Genomic rearrangements play a major role in the pathogenesis of human genetic diseases. Nonallelic homologous recombination (NAHR) between low-copy repeats (LCRs) that flank unique genomic segments results in changes of genome organization and can cause a loss or gain of genomic segments. These LCRs appear to have arisen recently during primate speciation via paralogous segmental duplication, thus making the human species particularly susceptible to genomic rearrangements. Genomic disorders are defined as a group of diseases that result from genomic rearrangements, mostly mediated by NAHR. Molecular investigations of genomic disorders have revealed genome architectural features associated with susceptibility to rearrangements and the recombination mechanisms responsible for such rearrangements. The human genome sequence project reveals that LCRs may account for 5% of the genome, suggesting that many novel genomic disorders might still remain to be recognized.

中文翻译：

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基因组疾病的分子机制。

基因组重排在人类遗传疾病的发病机理中起着重要作用。独特基因组片段侧翼的低拷贝重复序列（LCR）之间的非等位同源重组（NAHR）导致基因组组织的变化，并可能导致基因组片段的丢失或获得。这些LCR似乎是最近在灵长类动物物种中通过旁系节段复制而出现的，因此使人类物种特别容易受到基因组重排的影响。基因组疾病被定义为由基因组重排（主要由NAHR介导）导致的一组疾病。对基因组疾病的分子研究表明，基因组的结构特征与重排敏感性以及引起这种重排的重组机制有关。