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牛(Bos taurus,2n = 60)和河流型水牛(Bubalus bubalis,2n = 50)基因组组装的比较分析揭示了两个进化保守的倒位以及一些常染色体的着丝粒 - 端粒方向无效。

Comparative analysis of cattle (Bos taurus, 2n = 60) and river buffalo (Bubalus bubalis, 2n = 50) genome assemblies reveals two evolutionary conserved inversions and invalid centromere-telomere orientation of some autosomes.

作者信息

Pistucci Ramona, Cascone Ilaria, Iannuzzi Alessandra, Albarella Sara, Kowal-Mierzwa Wiktoria, Zannotti Michele, Iannuzzi Leopoldo, Parma Pietro

机构信息

Institute for Animal Production System in Mediterranean Environment, National Research Council, Portici, Italy.

Department of Veterinary Medicine and Animal Production, University of Naples Federico II, Naples, Italy.

出版信息

Anim Genet. 2025 Aug;56(4):e70031. doi: 10.1111/age.70031.

DOI:10.1111/age.70031
PMID:40721267
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12303695/
Abstract

This study investigates autosome evolution between river buffalo (Bubablus bubalis, BBU) and cattle (Bos taurus, BTA), two closely related species within the Bovidae family. Despite differences in chromosome numbers (2n = 60 in cattle and 2n = 50 in river buffalo), previous cytogenetic studies have shown high autosome similarity. However, standard banding techniques have limitations in detecting small-scale genomic rearrangements. Using molecular comparisons, this study identifies two previously undetected chromosomal inversions: a 30-Mb inversion on BBU7 (compared to BTA6) and a 4-Mb inversion on BBU14 (compared to BTA13). These findings were validated through bioinformatics analyses (genomic alignments and BLAST searches) and confirmed via fluorescence in situ hybridization technique. In addition, it has been shown that several river buffalo chromosomes are shown inverted in the genome assembly considered in this study (NDDB_SH_1). The study highlights that autosome evolution in Bovidae involves not only centric fusions but also cryptic intra-chromosomal rearrangements. These results contribute to a deeper understanding of genome evolution in closely related species and demonstrate the importance of high-resolution molecular techniques in uncovering hidden genomic changes.

摘要

本研究调查了水牛(Bubablus bubalis,BBU)和牛(Bos taurus,BTA)这两个牛科家族中密切相关物种之间的常染色体进化。尽管染色体数目存在差异(牛为2n = 60,水牛为2n = 50),但先前的细胞遗传学研究表明常染色体具有高度相似性。然而,标准的显带技术在检测小规模基因组重排方面存在局限性。本研究通过分子比较,鉴定出两个先前未检测到的染色体倒位:BBU7上一个30 Mb的倒位(与BTA6相比)和BBU14上一个4 Mb的倒位(与BTA13相比)。这些发现通过生物信息学分析(基因组比对和BLAST搜索)得到验证,并通过荧光原位杂交技术得到证实。此外,研究表明,在本研究考虑的基因组组装(NDDB_SH_1)中,几条水牛染色体呈现倒位。该研究强调,牛科动物的常染色体进化不仅涉及着丝粒融合,还涉及隐藏的染色体内重排。这些结果有助于更深入地理解密切相关物种的基因组进化,并证明了高分辨率分子技术在揭示隐藏的基因组变化方面的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6178/12303695/de19e8a468da/AGE-56-0-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6178/12303695/de19e8a468da/AGE-56-0-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6178/12303695/de19e8a468da/AGE-56-0-g005.jpg

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