Eichler Evan E, DeJong Pieter J
Department of Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA.
Genome Res. 2002 May;12(5):673-8. doi: 10.1101/gr.250102.
The anticipated completion of two of the most biomedically relevant genomes, mouse and human, within the next three years provides an unparalleled opportunity for the large-scale exploration of genome evolution. Targeted sequencing of genomic regions in a panel of primate species and comparison to reference genomes will provide critical insight into the nature of single-base pair variation, mechanisms of chromosomal rearrangement, patterns of selection, and species adaptation. Although not recognized as model "genetic organisms" because of their longevity and low fecundity, 30 of the approximately 300 primate species are targets of biomedical research. The existence of a human reference sequence and genomic primate BAC libraries greatly facilitates the recovery of genes/genomic regions of high biological interest because of an estimated maximum neutral nucleotide sequence divergence of 25%. Primate species, therefore, may be regarded as the ideal model "genomic organisms". Based on existing BAC library resources, we propose the construction of a panel of primate BAC libraries from phylogenetic anchor species for the purpose of comparative medicine as well as studies of genome evolution.
预计在未来三年内完成两个与生物医学最相关的基因组,即小鼠和人类基因组,这为大规模探索基因组进化提供了无与伦比的机会。对一组灵长类物种的基因组区域进行靶向测序,并与参考基因组进行比较,将为单碱基对变异的本质、染色体重排机制、选择模式和物种适应性提供关键见解。尽管由于寿命长和繁殖力低,约300种灵长类物种中的30种未被视为典型的“遗传生物”,但它们却是生物医学研究的对象。人类参考序列和基因组灵长类BAC文库的存在极大地促进了对具有高度生物学意义的基因/基因组区域的回收,因为估计最大中性核苷酸序列差异为25%。因此,灵长类物种可被视为理想的典型“基因组生物”。基于现有的BAC文库资源,我们提议构建一组来自系统发育锚定物种的灵长类BAC文库,用于比较医学以及基因组进化研究。