A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element

Nature Genetics
L T ReiterJ R Lupski

Abstract

The Charcot-Marie Tooth disease type 1A (CMT1A) duplication and hereditary neuropathy with liability to pressure palsies (HNPP) deletion are reciprocal products of an unequal crossing-over event between misaligned flanking CMT1A-REP repeats. The molecular aetiology of this apparently homologous recombination event was examined by sequencing the crossover region. Through the detection of novel junction fragments from the recombinant CMT1A-REPs in both CMT1A and HNPP patients, a 1.7-kb recombination hotspot within the approximately 30-kb CMT1A-REPs was identified. This hotspot is 98% identical between CMT1A-REPs indicating that sequence identity is not likely the sole factor involved in promoting crossover events. Sequence analysis revealed a mariner transposon-like element (MITE) near the hotspot which we hypothesize could mediate strand exchange events via cleavage by a transposase at or near the 3' end of the element.

References

Dec 15, 1991·Proceedings of the National Academy of Sciences of the United States of America·E C Uberbacher, R J Mural
May 1, 1991·Genetics·A B MetzenbergO Smithies
Oct 5, 1990·Journal of Molecular Biology·S F AltschulD J Lipman
Nov 1, 1986·Proceedings of the National Academy of Sciences of the United States of America·J W JacobsonD L Hartl
Jan 11, 1984·Nucleic Acids Research·J DevereuxO Smithies
Dec 14, 1995·Nature·T OosumiB Garlick
Apr 1, 1994·Trends in Genetics : TIG·P I Patel, J R Lupski
Jan 1, 1994·Advances in Human Genetics·B B Roa, J R Lupski
Feb 24, 1995·Journal of Molecular Biology·A F SmitJ Jurka
Sep 1, 1993·The American Journal of Surgical Pathology·M C KinneyM E Kadin
Nov 1, 1993·Muscle & Nerve·V V IonasescuC Searby
Jan 1, 1993·American Journal of Medical Genetics·J R LupskiP I Patel
Dec 1, 1995·Human Molecular Genetics·H KiyosawaP F Chance
Feb 20, 1996·Proceedings of the National Academy of Sciences of the United States of America·A F Smit, A D Riggs

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Citations

Dec 1, 1996·Prenatal Diagnosis·S Malcolm
Oct 8, 1999·Muscle & Nerve·T MurakamiM Uchino
Jun 24, 1999·Genes, Chromosomes & Cancer·W G ScheurlenO A Haas
Aug 3, 2000·Muscle & Nerve·M Auer-GrumbachH P Hartung
Oct 28, 1996·Molecular & General Genetics : MGG·H M Robertson
Mar 15, 2005·Journal of Neurology·Wilson MarquesAmilton A Barreira
Oct 28, 2009·Human Genetics·Marc C LevesqueJ Brice Weinberg
Dec 12, 2012·Molecular Neurobiology·Jun LiJiasong Guo
Mar 26, 2004·Trends in Genetics : TIG·Mary Carrington, Michael Cullen
Jan 31, 2002·Trends in Genetics : TIG·Paweł Stankiewicz, James R Lupski
May 1, 1997·Trends in Genetics : TIG·D L HartlA R Lohe
Apr 1, 1997·Trends in Genetics : TIG·D Kipling, P E Warburton
Jun 17, 1999·Pediatric Neurology·N TachiS Chiba
Jun 22, 2002·Current Opinion in Genetics & Development·Pawel Stankiewicz, James R Lupski
Dec 1, 1996·Current Opinion in Genetics & Development·A F Smit
Aug 5, 1998·Current Opinion in Genetics & Development·Y JiangA L Beaudet
Jan 1, 1997·Neuromuscular Disorders : NMD·H GrehlB Neundörfer
Aug 3, 2007·Nature Clinical Practice. Neurology·Klaus-Armin NaveHannelore Ehrenreich
Mar 1, 1996·Nature Genetics·D L Hartl
Apr 1, 1996·Nature Genetics·H M RobertsonD L Hartl
Oct 19, 2007·Nature Reviews. Genetics·Beverly S Emanuel, Sulagna C Saitta
Feb 19, 2010·Nature Reviews. Molecular Cell Biology·Mariko SasakiScott Keeney
Apr 21, 2010·Proceedings of the National Academy of Sciences of the United States of America·Rita NeumannAlec J Jeffreys
Oct 1, 1996·Proceedings of the National Academy of Sciences of the United States of America·W L LamW Gilbert
Oct 10, 1997·Nucleic Acids Research·R F KettingR H Plasterk
Oct 10, 1997·Nucleic Acids Research·R RezsohazyR H Plasterk
Sep 1, 1996·Medicine·T MurakamiJ R Lupski

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