Document Detail

Analysis of the organisation and localisation of the FSHD-associated tandem array in primates: implications for the origin and evolution of the 3.3 kb repeat family.
MedLine Citation:
PMID:  8781186     Owner:  NLM     Status:  MEDLINE    
The D4Z4 locus is a polymorphic tandem repeat sequence on human chromosome 4q35. This locus is implicated in the neuromuscular disorder facioscapulohumeral muscular dystrophy (FSHD). The majority of sporadic cases of FSHD are associated with de novo DNA deletions within D4Z4. However, it is still not known how this rearrangement causes FSHD. Although the repeat contains homeobox sequences, despite exhaustive searching, no transcript from this locus has been identified. Therefore, it has been proposed that the deletion may invoke a position effect on a nearby gene. In order to try to understand the role of the D4Z4 repeat in this disease, we decided to investigate its conservation in other species. In this study, the long-range organisation and localisation of loci homologous to D4Z4 were investigated in primates using Southern blot analysis, pulsed field gel electrophoresis and fluorescence in situ hybridisation. In humans, probes to D4Z4 identify, in addition to the 4q35 locus, a closely related tandem repeat at 10qter and many related repeat loci mapping to the acrocentric chromosomes; a similar pattern was seen in all the great apes. In Old World monkeys, however, only one locus was detected in addition to that on the homologue of human chromosome 4, suggesting that the D4Z4 locus may have originated directly from the progenitor locus. The finding that tandem arrays closely related to D4Z4 have been maintained at loci homologous to human chromosome 4q35-qter in apes and Old World monkeys suggests a functionally important role for these sequences.
L N Clark; U Koehler; D C Ward; J Wienberg; J E Hewitt
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Chromosoma     Volume:  105     ISSN:  0009-5915     ISO Abbreviation:  Chromosoma     Publication Date:  1996 Sep 
Date Detail:
Created Date:  1996-12-09     Completed Date:  1996-12-09     Revised Date:  2009-09-29    
Medline Journal Info:
Nlm Unique ID:  2985138R     Medline TA:  Chromosoma     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  180-9     Citation Subset:  IM    
School of Biological Sciences, 3.239 Stopford Building, The University of Manchester, Oxford Road, Manchester M13 9PT, UK.
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MeSH Terms
Base Sequence
Cercopithecidae / genetics
Chromosome Mapping
Conserved Sequence
Evolution, Molecular*
Hominidae / genetics
In Situ Hybridization, Fluorescence
Macaca / genetics
Macaca mulatta / genetics
Muscular Dystrophies / genetics*
Polymorphism, Genetic
Primates / genetics*
Repetitive Sequences, Nucleic Acid / genetics*
Sequence Homology, Nucleic Acid
Grant Support
//Wellcome Trust

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