A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
- PMID: 8589720
- DOI: 10.1038/ng0396-288
A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
Erratum in
- Nat Genet 1998 Jul;19(3):303
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.
Comment in
-
The most unkindest cut of all.Nat Genet. 1996 Mar;12(3):227-9. doi: 10.1038/ng0396-227. Nat Genet. 1996. PMID: 8589708 No abstract available.
Similar articles
-
Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot.Hum Mol Genet. 1996 Jun;5(6):745-53. doi: 10.1093/hmg/5.6.745. Hum Mol Genet. 1996. PMID: 8776588
-
Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients.Am J Hum Genet. 1998 May;62(5):1023-33. doi: 10.1086/301827. Am J Hum Genet. 1998. PMID: 9545397 Free PMC article.
-
Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies.J Peripher Nerv Syst. 1999;4(2):117-22. J Peripher Nerv Syst. 1999. PMID: 10442687
-
Molecular mechanisms for CMT1A duplication and HNPP deletion.Ann N Y Acad Sci. 1999 Sep 14;883:22-35. Ann N Y Acad Sci. 1999. PMID: 10586226 Review.
-
Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy.Int J Neurol. 1991-1992;25-26:97-107. Int J Neurol. 1991. PMID: 11980069 Review.
Cited by
-
Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions.BMC Med Genet. 2006 Mar 2;7:18. doi: 10.1186/1471-2350-7-18. BMC Med Genet. 2006. PMID: 16512914 Free PMC article.
-
Chromosomal phenotypes and submicroscopic abnormalities.Hum Genomics. 2004 Jan;1(2):126-33. doi: 10.1186/1479-7364-1-2-126. Hum Genomics. 2004. PMID: 15601540 Free PMC article. Review.
-
The evolutionary origin of human subtelomeric homologies--or where the ends begin.Am J Hum Genet. 2002 Apr;70(4):972-84. doi: 10.1086/339768. Epub 2002 Mar 1. Am J Hum Genet. 2002. PMID: 11875757 Free PMC article.
-
Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.Am J Hum Genet. 1999 Apr;64(4):1076-86. doi: 10.1086/302343. Am J Hum Genet. 1999. PMID: 10090893 Free PMC article.
-
Human gene mutation in pathology and evolution.J Inherit Metab Dis. 2002 May;25(3):157-82. doi: 10.1023/a:1015621710660. J Inherit Metab Dis. 2002. PMID: 12137225 Review.
Publication types
MeSH terms
Substances
Associated data
- Actions
- Actions
- Actions
- Actions
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
