Linked Life Data

11311558

Source:http://linkedlifedata.com/resource/pubmed/id/11311558

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2001-4-20
pubmed:abstractText
Spinocerebellar ataxia 2 (SCA-2) is a neurodegenerative disorder caused by the expansion of an unstable CAG/polyglutamine repeat located at the NH(2)-terminus of ataxin-2 protein. Ataxin-2 is composed by 1312 aminoacids and it is expressed ubiquitously in human tissues. To date, the function of ataxin-2 is not known. In this study, we report the characterization of an alternative splice variant of human ataxin-2. The splice transcript lacks the exon 21 and connects exon 20 to exon 22 with the same reading frame of the full length mRNA. This novel isoform of ataxin-2 is conserved in the mouse. It is named type IV to differentiate it from type II splice variant lacking exon 10 (present in human and mouse cDNAs) and from type III, lacking exon 10 and exon 11 seen in mouse. Type IV of human ataxin-2 cDNA is predicted to encode a protein of 1294 residues. Both the full length and the type IV transcript of ataxin-2 are present in several human tissues, including brain, spinal cord, cerebellum, heart and placenta. These findings allow the hypothesis that type I, II and IV of human ataxin-2 might perform different functions.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0378-1119
pubmed:author
pubmed:issnType
Print
pubmed:day
4
pubmed:volume
267
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
89-93
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
Identification of alternative splicing of spinocerebellar ataxia type 2 gene.
pubmed:affiliation
Centro di Endocrinologia ed Oncologia Sperimentale (C.E.O.S.) del C.N.R., c/o Dipartimento di Biologia e Patologia Cellulare e Molecolare, Universita di Napoli 'Federico II', Via Pansini 5, I-80131, Napoli, Italy.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't