Please use this identifier to cite or link to this item: http://hdl.handle.net/1822/5333

TitleGenomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado–Joseph disease (MJD) gene
Author(s)Costa, Maria do Carmo
Silva, Joana Gomes da
Miranda, Carlos J.
Sequeiros, Jorge
Santos, Manuela M.
Maciel, P.
KeywordsAtaxin-3
Polyglutamine
Spinocerebellar ataxia
Triplet repeat
Muscle
Myocytes
MyoD
E47
Max
Arnt
Amt
Issue date2004
PublisherAcademic Press
JournalGenomics
Citation"Genomics". ISSN 0888-7543. 84 (2004) 361-373.
Abstract(s)Machado–Joseph disease (MJD) is a neurodegenerative disorder, caused by the expansion of the (CAG)n tract in the MJD gene. This encodes the protein ataxin-3, of unknown function. The mouse Mjd gene has a structure similar to that of its human counterpart and it also contains a TATA-less promoter. Its 5V flanking region contains conserved putative binding regions for transcription factors Sp1, USF, Arnt, Max, E47, and MyoD. Upon differentiation of P19 cells, the Mjd gene promoter is preferentially activated in endodermal and mesodermal derivatives, including cardiac and skeletal myocytes; and less so in neuronal precursors. Mouse ataxin-3 is ubiquitously expressed during embryonic development and in the adult, with strong expression in regions of the CNS affected in MJD. It is particularly abundant in all types of muscle and in ciliated epithelial cells, suggesting that it may be associated with the cytoskeleton and may have an important function in cell structure and/or motility.
TypeArticle
URIhttp://hdl.handle.net/1822/5333
DOI10.1016/j.ygeno.2004.02.012
ISSN0888-7543
Publisher versionhttp://www.elsevier.com/wps/find/journaldescription.cws_home/622838/description#description
Peer-Reviewedyes
AccessOpen access
Appears in Collections:ICVS - Artigos em Revistas Internacionais com Referee

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