Ferreri G C, Liscinsky D M, Mack J A, Eldridge M D B, O'Neill R J
Department of Molecular and Cell Biology, U-2131, University of Connecticut, Storrs, CT 06269-2131, USA.
J Hered. 2005 May-Jun;96(3):217-24. doi: 10.1093/jhered/esi029. Epub 2005 Jan 13.
The centromere is a cytologically defined entity that possesses a conserved and restricted function in the cell: it is the site of kinetochore assembly and spindle attachment. Despite its conserved function, the centromere is a highly mutable portion of the chromosome, carrying little sequence conservation across taxa. This divergence has made studying the movement of a centromere, either within a single karyotype or between species, a challenging endeavor. Several hypotheses have been proposed to explain the permutability of centromere location within a chromosome. This permutability is termed "centromere repositioning" when described in an evolutionary context and "neocentromerization" when abnormalities within an individual karyotype are considered. Both are characterized by a shift in location of the functional centromere within a chromosome without a concomitant change in linear gene order. Evolutionary studies across lineages clearly indicate that centromere repositioning is not a rare event in karyotypic evolution and must be considered when examining the evolution of chromosome structure and syntenic order. This paper examines the theories proposed to explain centromere repositioning in mammals. These theories are interpreted in light of evidence gained in human studies and in our presented data from the marsupial model species Macropus eugenii, the tammar wallaby.
着丝粒是一个在细胞学上定义的实体,在细胞中具有保守且受限的功能:它是动粒组装和纺锤体附着的位点。尽管其功能保守,但着丝粒是染色体中高度可变的部分,在不同分类群之间几乎没有序列保守性。这种差异使得研究着丝粒在单个核型内或物种间的移动成为一项具有挑战性的工作。已经提出了几种假说来解释着丝粒在染色体内位置的可置换性。当在进化背景下描述时,这种可置换性被称为“着丝粒重新定位”;当考虑个体核型内的异常情况时,则称为“新着丝粒形成”。两者的特征都是功能着丝粒在染色体内的位置发生改变,而线性基因顺序没有随之改变。跨谱系的进化研究清楚地表明,着丝粒重新定位在核型进化中并非罕见事件,在研究染色体结构和同线顺序的进化时必须予以考虑。本文探讨了为解释哺乳动物着丝粒重新定位而提出的理论。这些理论根据人类研究中获得的证据以及我们从有袋类模型物种尤氏袋鼠(短尾矮袋鼠)提供的数据进行解读。