Shimada M K, Kim C-G, Kitano T, Ferrell R E, Kohara Y, Saitou N
Division of Population Genetics, National Institute of Genetics, Mishima, Japan.
Cytogenet Genome Res. 2005;108(1-3):83-90. doi: 10.1159/000080805.
Chromosome rearrangement has been considered to be important in the evolutionary process. Here, we demonstrate the evolutionary relationship of the rearranged human chromosome 12 and the corresponding chromosome XII in apes (chimpanzee, bonobo, gorilla, orangutan, and gibbon) by examining PCR products derived from the breakpoints of inversions and by conducting shotgun sequencing of a gorilla fosmid clone containing the breakpoint and a "duplicated segment" (duplicon). We confirmed that a pair of 23-kb duplicons flank the breakpoints of inversions on the long and short arms of chimpanzee chromosome XII. Although only the 23-kb duplicon on the long arm of chimpanzee chromosome XII and its telomeric flanking sequence are found to be conserved among the hominoids (human, great apes, and gibbons), the duplicon on the short arm of chimpanzee chromosome XII is suggested to be the result of a duplication from that on the long arm. Furthermore, the shotgun sequencing of a gorilla fosmid indicated that the breakpoint on the long arm of the gorilla is located at a different position 1.9 kb from that of chimpanzee. The region is flanked by a sequence homologous to that of human chromosome 6q22. Our findings and sequence analysis suggest a close relationship between segmental duplication and chromosome rearrangement (or breakpoint of inversion) in Hominoidea. The role of the chromosome rearrangement in speciation is also discussed based on our new results.
染色体重排在进化过程中被认为是重要的。在此,我们通过检测源自倒位断点的聚合酶链反应(PCR)产物,并对包含该断点和一个“重复片段”(重复子)的大猩猩fosmid克隆进行鸟枪法测序,来证明重排后的人类12号染色体与猿类(黑猩猩、倭黑猩猩、大猩猩、猩猩和长臂猿)中相应的十二号染色体之间的进化关系。我们证实,一对23 kb的重复子位于黑猩猩十二号染色体长臂和短臂倒位断点的两侧。尽管在灵长类动物(人类、大猩猩和长臂猿)中,仅发现黑猩猩十二号染色体长臂上的23 kb重复子及其端粒侧翼序列是保守的,但黑猩猩十二号染色体短臂上的重复子被认为是来自长臂上重复子的复制结果。此外,对一个大猩猩fosmid的鸟枪法测序表明,大猩猩长臂上的断点位于与黑猩猩断点不同的位置,相差1.9 kb。该区域两侧是与人类6q22染色体同源的序列。我们的研究结果和序列分析表明,灵长类动物中节段性重复与染色体重排(或倒位断点)之间存在密切关系。基于我们的新结果,还讨论了染色体重排在物种形成中的作用。