. [Copyright &y& Elsevier]

Abstract: Growth hormone-releasing hormone (GHRH) is secreted by the hypothalamus and stimulates growth hormone (GH) released from the pituitary. Mutations detected in GHRH gene showed associations with animal production traits. The purpose of this study was to investigate the association of the GHRH gene with growth traits in Chinese native cattle. PCR-SSCP and sequencing were used to detect mutations of the GHRH gene in this study. One novel mutation 4251nt (C>T) was found and the frequencies of C allele were 0.8778 and 0.8476 for Qinchuan and Nanyang cattle, respectively. Body weight with the CT genotype was significantly higher (P <0.05 or P <0.01) than those with CC genotype for different growth periods (6, 12, 18, and 24months old) in Nanyang cattle. Our findings suggested that polymorphism in bovine GHRH might be one of the important genetic factors to influence body weight. [Copyright &y& Elsevier]