RGD Reference Report - SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. - Rat Genome Database

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SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein.

Authors: Nakamura, K  Jeong, SY  Uchihara, T  Anno, M  Nagashima, K  Nagashima, T  Ikeda, S  Tsuji, S  Kanazawa, I 
Citation: Nakamura K, etal., Hum Mol Genet. 2001 Jul 1;10(14):1441-8.
RGD ID: 5684015
Pubmed: PMID:11448935   (View Abstract at PubMed)

Genetic etiologies of at least 20% of autosomal dominant cerebellar ataxias (ADCAs) have yet to be clarified. We identified a novel spinocerebellar ataxia (SCA) form in four Japanese pedigrees which is caused by an abnormal CAG expansion in the TATA-binding protein (TBP) gene, a general transcription initiation factor. Consequently, it has been added to the group of polyglutamine diseases. This abnormal expansion of glutamine tracts in TBP bears 47--55 repeats, whereas the normal repeat number ranges from 29 to 42. Immunocytochemical examination of a postmortem brain which carried 48 CAG repeats detected neuronal intranuclear inclusion bodies that stained with anti-ubiquitin antibody, anti-TBP antibody and with the 1C2 antibody that recognizes specifically expanded pathological polyglutamine tracts. We therefore propose that this new disease be called SCA17 (TBP disease).

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Spinocerebellar Ataxias onsetIAGP 5684015DNA:repeat:cds:g.172(CAG/CAA)47-55 (human)RGD 
Spinocerebellar Ataxias onsetISOTBP (Homo sapiens)5684015; 5684015DNA:repeat:cds:g.172(CAG/CAA)47-55 (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormal cerebellum morphology onsetIAGP 5684015DNA:repeat:cds:g.172(CAG/CAA)47-55RGD 
Objects Annotated

Genes (Rattus norvegicus)
Tbp  (TATA box binding protein)

Genes (Mus musculus)
Tbp  (TATA box binding protein)

Genes (Homo sapiens)
TBP  (TATA-box binding protein)


Additional Information