这项工作的重点是LINE-1(一种长散布的核元素)在灵长类动物中的分布及其在进化过程中的作用,以及作为灵长类动物基因组结构的组成部分。为了确定LINE-1重复分布及其在灵长类动物中的作用,LINE-1探针被定位到智人的染色体上(人科,卡塔瑞尼),Sapajusapella,和Cebuscapucinus(Cebidae,Platyrhini)使用荧光原位杂交(FISH)。之所以选择platyrrhine物种,是因为它们是以高度重排为特征的分类单元;因此,它们可能是研究LINE-1和染色体进化的有用模型。在几乎所有近核染色体16-22的着丝粒和一些双臂染色体上的两个Cebidae中发现了LINE-1积累。LINE-1模式在这两个物种中相似,但仅在6、8、10和18号染色体中相似,这是由于染色体内重排与先前通过g条带假设的结果一致。在人类的1、8、9、13-15和X染色体上发现了LINE-1间质积累;在染色体8、9和13-15上,信号也在着丝粒位置。这与人类8号染色体和一些近端基染色体的最新完整分子序列分析一致。因此,讨论了关于LINE-1和着丝粒之间的联系以及与重排的联系的假设。的确,数据分析使我们支持LINE-1与染色体间和染色体内重排之间的联系,以及LINE-1与灵长类着丝粒结构功能之间的联系。
This work focuses on the distribution of LINE-1 (a Long Interspersed Nuclear Element) in primates and its role during evolution and as a constituent of the architecture of primate genomes. To pinpoint the LINE-1 repeat distribution and its role among primates, LINE-1 probes were mapped onto chromosomes of Homo sapiens (Hominidae, Catarrhini), Sapajus apella, and Cebus capucinus (Cebidae, Platyrrhini) using fluorescence in situ hybridisation (FISH). The choice of platyrrhine species are due to the fact they are taxa characterised by a high level of rearrangements; for this reason, they could be a useful model for the study of LINE-1 and chromosome evolution. LINE-1 accumulation was found in the two Cebidae at the centromere of almost all acrocentric chromosomes 16-22 and on some bi-armed chromosomes. LINE-1 pattern was similar in the two species but only for chromosomes 6, 8, 10, and 18, due to intrachromosomal rearrangements in agreement with what was previously hypothesised as through g banding. LINE-1 interstitial accumulation was found in humans on the 1, 8, 9, 13-15, and X chromosomes; on chromosomes 8, 9, and 13-15, the signal was also at the centromeric position. This is in agreement with recent and complete molecular sequence analysis of human chromosomes 8 and some acrocentric ones. Thus, the hypothesis regarding a link between LINE-1 and centromeres as well as a link with rearrangements are discussed. Indeed, data analysis leads us to support a link between LINE-1 and inter- and intrachromosomal rearrangements, as well as a link between LINE-1 and structural functions at centromeres in primates.