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Cytogenetic Characterization of a Small Evolutionary Rearrangement Involving Chromosomes BTA21 and OAR18
Cytogenetic and Genome Research ( IF 1.7 ) Pub Date : 2020-01-01 , DOI: 10.1159/000507645
Lisa De Lorenzi , Alfredo Pauciullo , Alessandra Iannuzzi , Pietro Parma

Both cattle (Bos taurus) and sheep (Ovis aries) belong to the Bovidae family but to different subfamilies, Bovinae and Caprinae, respectively. From a chromosomal point of view, apart from the already known centric fusions (that occurred during the evolutionary process in the Bovidae family) and the small differences in the chromosome classification, the 2 karyotypes are very similar in banding patterns. In this study, the combination of bioinformatics techniques and physical mapping of DNA markers enabled the identification of a micro-rearrangement, a small inversion involving bovine chromosome 21 (BTA21) and the corresponding sheep chromosome 18 (OAR18). The aim of this study was the cytogenetic characterization of this difference in genomic assemblies between cattle and sheep in this single chromosome region. To verify the inversion in FISH experiments, we used the BACs 442H08 and 222H03 from the INRA library and BACs 134H22 and 436P08 from the sheep-specific CHORI library. The results confirmed the presence of the inverted fragment in sheep compared to the cattle genome. Genomic rearrangements may have consequences depending on their influence on gene activity, but in this case no gene or transcribed DNA portion seemed to be involved. In conclusion, we showed for the first time, concerning autosomes, that besides the already known centric fusions also other differences exist between the bovine and sheep karyotypes. Furthermore, we demonstrated that the combination of a bioinformatics approach and physical mapping is a valid tool for the identification of currently unknown rearrangements between related species.

中文翻译:

涉及 BTA21 和 OAR18 染色体的小进化重排的细胞遗传学表征

牛(Bos taurus)和绵羊(Ovis aries)都属于牛科,但分别属于不同的亚科,牛亚科和山羊亚科。从染色体的角度来看,除了已知的中心融合(发生在牛科的进化过程中)和染色体分类上的微小差异外,这两种核型在条带模式上非常相似。在这项研究中,生物信息学技术与 DNA 标记物的物理定位相结合,能够识别出微重排,即涉及牛 21 号染色体 (BTA21) 和相应的绵羊 18 号染色体 (OAR18) 的小倒位。本研究的目的是对该单染色体区域中牛和羊之间的基因组组装差异进行细胞遗传学表征。为了验证 FISH 实验中的倒置,我们使用了来自 INRA 文库的 BAC 442H08 和 222H03 以及来自绵羊特异性 CHORI 文库的 BAC 134H22 和 436P08。结果证实了与牛基因组相比,绵羊中存在倒置片段。基因组重排可能会产生后果,具体取决于它们对基因活性的影响,但在这种情况下,似乎不涉及基因或转录的 DNA 部分。总之,我们首次表明,关于常染色体,除了已知的中心融合之外,牛和羊核型之间还存在其他差异。此外,我们证明了生物信息学方法和物理图谱的结合是识别相关物种之间目前未知的重排的有效工具。我们使用了来自 INRA 文库的 BAC 442H08 和 222H03 以及来自绵羊特异性 CHORI 文库的 BAC 134H22 和 436P08。结果证实了与牛基因组相比,绵羊中存在倒置片段。基因组重排可能会产生后果,具体取决于它们对基因活性的影响,但在这种情况下,似乎不涉及基因或转录的 DNA 部分。总之,我们首次表明,关于常染色体,除了已知的中心融合之外,牛和羊核型之间还存在其他差异。此外,我们证明了生物信息学方法和物理图谱的结合是识别相关物种之间目前未知的重排的有效工具。我们使用了来自 INRA 文库的 BAC 442H08 和 222H03 以及来自绵羊特异性 CHORI 文库的 BAC 134H22 和 436P08。结果证实了与牛基因组相比,绵羊中存在倒置片段。基因组重排可能会产生后果,具体取决于它们对基因活性的影响,但在这种情况下,似乎不涉及基因或转录的 DNA 部分。总之,我们首次表明,关于常染色体,除了已知的中心融合之外,牛和羊核型之间还存在其他差异。此外,我们证明了生物信息学方法和物理图谱的结合是识别相关物种之间目前未知的重排的有效工具。
更新日期:2020-01-01
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