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牛参考基因组中Hsp70基因簇缺失的特征分析

Characterization of a deletion in the Hsp70 cluster in the bovine reference genome.

作者信息

Suqueli García M F, Castellote M A, Feingold S E, Corva P M

机构信息

Facultad de Ciencias Agrarias, Universidad Nacional de Mar del Plata, Unidad Integrada Balcarce, C.C. 276, 7620, Balcarce, Argentina.

Laboratorio de Agrobiotecnología, EEA Balcarce, Instituto Nacional de Tecnología Agropecuaria, Unidad Integrada Balcarce, C.C. 276, 7620, Balcarce, Argentina.

出版信息

Anim Genet. 2017 Aug;48(4):377-385. doi: 10.1111/age.12561. Epub 2017 May 31.

Abstract

The 70 kilodalton heat shock proteins (Hsp70) are highly conserved molecular chaperones which have a crucial role in the stress response of the cell. In mammals, the Hsp70 proteins are encoded by a cluster of three genes: HSPA1A, HSPA1B and HSPA1L. In bovines, this cluster is located on chromosome 23 downstream of the major histocompatibility complex (BoLA). We detected inconsistencies in the location of markers on the Hsp70 genes reported in the literature that pointed to a potential deletion in the bovine reference genome UMD 3.1.1. An in silico analysis of the bovine genomic region of the Hsp70 cluster, using available information from public databases, confirmed the existence of a deletion of 11.1-kb spanning the HSPA1B gene and the intergenic region between HSPA1B and HSPA1A. Although we originally considered this an assembly error, it is most likely a particular condition of L1 Dominette 01449, the cow sequenced in the Bovine Genome Project. Moreover, we suggest a new classification of bovine Hsp70 sequences reported in NCBI and a reassignment of the location of SNPs from dbSNP that map to the deletion on BTA23. We also compared the location of selected transcription factor binding sites on the promoters of HSPA1A and HSPA1B. The results generated in the present work could be helpful to refine the reference genome of an important livestock species and also to understand the role and the regulation of the bovine Hsp70 genes.

摘要

70千道尔顿热休克蛋白(Hsp70)是高度保守的分子伴侣,在细胞应激反应中起关键作用。在哺乳动物中,Hsp70蛋白由三个基因簇编码:HSPA1A、HSPA1B和HSPA1L。在牛中,该基因簇位于23号染色体上主要组织相容性复合体(BoLA)的下游。我们检测到文献中报道的Hsp70基因标记位置存在不一致,这表明牛参考基因组UMD 3.1.1中可能存在缺失。利用公共数据库中的可用信息,对Hsp70基因簇的牛基因组区域进行了电子分析,证实存在一个11.1 kb的缺失,跨越HSPA1B基因以及HSPA1B和HSPA1A之间的基因间区域。尽管我们最初认为这是一个组装错误,但它很可能是牛基因组计划中测序的母牛L1 Dominette 01449的特殊情况。此外,我们建议对NCBI中报道的牛Hsp70序列进行新的分类,并重新分配来自dbSNP且映射到BTA23上缺失区域的单核苷酸多态性(SNP)的位置。我们还比较了HSPA1A和HSPA1B启动子上选定转录因子结合位点的位置。本研究产生的结果可能有助于完善重要家畜物种的参考基因组,也有助于了解牛Hsp70基因的作用和调控。

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