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Characterization of a tandemly repeated 3.3‐kb Kpnl unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35
Author(s) -
Lee Je Hyeon,
Goto Kanako,
Matsuda Chie,
Arahata Kiichi
Publication year - 1995
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880181304
Subject(s) - facioscapulohumeral muscular dystrophy , genetics , locus (genetics) , biology , gene , microsatellite , chromosome , tandem repeat , microbiology and biotechnology , genome , allele
A 3.3kb Kpn l repeat unit within the tandem repeat locus (D4Z4) and its upstream 2.5‐kb Hinc ll/Kpn l fragment of the facioscapulohumeral muscular dystrophy (FSHD) gene region at 4q35‐qter were sequenced and characterized. The 3.3‐kb Kpn l unit was 3303 bp in length and contained two homeodomain sequences, one LSau‐like sequence, and several microsatellites. The GC content in the nonrepeated region of the 2.5‐kb fragment. We identified 99% homologous sequences (918 bp) in the 3′ end of the 3.3‐and 2.5‐kb fragments. These findings suggested that the repeated sequences at the D4Z4 start from 918 bp upstream to the first Kpn l site. © 1995 John Wiley & Sons, Inc.