Kehrer-Sawatzki Hildegard, Cooper David N
Department of Human Genetics, University of Ulm, Ulm, Germany.
Hum Genet. 2007 Feb;120(6):759-78. doi: 10.1007/s00439-006-0270-6. Epub 2006 Oct 26.
The structural microheterogeneity evident between the human and chimpanzee genomes is quite considerable and includes inversions and duplications as well as deletions, ranging in size from a few base-pairs up to several megabases (Mb). Insertions and deletions have together given rise to at least 150 Mb of genomic DNA sequence that is either present or absent in humans as compared to chimpanzees. Such regions often contain paralogous sequences and members of multigene families thereby ensuring that the human and chimpanzee genomes differ by a significant fraction of their gene content. There is as yet no evidence to suggest that the large chromosomal rearrangements which serve to distinguish the human and chimpanzee karyotypes have influenced either speciation or the evolution of lineage-specific traits. However, the myriad submicroscopic rearrangements in both genomes, particularly those involving copy number variation, are unlikely to represent exclusively neutral changes and hence promise to facilitate the identification of genes that have been important for human-specific evolution.
人类和黑猩猩基因组之间明显的结构微观异质性相当显著，包括倒位、重复以及缺失，其大小范围从几个碱基对到几兆碱基（Mb）不等。与黑猩猩相比，人类基因组中插入和缺失共同产生了至少150 Mb的基因组DNA序列差异。这些区域通常包含旁系同源序列和多基因家族成员，从而确保人类和黑猩猩基因组在很大一部分基因内容上存在差异。目前尚无证据表明，用于区分人类和黑猩猩核型的大型染色体重排影响了物种形成或特定谱系性状的进化。然而，两个基因组中无数的亚微观重排，尤其是那些涉及拷贝数变异的重排，不太可能仅仅代表中性变化，因此有望促进对人类特异性进化中重要基因的识别。
