首页> 美国卫生研究院文献>Journal of Animal Science >322 Evaluation of the biological function of genes linked to regions with distortion of Mendelian segregation and their relation to reproductive traits in dairy cattle.
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322 Evaluation of the biological function of genes linked to regions with distortion of Mendelian segregation and their relation to reproductive traits in dairy cattle.

机译:322评估与孟德尔偏析区域相关的基因的生物学功能及其与奶牛繁殖性状的关系。

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摘要

Distortion of the Mendelian segregation or transmission ratio distortion (TRD) refers to the significant departure from Mendel’s law of the transmission of alleles from heterozygous parents to offspring. This phenomenon has been attributed to various biological mechanisms before fertilization, during fetal and embryonic development and in neonatal life. Thus, TRD has been associated with impaired fertility and offspring survival at embryonic, fetal and postnatal stages. The objective of this study was to evaluate the functional consequences of genomic regions showing TRD in a population of 436,651 Holstein dairy cattle with trios of raw genotypes. Genotype data (trios) included genotypes from dam, sire and offspring using medium and high density SNP arrays. Functional analysis included 877 positional genes associated with all SNPs previously identified as displaying strong significant TRD (Bayes Factor ≥10), using a Bayesian approach. Gene ontology (GO) and network analyses were performed using WebGestalt and STRING software. The GO analysis showed significant biological processes related to embryonic stages, such as regulation of mitotic cell cycle, stem cell population maintenance, skeletal system morphogenesis or forebrain development. In addition, the genes within significant TRD regions were further investigated performing gene networks analysis. A total of 849 specific and meaningful connections between the genes were detected (p-value< 1.0e-16), meaning that there were more associations between genes related to TRD than the ones that could be expected by chance. The highest enriched metabolic pathway in the gene network was the regulation of actin cytoskeleton. This pathway has been linked to sprouting of neurites in early embryonic differentiation. Hence, functional analyses on TRD regions showed that the positional candidate genes might have a direct impact on embryo development. Additional data mining approaches will be performed to identify key regulator genes, which may harbor potential structural variations that directly affect reproductive traits in dairy cattle.
机译:孟德尔分离或传输比率失真(TRD)的失真是指等位基因从杂合子父母传给后代的孟德尔定律的重大偏离。这种现象归因于受精前,胎儿和胚胎发育期间以及新生儿中的各种生物学机制。因此,TRD与胚胎,胎儿和出生后阶段的生育能力受损和后代存活有关。这项研究的目的是评估在具有原始基因型三重基因的436651荷斯坦奶牛种群中显示TRD的基因组区域的功能后果。基因型数据(三重体)包括使用中密度和高密度SNP阵列从大坝,父亲和后代获得的基因型。功能分析包括877个与所有SNP相关的位置基因,这些基因先前已使用贝叶斯方法鉴定为具有很强的显着TRD(贝叶斯因子≥10)。使用WebGestalt和STRING软件进行基因本体(GO)和网络分析。 GO分析显示了与胚胎阶段有关的重要生物学过程,例如有丝分裂细胞周期的调节,干细胞群体的维持,骨骼系统形态发生或前脑发育。此外,还对重要的TRD区域内的基因进行了基因网络分析。共检测到849个基因之间的特定且有意义的连接(p值<1.0e-16),这意味着与TRD相关的基因之间的关联比偶然发现的关联要多。基因网络中最高富集的代谢途径是肌动蛋白细胞骨架的调节。该途径与早期胚胎分化中神经突的发芽有关。因此,对TRD区域的功能分析表明,位置候选基因可能对胚胎发育有直接影响。将执行其他数据挖掘方法以识别关键的调控基因,这些基因可能具有直接影响奶牛繁殖性状的潜在结构变异。

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