Wilkinson G S, Mayer F, Kerth G, Petri B
Department of Zoology, University of Maryland, College Park 20742, USA.
Genetics. 1997 Jul;146(3):1035-48. doi: 10.1093/genetics/146.3.1035.
Analysis of mitochondrial DNA control region sequences from 41 species of bats representing 11 families revealed that repeated sequence arrays near the tRNA-Pro gene are present in all vespertilionine bats. Across 18 species tandem repeats varied in size from 78 to 85 bp and contained two to nine repeats. Heteroplasmy ranged from 15% to 63%. Fewer repeats among heteroplasmic than homoplasmic individuals in a species with up to nine repeats indicates selection may act against long arrays. A lower limit of two repeats and more repeats among heteroplasmic than homoplasmic individuals in two species with few repeats suggests length mutations are biased. Significant regressions of heteroplasmy, theta and pi, on repeat number further suggest that repeat duplication rate increases with repeat number. Comparison of vespertilionine bat consensus repeats to mammal control region sequences revealed that tandem repeats of similar size, sequence and number also occur in shrews, cats and bighorn sheep. The presence of two conserved protein-binding sequences in all repeat units indicates that convergent evolution has occurred by duplication of functional units. We speculate that D-loop region tandem repeats may provide signal redundancy and a primitive repair mechanism in the event of somatic mutations to these binding sites.
对代表11个科的41种蝙蝠的线粒体DNA控制区序列进行分析后发现,所有蝙蝠科蝙蝠的tRNA-Pro基因附近均存在重复序列阵列。在18个物种中,串联重复序列的长度从78到85个碱基对不等,包含2到9个重复单元。异质性范围为15%至63%。在一个物种中,具有多达9个重复单元的异质个体中的重复单元比同质个体中的少,这表明选择可能对长阵列起作用。在两个重复单元较少的物种中,异质个体中的重复单元下限为2个,且比同质个体中的多,这表明长度突变存在偏差。异质性、θ和π与重复单元数量之间的显著回归进一步表明,重复单元的复制率随重复单元数量的增加而增加。将蝙蝠科蝙蝠的共有重复序列与哺乳动物控制区序列进行比较后发现,鼩鼱、猫和大角羊中也存在大小、序列和数量相似的串联重复序列。所有重复单元中都存在两个保守的蛋白质结合序列,这表明通过功能单元的复制发生了趋同进化。我们推测,D环区域串联重复序列可能提供信号冗余,并在这些结合位点发生体细胞突变时提供一种原始的修复机制。