Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35.
A 3.3-kb KpnI repeat unit within the tandem repeat locus (D4Z4) and its upstream 2.5-kb HincII/KpnI fragment of the facioscapulohumeral muscular dystrophy (FSHD) gene region at 4q35-qter were sequenced and characterized. The 3.3-kb KpnI 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 KpnI site.
Lee
J H
JH
National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
Goto
K
K
Matsuda
C
C
Arahata
K
K
D001483:Base Sequence; D002894:Chromosomes, Human, Pair 4; D004247:DNA / Q000235:genetics; D005145:Face; D005796:Genes; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D006811:Humerus; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D012540:Scapula
D018398:Homeodomain Proteins; D004247:DNA