title: Clustering of CMT1A duplication breakpoints in a 700 bp interval of the CMT1A-REP repeat.
abstract: The CMT1A-REP repeat is proposed to mediate unequal crossover leading to a 1.5 Mb duplication in chromosome 17p11.2-12 associated with Charcot-Marie-Tooth neuropathy type 1A (CMT1A). There is an apparent recombinational "hotspot" in the CMT1A-REP repeat since the majority of crossover breakpoints for CMT1A are located within a 1.7 kb interval. Further to characterize the crossover breakpoint region, we constructed PCR primers that specifically amplify the duplication breakpoint junctions in a series of Japanese and Caucasian CMT1A patients. We mapped the breakpoints in 89% of patients within a 700 bp interval of the CMT1A-REP repeat. This 700 bp region is 1.3 kb telomeric to a previously described mariner-like transposable element. Our observations further define the location of crossovers for CMT1A and provide additional evidence that this region is a recombinational "hotspot" within the CMT1A-REP repeat.
authors.affiliation: Department of Neurology, Nagoya University School of Medicine, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Yamamoto
authors.forename: M P
authors.initials: MP
authors.lastname: Keller
authors.forename: T
authors.initials: T
authors.lastname: Yasuda
authors.forename: K
authors.initials: K
authors.lastname: Hayasaka
authors.forename: A
authors.initials: A
authors.lastname: Ohnishi
authors.forename: H
authors.initials: H
authors.lastname: Yoshikawa
authors.forename: T
authors.initials: T
authors.lastname: Yanagihara
authors.forename: T
authors.initials: T
authors.lastname: Mitsuma
authors.forename: P F
authors.initials: PF
authors.lastname: Chance
authors.forename: G
authors.initials: G
authors.lastname: Sobue
mesh_terms: D044466:Asian People; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D019457:Chromosome Breakage / Q000235:genetics*; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D004252:DNA Mutational Analysis; D006801:Humans; D005810:Multigene Family / Q000235:genetics*; D011995:Recombination, Genetic / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D044465:White People