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J Mol Biol. 1998 Apr 3;277(3):513-7.

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

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Institut für Physiologische Chemie, Medizinische Fakultät, Ruhr-Universität Bochum, Bochum, D-44780, Germany.


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.

[Indexed for MEDLINE]

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