Identification, basic characterization and evolutionary analysis of differentially spliced mRNA isoforms of human YAP1 gene
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Updated: May 19, 2026

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
Published on: June 24, 2021
Christian J Gaffney1, Tsutomu Oka, Virginia Mazack
1Laboratory of Signal Transduction and Proteomic Profiling, Weis Center for Research, Geisinger Clinic, 100 North Academy Avenue, Danville, PA 17821-2608, USA.
Abstract:
The YAP1 gene encodes a potent new oncogene and stem cell factor. However, in some cancers, the YAP1 gene plays a role of tumor suppressor. At present, the gene and its products are intensely studied and its cDNAs are used as transgenes in cellular and animal models. Here, we report 4 new potential mRNA splicing isoforms of the YAP1 gene, bringing the total number of isoforms to 8. We detected all 8 YAP1 isoforms in a panel of human tissues and evaluated the expression of the longest isoform of YAP1 (YAP1-2δ) using Real Time PCR. All YAP1 isoforms are barely detectable in human leukocytes compared to fair levels of expression found in other human tissues. We analyzed the structure of the genomic region that gave rise to alternatively spliced YAP1 transcripts in different metazoans. We found that YAP1 isoforms, which utilize exon 6 emerged in evolution with the appearance of amniotes. Interestingly, 6 YAP1 isoforms, which contain the exon 5 extension, exon 6 or both would have their leucine zipper region disrupted in the predicted protein product, compared to the intact leucine zipper found in two YAP1 (α) isoforms. This observation has direct functional ramifications for YAP1 signaling. We also propose a normalized nomenclature for the mRNA splice variants of the YAP1 gene, which should aid in the characterization of signaling differences among the potential protein products of the YAP1 gene.
Insights
Researchers identified 4 new YAP1 mRNA splicing isoforms, totaling 8. These variants, with differing expression in human tissues and evolutionary origins, impact YAP1 protein structure and signaling pathways.
Area of Science:
- Molecular Biology
- Genetics
- Evolutionary Biology
Background:
- The YAP1 gene acts as an oncogene and stem cell factor, but can function as a tumor suppressor in certain cancers.
- YAP1 gene products are extensively studied and utilized in cellular and animal models.
Purpose of the Study:
- To report novel mRNA splicing isoforms of the YAP1 gene.
- To analyze the expression patterns and evolutionary origins of YAP1 isoforms.
- To investigate the structural and functional consequences of YAP1 alternative splicing.
Main Methods:
- Detection of YAP1 mRNA isoforms in human tissues.
- Real-Time PCR for quantifying YAP1-2δ expression.
- Comparative genomic analysis of YAP1 in metazoans.
Main Results:
- Identified 4 new YAP1 mRNA splicing isoforms, bringing the total to 8.
- Detected all 8 isoforms across human tissues, with low expression in leukocytes.
- Found that YAP1 isoforms utilizing exon 6 evolved with amniotes.
- Observed that several isoforms disrupt the leucine zipper region, impacting YAP1 signaling.
Conclusions:
- A total of 8 YAP1 mRNA splicing isoforms have been identified.
- Differential expression and evolutionary patterns of YAP1 isoforms suggest functional diversification.
- Alternative splicing of YAP1 impacts protein structure, particularly the leucine zipper domain, with implications for signaling pathways.
- A standardized nomenclature for YAP1 variants is proposed to facilitate research.
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