彬
(2023-01-31 23:40):
#paper Dachs N, Upadhyay M, Hannemann E. Quantitative trait locus for calving traits on Bos taurus autosome 18 in Holstein cattle is embedded in a complex genomic region. J Dairy Sci. 2023 Jan 27:S0022-0302(23)00025-5. doi: 10.3168/jds.2021-21625. 已有研究显示荷斯坦-里弗斯牛及其杂交牛18号染色体上的数量性状与其产犊质量有关,但还未确定具体的相关基因。该研究通过分析大样本的群体基因分型数据、全基因组测序数据、荷斯坦-里弗斯牛动物样本的基因组组装,确定了与畅读质量相关的数量性状位点95%置信区间在18号染色体58.34 至 59.43 Mbp之间。其中有4个SNP与QTL单倍型为连锁不平衡。接下来的工作可能就是分析相关基因或与繁殖性状进行关联分析等等。该研究提供的数据全面描述了基因组特征,这些特征也可能与其他各种牛品种和家畜物种中的其他此类难以捉摸的QTL相关。
Quantitative trait locus for calving traits on Bos taurus autosome 18 in Holstein cattle is embedded in a complex genomic region
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Abstract:
Although the quantitative trait locus (QTL) on chromosome 18 (BTA18) associated with paternal calving ease and stillbirth in Holstein Friesian cattle and its cross has been known for over 20 years, to our knowledge, the exact causal genetic sequence has yet escaped identification. The aim of this study was to re-examine the region of the published QTL on BTA18 and to investigate the possible reasons behind this elusiveness. For this purpose, we carried out a combined linkage disequilibrium and linkage analysis using genotyping data of 2,697 German Holstein Friesian (HF) animals and subsequent whole-genome sequencing (WGS) data analyses and genome assembly of HF samples. We confirmed the known QTL in the 95% confidence interval of 1.089 Mbp between 58.34 and 59.43 Mbp on BTA18. Additionally, these 4 SNPs in the near-perfect linkage disequilibrium with the QTL haplotype were identified: rs381577268 (on 57,816,137 bp, C/T), rs381878735 (on 59,574,329 bp, A/T), rs464221818 (on 59,329,176 bp, C/T), and rs472502785 (on 59,345,689 bp, T/C). Search for the causal mutation using short and long-read sequences, and methylation data of the BTA18 QTL region did not reveal any candidates though. The assembly showed problems in the region, as well as an abundance of segmental duplications within and around the region. Taking the QTL of BTA18 in Holstein cattle as an example, the data presented in this study comprehensively characterize the genomic features that could also be relevant for other such elusive QTL in various other cattle breeds and livestock species as well.
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