Expression, tandem repeat copy number variation and stability of four macrosatellite arrays in the human genome
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.
Type
Other articleSubject
facioscapulohumeral muscular-dystrophyrepetitive dna-sequence
deubiquitinating enzyme
candidate gene
messenger-rna
x-chromosome
fshd
family
differentiation
protein
biotechnology & applied microbiology
genetics & heredity
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https://hdl.handle.net/10161/4349Published Version (Please cite this version)
10.1186/1471-2164-11-632Citation
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.
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