克隆的人类卫星DNA的序列分析揭示了非随机变异。

Sequence analysis of cloned human satellite DNAs reveals nonrandom variations.

作者信息

Sol K, DuBow M S

机构信息

Department of Microbiology and Immunology, McGill University, Montréal, Que., Canada.

出版信息

Genome. 1993 Apr;36(2):334-42. doi: 10.1139/g93-046.

DOI:10.1139/g93-046

PMID:8514158

Abstract

We have cloned, from the genome of HeLa cells, related 1.8-kb highly repetitive EcoRI satellite II (and III) DNA family members that displayed a high degree of TaqI and HinfI variations. Comparative sequence analysis of these cloned DNAs suggests that highly repetitive satellite DNAs may have evolved and diversified from the rapid amplification of a pentameric unit (5' TTCCA 3'), by processes including random and non-random mutations. Base conservation, as well as mutational hotspots, were found associated with these related satellite II and III DNAs. The accumulation of C to G transversions within the pentamers, generating TaqI and HinfI sites, as well as C to T transitions at CpN dinucleotides, appear to be responsible for much of the microheterogeneity observed between related satellite II and III DNA family members.

摘要

我们从HeLa细胞基因组中克隆出了相关的1.8kb高度重复的EcoRI卫星II（和III）DNA家族成员，这些成员显示出高度的TaqI和HinfI变异。对这些克隆DNA的比较序列分析表明，高度重复的卫星DNA可能通过包括随机和非随机突变在内的过程，从一个五聚体单元（5'TTCCA 3'）的快速扩增中进化和多样化。发现碱基保守性以及突变热点与这些相关的卫星II和III DNA有关。五聚体内C到G的颠换积累，产生TaqI和HinfI位点，以及CpN二核苷酸处的C到T转换，似乎是相关卫星II和III DNA家族成员之间观察到的许多微异质性的原因。