The Molecular Basis of Spinocerebellar Ataxia Type 7

Spinocerebellar ataxia (SCA) type 7 (SCA7) is caused by a CAG trinucleotide repeat expansion in the ataxin 7 ( ATXN7 ) gene, which results in polyglutamine expansion at the amino terminus of the ATXN7 protein. Although ATXN7 is expressed widely, the best characterized symptoms of SCA7 are remarkably...

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Published in:Frontiers in neuroscience Vol. 16; p. 818757
Main Authors: Goswami, Rituparna, Bello, Abudu I., Bean, Joe, Costanzo, Kara M., Omer, Bwaar, Cornelio-Parra, Dayanne, Odah, Revan, Ahluwalia, Amit, Allan, Shefaa K., Nguyen, Nghi, Shores, Taylor, Aziz, N. Ahmad, Mohan, Ryan D.
Format: Journal Article
Language:English
Published: Switzerland Frontiers Media S.A 24.03.2022
Subjects:
ATXN7
deubiquitination
Neuroscience
polyglutamine expansion
SAGA complex
USP22
deubiquitination
ATXN7
polyglutamine expansion
SAGA complex
USP22
ISSN:1662-453X, 1662-4548, 1662-453X
Online Access:Get full text
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Summary:Spinocerebellar ataxia (SCA) type 7 (SCA7) is caused by a CAG trinucleotide repeat expansion in the ataxin 7 ( ATXN7 ) gene, which results in polyglutamine expansion at the amino terminus of the ATXN7 protein. Although ATXN7 is expressed widely, the best characterized symptoms of SCA7 are remarkably tissue specific, including blindness and degeneration of the brain and spinal cord. While it is well established that ATXN7 functions as a subunit of the Spt Ada Gcn5 acetyltransferase (SAGA) chromatin modifying complex, the mechanisms underlying SCA7 remain elusive. Here, we review the symptoms of SCA7 and examine functions of ATXN7 that may provide further insights into its pathogenesis. We also examine phenotypes associated with polyglutamine expanded ATXN7 that are not considered symptoms of SCA7.
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Reviewed by: Carlo Rinaldi, University of Oxford, United Kingdom; Mai ElMallah, Duke University, United States
Edited by: Barrington G. Burnett, Uniformed Services University of the Health Sciences, United States
This article was submitted to Neurodegeneration, a section of the journal Frontiers in Neuroscience
These authors have contributed equally to this work
ISSN:1662-453X
1662-4548
1662-453X
DOI:10.3389/fnins.2022.818757