Charlesworth B, Langley C H, Stephan W
Genetics. 1986 Apr;112(4):947-62. doi: 10.1093/genetics/112.4.947.
We suggest hypotheses to account for two major features of chromosomal organization in higher eukaryotes. The first of these is the general restriction of crossing over in the neighborhood of centromeres and telomeres. We propose that this is a consequence of selection for reduced rates of unequal exchange between repeated DNA sequences for which the copy number is subject to stabilizing selection: microtubule binding sites, in the case of centromeres, and the short repeated sequences needed for terminal replication of a linear DNA molecule, in the case of telomeres. An association between proximal crossing over and nondisjunction would also favor the restriction of crossing over near the centromere. The second feature is the association between highly repeated DNA sequences of no obvious functional significance and regions of restricted crossing over. We show that highly repeated sequences are likely to persist longest (over evolutionary time) when crossing over is infrequent. This is because unequal exchange among repeated sequences generates single copy sequences, and a population that becomes fixed for a single copy sequence by drift remains in this state indefinitely (in the absence of gene amplification processes). Increased rates of exchange thus speed up the process of stochastic loss of repeated sequences.
我们提出一些假说来解释高等真核生物染色体组织的两个主要特征。其中第一个特征是在着丝粒和端粒附近交叉互换的普遍受限。我们认为,这是对重复DNA序列间不等交换速率降低进行选择的结果,这些重复DNA序列的拷贝数受到稳定选择:对于着丝粒而言,是微管结合位点;对于端粒而言,是线性DNA分子末端复制所需的短重复序列。近端交叉互换与不分离之间的关联也将有利于限制着丝粒附近的交叉互换。第二个特征是无明显功能意义的高度重复DNA序列与交叉互换受限区域之间的关联。我们表明,当交叉互换不频繁时,高度重复序列可能(在进化时间上)持续最长时间。这是因为重复序列之间的不等交换会产生单拷贝序列,并且通过漂变固定为单拷贝序列的群体将无限期地保持这种状态(在没有基因扩增过程的情况下)。因此,交换速率的增加会加速重复序列随机丢失的过程。