Scholarlink

<p>The tau protein-encoding gene, <i>MAPT</i>, undergoes complex alterative splicing that gives rise to several protein isoforms in the adult human brain. These differ in the inclusion or exclusion of exons 2, 3, and 10 located at the N- and C-terminals of the protein. Inclusion or exclusion of exon 10 produces 4-Repeat (4R) and 3-Repeat (3R) tau isoforms, respectively. While the altered protein ratios have been greatly described in the tauopathies, the evidence supporting the presence of changes at the transcript level has been inconsistent. We characterized <i>MAPT</i> alternative splicing patterns with long-read RNA sequencing (LR RNA-Seq) in a 3R tauopathy, Pick’s disease (PiD), which represents a rare sporadic primary tauopathy that affects younger individuals. Our data highlights the use of LR RNA-Seq to comprehensively characterize <i>MAPT</i> transcripts in the context of PiD, suggesting an intricate regulation of transcript expression that extends beyond the canonical transcripts.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Describing the diversity of MAPT transcripts in the parietal cortex of Pick’s disease patients

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年9月4日

查看全文
  • Nicole Tamvaka,
  • Maximilian G. Stuber,
  • Marios Gavrielatos,
  • Alexandra I. Soto-Beasley,
  • Michael G. Heckman,
  • Melissa E. Murray,
  • Bradley F. Boeve,
  • Keith A. Josephs,
  • Shanu F. Roemer,
  • Neill R. Graff-Radford,
  • Dennis W. Dickson,
  • Owen A. Ross

摘要

The tau protein-encoding gene, MAPT, undergoes complex alterative splicing that gives rise to several protein isoforms in the adult human brain. These differ in the inclusion or exclusion of exons 2, 3, and 10 located at the N- and C-terminals of the protein. Inclusion or exclusion of exon 10 produces 4-Repeat (4R) and 3-Repeat (3R) tau isoforms, respectively. While the altered protein ratios have been greatly described in the tauopathies, the evidence supporting the presence of changes at the transcript level has been inconsistent. We characterized MAPT alternative splicing patterns with long-read RNA sequencing (LR RNA-Seq) in a 3R tauopathy, Pick’s disease (PiD), which represents a rare sporadic primary tauopathy that affects younger individuals. Our data highlights the use of LR RNA-Seq to comprehensively characterize MAPT transcripts in the context of PiD, suggesting an intricate regulation of transcript expression that extends beyond the canonical transcripts.