Taylor J S, Breden F
Department of Biological Sciences, Simon Fraser University, British Columbia, V5A 1S6, Canada.
Genetics. 2000 Jul;155(3):1313-20. doi: 10.1093/genetics/155.3.1313.
The standard slipped-strand mispairing (SSM) model for the formation of variable number tandem repeats (VNTRs) proposes that a few tandem repeats, produced by chance mutations, provide the "raw material" for VNTR expansion. However, this model is unlikely to explain the formation of VNTRs with long motifs (e.g., minisatellites), because the likelihood of a tandem repeat forming by chance decreases rapidly as the length of the repeat motif increases. Phylogenetic reconstruction of the birth of a mitochondrial (mt) DNA minisatellite in guppies suggests that VNTRs with long motifs can form as a consequence of SSM at noncontiguous repeats. VNTRs formed in this manner have motifs longer than the noncontiguous repeat originally formed by chance and are flanked by one unit of the original, noncontiguous repeat. SSM at noncontiguous repeats can therefore explain the birth of VNTRs with long motifs and the "imperfect" or "short direct" repeats frequently observed adjacent to both mtDNA and nuclear VNTRs.
用于可变数目串联重复序列(VNTRs)形成的标准滑链错配(SSM)模型提出,由偶然突变产生的少数串联重复序列为VNTR扩展提供了“原材料”。然而,该模型不太可能解释具有长基序的VNTRs(如小卫星)的形成,因为随着重复基序长度的增加,偶然形成串联重复序列的可能性会迅速降低。对孔雀鱼中线粒体(mt)DNA小卫星诞生的系统发育重建表明,具有长基序的VNTRs可作为非连续重复序列处SSM的结果而形成。以这种方式形成的VNTRs具有比最初偶然形成的非连续重复序列更长的基序,并且两侧各有一个原始非连续重复序列单元。因此,非连续重复序列处的SSM可以解释具有长基序的VNTRs的诞生以及在mtDNA和核VNTRs附近经常观察到的“不完美”或“短直接”重复序列。