Bacolla Albino, Wojciechowska Marzena, Kosmider Beata, Larson Jacquelynn E, Wells Robert D
Institute of Biosciences and Technology, Center for Genome Research, The Texas A&M University System Health Science Center, Texas Medical Center, 2121 West Holcombe Blvd., Houston, TX 77030, USA.
DNA Repair (Amst). 2006 Sep 8;5(9-10):1161-70. doi: 10.1016/j.dnarep.2006.05.032. Epub 2006 Jun 27.
Non-B DNA conformations adopted by certain types of DNA sequences promote genetic instabilities, especially gross rearrangements including translocations. We conclude the following: (a) slipped (hairpin) structures, cruciforms, triplexes, tetraplexes and i-motifs, and left-handed Z-DNA are formed in chromosomes and elicit profound genetic consequences via recombination-repair, (b) repeating sequences, probably in their non-B conformations, cause gross genomic rearrangements (translocations, deletions, insertions, inversions, and duplications), and (c) these rearrangements are the genetic basis for numerous human diseases including polycystic kidney disease, adrenoleukodystrophy, follicular lymphomas, and spermatogenic failure.
某些类型的DNA序列所采用的非B型DNA构象会促进基因不稳定，尤其是包括易位在内的大规模重排。我们得出以下结论：(a) 滑链（发夹）结构、十字形结构、三链体、四链体和i-基序以及左手Z-DNA在染色体中形成，并通过重组修复引发深远的遗传后果；(b) 重复序列可能以其非B型构象导致大规模基因组重排（易位、缺失、插入、倒位和重复）；(c) 这些重排是包括多囊肾病、肾上腺脑白质营养不良、滤泡性淋巴瘤和生精障碍在内的众多人类疾病的遗传基础。
