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Expression, tandem repeat copy number variation and stability of four macrosatellite arrays in the human genome

dc.contributor.author Alexander, Graham, Jr
dc.date.accessioned 2011-06-21T17:29:34Z
dc.date.available 2011-06-21T17:29:34Z
dc.date.issued 2010
dc.identifier.citation Tremblay,Deanna C.;Alexander,Graham, Jr.;Moseley,Shawn;Chadwick,Brian P.. 2010. Expression, tandem repeat copy number variation and stability of four macrosatellite arrays in the human genome. Bmc Genomics 11( ): 632-632.
dc.identifier.issn 1471-2164
dc.identifier.uri http://hdl.handle.net/10161/4349
dc.description.abstract Background: Macrosatellites are some of the largest variable number tandem repeats in the human genome, but what role these unusual sequences perform is unknown. Their importance to human health is clearly demonstrated by the 4q35 macrosatellite D4Z4 that is associated with the onset of the muscle degenerative disease facioscapulohumeral muscular dystrophy. Nevertheless, many other macrosatellite arrays in the human genome remain poorly characterized. Results: Here we describe the organization, tandem repeat copy number variation, transmission stability and expression of four macrosatellite arrays in the human genome: the TAF11-Like array located on chromosomes 5p15.1, the SST1 arrays on 4q28.3 and 19q13.12, the PRR20 array located on chromosome 13q21.1, and the ZAV array at 9q32. All are polymorphic macrosatellite arrays that at least for TAF11-Like and SST1 show evidence of meiotic instability. With the exception of the SST1 array that is ubiquitously expressed, all are expressed at high levels in the testis and to a lesser extent in the brain. Conclusions: Our results extend the number of characterized macrosatellite arrays in the human genome and provide the foundation for formulation of hypotheses to begin assessing their functional role in the human genome.
dc.language.iso en_US
dc.publisher BIOMED CENTRAL LTD
dc.relation.isversionof 10.1186/1471-2164-11-632
dc.subject facioscapulohumeral muscular-dystrophy
dc.subject repetitive dna-sequence
dc.subject deubiquitinating enzyme
dc.subject candidate gene
dc.subject messenger-rna
dc.subject x-chromosome
dc.subject fshd
dc.subject family
dc.subject differentiation
dc.subject protein
dc.subject biotechnology & applied microbiology
dc.subject genetics & heredity
dc.title Expression, tandem repeat copy number variation and stability of four macrosatellite arrays in the human genome
dc.title.alternative
dc.type Other article
dc.description.version Version of Record
duke.date.pubdate 2010-11-15
duke.description.issue
duke.description.volume 11
dc.relation.journal Bmc Genomics
pubs.begin-page 632


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