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- W2055873867 abstract "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 β 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." @default.
- W2055873867 created "2016-06-24" @default.
- W2055873867 creator A5037104587 @default.
- W2055873867 creator A5070853048 @default.
- W2055873867 date "1998-04-01" @default.
- W2055873867 modified "2023-09-28" @default.
- W2055873867 title "Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease 1 1Edited by J. Karn" @default.
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- W2055873867 doi "https://doi.org/10.1006/jmbi.1998.1641" @default.
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