Nesbø C L, Arab M O, Jakobsen K S
Department of Biology, University of Oslo, Norway.
Genetics. 1998 Apr;148(4):1907-19. doi: 10.1093/genetics/148.4.1907.
The nucleotide sequence of the control region and flanking tRNA genes of perch (Perca fluviatilis) mtDNA was determined. The organization of this region is similar to that of other vertebrates. A tandem array of 10-bp repeats, associated with length variation and heteroplasmy was observed in the 5' end. While the location of the array corresponds to that reported in other species, the length of the repeated unit is shorter than previously observed for tandem repeats in this region. The repeated sequence was highly similar to the Mt5 element which has been shown to specifically bind a putative D-loop DNA termination protein. Of 149 perch analyzed, 74% showed length variation heteroplasmy. Single-cell PCR on oocytes suggested that the high level of heteroplasmy is passively maintained by maternal transmission. The array was also observed in the two other percid species, ruffe (Acerina cernua) and zander (Stizostedion lucioperca). The array and the associated length variation heteroplasmy are therefore likely to be general features of percid mtDNAs. Among the perch repeats, the mutation pattern is consistent with unidirectional slippage, and statistical analyses supported the notion that the various haplotypes are associated with different levels of heteroplasmy. The variation in array length among and within species is ascribed to differences in predicted stability of secondary structures made between repeat units.
测定了鲈鱼(河鲈)线粒体DNA控制区及侧翼tRNA基因的核苷酸序列。该区域的组织形式与其他脊椎动物相似。在5'端观察到一个与长度变异和异质性相关的10碱基重复序列串联阵列。虽然该阵列的位置与其他物种报道的一致,但重复单元的长度比该区域之前观察到的串联重复序列要短。该重复序列与Mt5元件高度相似,Mt5元件已被证明能特异性结合一种假定的D环DNA终止蛋白。在分析的149条鲈鱼中,74%表现出长度变异异质性。对卵母细胞进行的单细胞PCR表明,高水平的异质性通过母系遗传被动维持。在另外两种鲈科鱼类,即梅花鲈和梭鲈中也观察到了该阵列。因此,该阵列及相关的长度变异异质性可能是鲈科线粒体DNA的普遍特征。在鲈鱼的重复序列中,突变模式与单向滑动一致,统计分析支持了不同单倍型与不同水平异质性相关的观点。物种间和物种内阵列长度的差异归因于重复单元之间预测二级结构稳定性的差异。