Tau Isoforms: Gaining Insight into MAPT Alternative Splicing

Int J Mol Sci. 2022 Dec 6;23(23):15383. doi: 10.3390/ijms232315383.

Abstract

Tau microtubule-associated proteins, encoded by the MAPT gene, are mainly expressed in neurons participating in axonal transport and synaptic plasticity. Six major isoforms differentially expressed during cell development and differentiation are translated by alternative splicing of MAPT transcripts. Alterations in the expression of human Tau isoforms and their aggregation have been linked to several neurodegenerative diseases called tauopathies, including Alzheimer's disease, progressive supranuclear palsy, Pick's disease, and frontotemporal dementia with parkinsonism linked to chromosome 17. Great efforts have been dedicated in recent years to shed light on the complex regulatory mechanism of Tau splicing, with a perspective to developing new RNA-based therapies. This review summarizes the most recent contributions to the knowledge of Tau isoform expression and experimental models, highlighting the role of cis-elements and ribonucleoproteins that regulate the alternative splicing of Tau exons.

Keywords: MAPT; PTBP1; RBP; Tau; alternative splicing; tauopathies.

Publication types

  • Review

MeSH terms

  • Alternative Splicing
  • Alzheimer Disease* / genetics
  • Alzheimer Disease* / metabolism
  • Frontotemporal Dementia* / genetics
  • Humans
  • Protein Isoforms / genetics
  • Protein Isoforms / metabolism
  • Tauopathies* / genetics
  • tau Proteins / genetics
  • tau Proteins / metabolism

Substances

  • tau Proteins
  • Protein Isoforms
  • MAPT protein, human