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Clustering of CMT1A duplication breakpoints in a 700 bp interval of the CMT1A‐REP repeat
Author(s) -
Yamamoto Masahiko,
Keller Marcel P.,
Yasuda Takeshi,
Hayasaka Kiyoshi,
Ohnishi Akio,
Yoshikawa Hiroo,
Yanagihara Takehiko,
Mitsuma Terunori,
Chance Phillip F.,
Sobue Gen
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1998)11:2<109::aid-humu2>3.0.co;2-e
Subject(s) - breakpoint , biology , gene duplication , genetics , transposable element , chromosome , gene , genome
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. Hum Mutat 11:109–113, 1998. © 1998 Wiley‐Liss, Inc.