Characterization of a tandemly repeated 3.3-kb Kpnl unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35
✍ Scribed by Dr. Je Hyeon Lee; Ms. Kanako Goto; Dr. Chie Matsuda; Dr. Kiichi Arahata
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 769 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0148-639X
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✦ Synopsis
A 3.3-kb Kpnl repeat unit within the tandem repeat locus (D4Z4) and its upstream 2.5-kb HinclllKpnl 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 99Y0 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. o 1995 John Wiley & Sons, Inc.