title: Characterization of a tandemly repeated 3.3-kb Kpnl unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35.
abstract: A 3.3-kb Kpnl repeat unit within the tandem repeat locus (D4Z4) and its upstream 2.5-kb Hincll/Kpnl fragment of the facioscapulohumeral muscular dystrophy (FSHD) gene region at 4q35-qter were sequenced and characterized. The 3.3-kb Kpnl unit was 3303 bp in length and contained two homeodomain sequences, one LSau-like sequence, and several microsatellites. The GC content in the 3.3-kb unit was very high (73%), while it was only 35% 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 Kpnl site.
authors.affiliation: National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan.
authors.forename: J H
authors.initials: JH
authors.lastname: Lee
authors.forename: K
authors.initials: K
authors.lastname: Goto
authors.forename: C
authors.initials: C
authors.lastname: Matsuda
authors.forename: K
authors.initials: K
authors.lastname: Arahata
mesh_terms: D022004:Chromosome Structures; D002894:Chromosomes, Human, Pair 4; D005801:Genes, Homeobox; D006801:Humans; D009136:Muscular Dystrophies / Q000235:genetics; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics; D016615:Telomere