ArticleAmerican journal of human genetics1996
Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A.Advances in bioinformatics · 2014Article
- Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients.Neural regeneration research · 2012Article
- Increased severity over generations of Charcot-Marie-Tooth disease type 1A.Journal of neurology · 2008Article
- 17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population.Journal of neurology · 2005Article
- Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.American journal of human genetics · 2003Article
- Mutational mechanisms of Williams-Beuren syndrome deletions.American journal of human genetics · 2003Article
- Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.American journal of human genetics · 2002Article
- The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.Genome research · 2001Article
- Unequal meiotic crossover: a frequent cause of NF1 microdeletions.American journal of human genetics · 2000Article
- Inherited neuropathies: from gene to disease.Brain pathology (Zurich, Switzerland) · 1999Review
- The M26 hotspot of Schizosaccharomyces pombe stimulates meiotic ectopic recombination and chromosomal rearrangements.Genetics · 1998Article
- Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients.American journal of human genetics · 1998Article
- Atypical hereditary neuropathy with liability to pressure palsies (HNPP): the value of direct DNA diagnosis.Journal of medical genetics · 1997Article
- Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A.American journal of human genetics · 1997Article
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10 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Charcot-Marie-Tooth type 1A (CMT1A) disease and hereditary neuropathy with liability to pressure palsies (HNPP) are autosomal dominant neuropathies, associated, respectively, with duplications and deletions of the same 1.5-Mb region on 17p11.2-p12. These two rearrangements are the reciprocal products of an unequal meiotic crossover between the two chromosome 17 homologues, caused by the misalignment of the CMT1A repeat sequences (CMT1A-REPs), the homologous sequences flanking the 1.5-Mb CMT1A/HNPP monomer unit. In order to map recombination breakpoints within the CMT1A-REPs, a 12.9-kb restriction map was constructed from cloned EcoRI fragments of the proximal and distal CMT1A-REPs. Only 3 of the 17 tested restriction sites were present in the proximal CMT1A-REP but absent in the distal CMT1A-REP, indicating a high degree of homology between these sequences. The rearrangements were mapped in four regions of the CMT1A-REPs by analysis of 76 CMT1A index cases and 38 HNPP patients, who where unrelated. A hot spot of crossover breakpoints, located in a 3.2-kb region, accounted for three-quarters of the rearrangements, detected after EcoRI/SacI digestion, by the presence of 3.2-kb and 7.8-kb junction fragments in CMT1A and HNPP patients, respectively. These junction fragments, which can be detected on classical Southern blots, permit molecular diagnosis. Other rearrangements can also be detected by gene dosage on the same Southern blots.
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