Macey J R, Schulte J A, Larson A, Papenfuss T J
Department of Biology, Washington University, St. Louis, Missouri 63130, USA.
Mol Biol Evol. 1998 Jan;15(1):71-5. doi: 10.1093/oxfordjournals.molbev.a025849.
A tandem duplication of the mitochondrial tRNA(Thr) and tRNA(Pro) genes in the amphisbaenian reptile Bipes biporus is the first case reported of a tandem duplication restricted to a single pair of tRNA genes in a vertebrate mitochondrial genome. Such duplications have been predicted, however, as intermediate steps in the evolution of observed mitochondrial genomic rearrangements through errors in light-strand replication. The tandem duplication reported here is evolutionarily associated with displacement of the origin for light-strand replication from its typical location in vertebrate mitochondrial genomes and loss of the dihydrouridine stem from the tRNA(Cys) gene; these factors implicate light-strand replicational errors in the tandem duplication of genic regions. Pseudogene formation in tandemly duplicated sequences appears to be an intermediate step in genomic rearrangement. However, formation of pseudogenes in the Bipes mitochondrial genome occurs in a pattern that precludes subsequent genomic rearrangement. Functional constraints placed on cleavage of mitochondrial transcripts by tRNA genes also may prevent mitochondrial genomic rearrangement.
蚓蜥类爬行动物双足蚓蜥(Bipes biporus)线粒体tRNA(苏氨酸)和tRNA(脯氨酸)基因的串联重复是脊椎动物线粒体基因组中首例报道的仅限于一对tRNA基因的串联重复。然而,此类重复已被预测为通过轻链复制错误导致观察到的线粒体基因组重排进化过程中的中间步骤。此处报道的串联重复在进化上与轻链复制起点从其在脊椎动物线粒体基因组中的典型位置移位以及tRNA(半胱氨酸)基因中二氢尿苷茎的丢失相关;这些因素表明基因区域的串联重复涉及轻链复制错误。串联重复序列中的假基因形成似乎是基因组重排的中间步骤。然而,双足蚓蜥线粒体基因组中假基因的形成模式排除了随后的基因组重排。tRNA基因对线粒体转录本切割所施加的功能限制也可能阻止线粒体基因组重排。