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Author Notes:

Correspondence to: Shihua Li (E-mail address:sli@emory.edu) or Xiao‐Jiang Li (E-mail address:xli2@emory.edu), Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322.

Authors’ Contributions: Cui, Y and Yang, S drafted the manuscript, Li, X and Li, S reviewed and edited the manuscript.

We thank Xiangya Hospital for supporting Yiting Cui’s study at Emory University in the USA.

Conflict of Interest: The authors declare no conflict of interest.

Subjects:

Research Funding:

This work was supported by the NIH (AG19206 and NS041449 to XJL, AG031153 and NS045016 to SHL).

Keywords:

  • Science & Technology
  • Life Sciences & Biomedicine
  • Neurosciences
  • Neurosciences & Neurology
  • spinocerebellar ataxia type 17
  • SCA17
  • Huntington disease-like 4
  • HDL4
  • TATA-BINDING PROTEIN
  • DOMINANT CEREBELLAR-ATAXIA
  • DISEASE-LIKE PHENOTYPE
  • REPEAT EXPANSION
  • SPINOCEREBELLAR-ATAXIA-17 SCA17
  • EXPANDED POLYGLUTAMINE
  • TRINUCLEOTIDE REPEAT
  • ANDROGEN RECEPTOR
  • MICE
  • GENE

Genetically modified rodent models of SCA17

Tools:

Journal Title:

Journal of Neuroscience Research

Volume:

Volume 95, Number 8

Publisher:

, Pages 1540-1547

Type of Work:

Article | Post-print: After Peer Review

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.

Copyright information:

© 2016 Wiley Periodicals, Inc.

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