Article
The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure.
BMC medical genetics - 2 Mar 2007
Rossi Monica, Ricci Enzo, Colantoni Luca, Galluzzi Giuliana, Frusciante Roberto, Tonali Pietro A, Felicetti Luciano
Abstract excerpt
BACKGROUND: The homologous 4q and 10q subtelomeric regions include two distinctive polymorphic arrays of 3.3 kb repeats, named D4Z4. An additional BlnI restriction site on the 10q-type sequence allows to distinguish the chromosomal origin of the repeats. Reduction in the number of D4Z4 repeats below a threshold of 10 at the 4q locus is tightly linked to Facioscapulohumeral Muscular Dystrophy (FSHD), while similar...
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