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通过荧光原位杂交技术鉴定牛科动物基因组组装中的一些错误

Identification of Some Errors in the Genome Assembly of Bovidae by FISH.

作者信息

De Lorenzi Lisa, Parma Pietro

出版信息

Cytogenet Genome Res. 2020;160(2):85-93. doi: 10.1159/000506221. Epub 2020 Apr 2.

DOI:10.1159/000506221
PMID:32235117
Abstract

From an economic point of view, Bovidae represent the most important family of the Ruminantia suborder. Thus, the mitochondrial and nuclear genomes of Bos taurus were among the first genomes to be sequenced after the sequencing of the human genomes. Over the millennia, the evolution of the genomes of the 3 main species belonging to the Bovidae family - B. taurus (BTA), Ovis aries (OAR), and Capra hircus (CHI) - has led to few chromosome rearrangements. Certainly, the availability and free access to the animal genomes significantly contributed to the improvement of animal genetics; however, some errors may exist due to the high automation in the genomic assembly construction process. In this work, some differences between the genomes of cattle, goat, and sheep highlighted by bioinformatics analysis have been verified by FISH, confirming that some errors persist even in the most recent genome assemblies. This type of approach has allowed us to detect a misassembly of a region belonging to BTA16 and to the homologues OAR12 and CHI16, a misassembly of a short tract in BTA22, OAR19, and CHI22, an incorrect mapping of a region of BTA21 and of CHI27 and OAR26, a discrepancy in the BTA26, OAR22, and CHI26 assemblies, a missed inversion in CHI1 compared to BTA1 and OAR1, and the exact assembly of a region of about 7 Mb in OAR10 and CHI12. Incorrect positioning of genomic tracts can cause unintended consequences in genetic analyses, especially when the data represent a starting point for the construction of genetic tools. In the new genomic assemblies published after the conclusion of our experiments, however, the accuracy in the construction of animal assemblies has been much improved, even if the new assemblies present more extended unmapped portions than the previous versions. The gap could be filled by comparative analyses between similar species or FISH.

摘要

从经济学角度来看,牛科动物是反刍亚目中最重要的科。因此,在人类基因组测序之后,牛的线粒体基因组和核基因组是首批被测序的基因组之一。数千年来,牛科动物的3个主要物种——牛(BTA)、绵羊(OAR)和山羊(CHI)——的基因组进化导致的染色体重排很少。当然,动物基因组的可得性和免费获取极大地促进了动物遗传学的发展;然而,由于基因组组装构建过程中的高度自动化,可能存在一些错误。在这项工作中,通过生物信息学分析突出显示的牛、山羊和绵羊基因组之间的一些差异已通过荧光原位杂交(FISH)得到验证,证实即使在最新的基因组组装中仍存在一些错误。这种方法使我们能够检测到属于BTA16以及同源的OAR12和CHI16的一个区域的组装错误、BTA22、OAR19和CHI22中一个短片段的组装错误、BTA21以及CHI27和OAR26的一个区域的错误映射、BTA26、OAR22和CHI26组装中的差异、与BTA1和OAR1相比CHI1中一个缺失的倒位,以及OAR10和CHI12中一个约7 Mb区域的准确组装。基因组片段的错误定位可能会在遗传分析中导致意想不到的后果,尤其是当这些数据是构建遗传工具的起点时。然而,在我们的实验结束后发布的新基因组组装中,动物组装构建的准确性有了很大提高,即使新组装中未映射部分比以前的版本更多。可以通过相似物种之间的比较分析或荧光原位杂交来填补这一空白。

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