Burwinkel B, Kilimann M W
Institut für Physiologische Chemie, Medizinische Fakultät, Ruhr-Universität Bochum, Bochum, D-44780, Germany.
J Mol Biol. 1998 Apr 3;277(3):513-7. doi: 10.1006/jmbi.1998.1641.
Unequal homologous recombination between repetitive genetic elements is one mechanism that mediates genome instability. We have characterized a homologous recombination event between two neighboring LINE-1 sequences in the human gene encoding the beta subunit of phosphorylase kinase (PHKB). It has lead to the deletion of 7574 nucleotides of genomic DNA including exon 8 of this gene, giving rise to glycogen storage disease through phosphorylase kinase deficiency. To our knowledge, this is the first example of a mutation due to unequal homologous recombination between LINE-1 elements. The sequence features of the recombining LINE-1 elements and of the recombination junction site, and possible reasons for the more frequent occurrence of unequal homologous recombination between Alu elements are discussed.
重复遗传元件之间的不等位同源重组是介导基因组不稳定的一种机制。我们已经对人类磷酸化酶激酶（PHKB）β亚基编码基因中两个相邻的LINE-1序列之间的同源重组事件进行了表征。它导致了7574个核苷酸的基因组DNA缺失，包括该基因的外显子8，通过磷酸化酶激酶缺乏引起糖原贮积病。据我们所知，这是LINE-1元件之间不等位同源重组导致突变的首个例子。文中讨论了重组LINE-1元件和重组连接位点的序列特征，以及Alu元件之间不等位同源重组更频繁发生的可能原因。
