马科动物的CENP-A与着丝粒进化。

IF 2.4 4区 生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY
Eleonora Cappelletti, Francesca M Piras, Marialaura Biundo, Rebecca R Bellone, Carrie J Finno, Ted S Kalbfleisch, Jessica L Petersen, Solomon G Nergadze, Elena Giulotto
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引用次数: 0

摘要

虽然着丝粒的功能是保守的,并且由CENP-A在表观遗传上指定,但着丝粒DNA通常由卫星重复序列组成,是高度分化和快速进化的。在马属物种(马、驴和斑马)中,也被称为马科动物,大量的没有卫星重复的着丝粒使我们能够进行着丝粒染色质的分子分析,建立一个独特的哺乳动物着丝粒生物学模型系统。在这篇综述中,在简要描述了马科动物的快速进化之后,我们概述了我们最相关的初步发现之一:CENP-A结合结构域的位置在个体之间是可变的,从而产生了作为孟德尔性状遗传的外显子。这种位置变异最近在人类着丝粒中得到证实,其重复DNA组织可以通过端粒到端粒(T2T)基因组组装来分析。另一个意想不到的观察结果是,在马科动物中,CENP-B不结合着丝核,并且与CENP-A和CENP-C解耦。CENP-B在大多数染色体中不存在,而CENP-B结合DNA序列(CENP-B盒)包含在定位于中心周围或末端位置的卫星中。最后,对无卫星着丝粒的分子和细胞遗传学分析表明,在该属的进化过程中,新着丝粒的诞生通过两种可选的机制发生:着丝粒重新定位和罗伯逊融合。这些事件在核型重组和物种形成中起着关键作用。研究马科动物的着丝粒组织提供了新的见解,了解哺乳动物世界中巨大的生物多样性中着丝粒组织的复杂性,其中大多数物种仍未得到充分研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
CENP-A and centromere evolution in equids.

While the centromeric function is conserved and epigenetically specified by CENP-A, centromeric DNA, typically composed of satellite repeats, is highly divergent and rapidly evolving. In the species of the genus Equus (horses, asses and zebras), also known as equids, the numerous centromeres devoid of satellite repeats enabled us to carry out molecular analysis of centromeric chromatin establishing a unique model system for mammalian centromere biology. In this review, after a brief description of the rapid evolution of equids, we outline one of our most relevant initial discoveries: the position of CENP-A binding domains is variable among individuals giving rise to epialleles which are inherited as Mendelian traits. This positional variability was recently confirmed in human centromeres whose repetitive DNA organization could be analyzed thanks to telomere-to-telomere (T2T) genome assemblies. Another unexpected observation was that, in equids, CENP-B does not bind the centromeric core and is uncoupled from CENP-A and CENP-C. CENP-B is absent from the majority of chromosomes while the CENP-B binding DNA sequence (CENP-B box) is comprised within a satellite that is localized at pericentromeric or terminal positions. Finally, comparative molecular and cytogenetic analyses of satellite-free centromeres revealed that the birth of neocentromeres during the evolution of this genus occurred through two alternative mechanisms: centromere repositioning and Robertsonian fusion. These events played a key role in karyotype reshuffling and speciation. Investigating centromere organization in equids provided new insights into the complexity of centromere organization across the vast biodiversity of the mammalian world, where the majority of species remain understudied.

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来源期刊
Chromosome Research
Chromosome Research 生物-生化与分子生物学
CiteScore
4.70
自引率
3.80%
发文量
31
审稿时长
1 months
期刊介绍: Chromosome Research publishes manuscripts from work based on all organisms and encourages submissions in the following areas including, but not limited, to: · Chromosomes and their linkage to diseases; · Chromosome organization within the nucleus; · Chromatin biology (transcription, non-coding RNA, etc); · Chromosome structure, function and mechanics; · Chromosome and DNA repair; · Epigenetic chromosomal functions (centromeres, telomeres, replication, imprinting, dosage compensation, sex determination, chromosome remodeling); · Architectural/epigenomic organization of the genome; · Functional annotation of the genome; · Functional and comparative genomics in plants and animals; · Karyology studies that help resolve difficult taxonomic problems or that provide clues to fundamental mechanisms of genome and karyotype evolution in plants and animals; · Mitosis and Meiosis; · Cancer cytogenomics.
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