Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease.

@article{Burwinkel1998UnequalHR,
  title={Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease.},
  author={Barbara Burwinkel and Manfred W Kilimann},
  journal={Journal of molecular biology},
  year={1998},
  volume={277 3},
  pages={513-7}
}
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… CONTINUE READING