Document Detail

The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes.
MedLine Citation:
PMID:  7490072     Owner:  NLM     Status:  MEDLINE    
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder that maps to human chromosome 4q35. FSHD is tightly linked to a polymorphic 3.3-kb tandem repeat locus, D4Z4. D4Z4 is a complex repeat: it contains a novel homeobox sequence and two other repetitive sequence motifs. In most sporadic FSHD cases, a specific DNA rearrangement, deletion of copies of the repeat at D4Z4, is associated with development of the disease. However, no expressed sequences from D4Z4 have been identified. We have previously shown that there are other loci similar to D4Z4 within the genome. In this paper we describe the isolation of two YAC clones that map to chromosome 14 and that contain multiple copies of a D4Z4-like repeat. Isolation of cDNA clones that map to the acrocentric chromosomes and Southern blot analysis of somatic cell hybrids show that there are similar loci on all of the acrocentric chromosomes. D4Z4 is a member of a complex repeat family, and PCR analysis of somatic cell hybrids shows an organization into distinct subfamilies. The implications of this work in relation to the molecular mechanism of FSHD pathogenesis is discussed. We propose the name 3.3-kb repeat for this family of repetitive sequence elements.
R Lyle; T J Wright; L N Clark; J E Hewitt
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genomics     Volume:  28     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1995 Aug 
Date Detail:
Created Date:  1996-01-03     Completed Date:  1996-01-03     Revised Date:  2009-09-29    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  389-97     Citation Subset:  IM    
School of Biological Sciences, University of Manchester, United Kingdom.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/L24543;  L32605;  L32606;  L32607;  M81228;  U18909;  U18910;  U18977
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MeSH Terms
Base Sequence
Chromosomes, Artificial, Yeast
Chromosomes, Human, Pair 14*
Cloning, Molecular
DNA Primers
Genes, Homeobox*
Molecular Sequence Data
Multigene Family
Muscular Dystrophies / genetics*
Repetitive Sequences, Nucleic Acid*
Grant Support
//Wellcome Trust
Reg. No./Substance:
0/DNA Primers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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