Genetically modified rodent models of SCA17

• Type of Material: Article
• Authors: Yiting Cui, Central South University; Su Yang, Emory University; Xiao-Jiang Li, Emory University; Shi Hua Li, Emory University
• Language: English
• Date: 2017-08-01
• Publisher: Wiley: 12 months
• Publication Version: Author Accepted Manuscript (After Peer Review)
• Copyright Statement: © 2016 Wiley Periodicals, Inc.
• Final Published Version (URL): http://dx.doi.org/10.1002/jnr.23984
• Title of Journal or Parent Work: Journal of Neuroscience Research
• ISSN: 0360-4012
• Volume: 95
• Issue: 8
• Start Page: 1540
• End Page: 1547
• Grant/Funding Information: This work was supported by the NIH (AG19206 and NS041449 to XJL, AG031153 and NS045016 to SHL).
• Keywords: Life Sciences & Biomedicine; Huntington disease-like 4; TATA-BINDING PROTEIN; SCA17; Science & Technology; Neurosciences & Neurology; HDL4; DOMINANT CEREBELLAR-ATAXIA; REPEAT EXPANSION; SPINOCEREBELLAR-ATAXIA-17 SCA17; TRINUCLEOTIDE REPEAT; DISEASE-LIKE PHENOTYPE; MICE; ANDROGEN RECEPTOR; EXPANDED POLYGLUTAMINE; spinocerebellar ataxia type 17; GENE; Neurosciences
• Research Categories: Biology, Genetics; Biology, Neuroscience

Abstract

Spinocerebellar ataxia type 17 (SCA17) is a type of autosomal dominant cerebellar ataxia (ADCA) characterized by variable manifestations, including cerebellar ataxia, dementia, and psychiatric symptoms. Since the identification of a CAG repeat expansion in the TATA-box binding protein (TBP) gene in a patient with ataxia in 1999 and then verification of this expansion in patients with SCA17 in 2001, several SCA17 rodent models, including both knock-in and transgenic models in mice and rats, have been established to explore the phenotypic features and pathogenesis of SCA17. These animal models revealed different pathological changes and phenotypes that are associated with the expression of mutant TBP protein and the CAG repeat lengths. It is important to understand how mutant TBP can cause differential pathological events in SCA17 animal models. In this review, we summarize and compare these animal models for the nature of transgenes and their expression as well as phenotypical features. We also discuss potential directions for future studies. © 2016 Wiley Periodicals, Inc.