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

Journal of Molecular Biology
B Burwinkel, M W Kilimann

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 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.

References

Sep 11, 1991·Nucleic Acids Research·D J KaplanC H Duncan
Aug 15, 1991·Proceedings of the National Academy of Sciences of the United States of America·D H FitchJ L Slightom
Feb 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·N KatzirD Givol
Nov 1, 1987·British Journal of Haematology·J G Gilman
Feb 24, 1995·Journal of Molecular Biology·A F SmitJ Jurka
Feb 1, 1993·Annals of Medicine·D N Cooper
Jun 1, 1996·European Journal of Biochemistry·A Wüllrich-Schmoll, M W Kilimann
Dec 1, 1996·Current Opinion in Genetics & Development·A F Smit
Mar 1, 1997·Human Genetics·M FicheraA Ragusa
May 1, 1997·Nature Genetics·J D Boeke
May 1, 1997·Nature Genetics·D M SassamanH H Kazazian

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Citations

Nov 28, 2008·Proceedings of the National Academy of Sciences of the United States of America·Kyudong HanMark A Batzer
Dec 6, 2008·Proceedings of the National Academy of Sciences of the United States of America·Richard Cordaux
Feb 24, 2000·Nucleic Acids Research·E M OstertagH H Kazazian
May 24, 2001·Molecular Biology and Evolution·S BoissinotA V Furano
Mar 27, 2001·Evolution; International Journal of Organic Evolution·M G Kidwell, D R Lisch
Aug 1, 2006·Journal of Biomedicine & Biotechnology·Harris S Soifer
Aug 1, 2006·Journal of Biomedicine & Biotechnology·Todd Graham, Stephane Boissinot
Aug 12, 2005·Cytogenetic and Genome Research·S Boissinot, A V Furano
Jul 24, 2010·BMC Evolutionary Biology·Mineyo IwaseNaoyuki Takahata
Aug 9, 2007·BMC Genomics·Timothy J D GoodwinRussell T M Poulter
Dec 20, 2008·BMC Genomics·Vini Pereira
Jan 5, 2013·Mobile DNA·Akash SookdeoStéphane Boissinot
Oct 1, 2009·Genetics and Molecular Biology·Xiu-Fang WangZhanjun Lu
Jun 27, 2014·PLoS Genetics·Lei YangHolly Wichman
May 16, 2007·Proceedings of the National Academy of Sciences of the United States of America·Marina ElezIvan Matic
Aug 2, 2011·Annual Review of Genomics and Human Genetics·Christine R BeckJohn V Moran
May 7, 2010·Proceedings of the National Academy of Sciences of the United States of America·John C Avise
Oct 13, 2012·Annual Review of Cell and Developmental Biology·Charles A ThomasAlysson R Muotri
Nov 9, 2001·Annual Review of Genetics·E M Ostertag, H H Kazazian
Mar 14, 2013·Mobile Genetic Elements·Massimo IorizzoPhilipp Simon
Jan 24, 2015·Nucleic Acids Research·Michał StartekAnna Gambin
Jul 5, 2007·Molecular Genetics and Genomics : MGG·Anu SironenBo Thomsen
Feb 7, 2008·Archives of Toxicology·Andrea R Florl, Wolfgang A Schulz
Mar 20, 2001·Nature Reviews. Genetics·E T Prak, H H Kazazian
Jul 11, 2018·Cytogenetic and Genome Research·Akash SookdeoStéphane Boissinot
Aug 24, 2017·PloS One·Dennis K LanningKatherine L Knight
Feb 6, 2019·International Journal of Molecular Sciences·Tomoyuki Honda, Md Arifur Rahman
Jun 4, 2005·Human Genetics·Michael WirtenbergerBarbara Burwinkel

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