Eppig J T, Nadeau J H
Jackson Laboratory, Bar Harbor, ME 04609, USA.
Curr Opin Genet Dev. 1995 Dec;5(6):709-16. doi: 10.1016/0959-437x(95)80002-m.
Chromosomal rearrangements such as inversions and translocations have played an important role in defining genome organization in existing mammals. The number of rearrangements that have occurred since divergence from the 'primordial' mammal has been modest and the distribution of these rearrangements among chromosomes seems to be random. As a result, each mammalian species has a unique arrangement of conserved and disrupted chromosomal segments as compared to other mammalian species. Genes are excellent markers for these chromosomal segments because homologies can be detected in highly divergent species. By comparing the chromosomal location of homologous genes in different species, maps of conserved chromosomal segments can be obtained. These comparative maps can be used to predict gene locations in other species, identify candidate disease genes, characterize the genetic basis for complex traits, and find modulators of disease susceptibility. Equally important is the use of comparative maps for addressing questions about genome organization and evolution.
染色体重排,如倒位和易位,在确定现存哺乳动物的基因组组织方面发挥了重要作用。自与“原始”哺乳动物分化以来发生的重排数量不多,且这些重排在染色体间的分布似乎是随机的。因此,与其他哺乳动物物种相比,每个哺乳动物物种都有独特的保守和破坏的染色体片段排列。基因是这些染色体片段的优秀标记,因为在高度分化的物种中也能检测到同源性。通过比较不同物种中同源基因的染色体位置,可以获得保守染色体片段图谱。这些比较图谱可用于预测其他物种中的基因位置、识别候选疾病基因、表征复杂性状的遗传基础以及寻找疾病易感性的调节因子。同样重要的是,利用比较图谱来解决有关基因组组织和进化的问题。