How long known genes continue to surprise researchers

Figure 1 From: Ionotropic glutamate receptor splicing and editing: Comprehensive analysis based on human RNA-Seq data

The human genome was sequenced about 20 years ago. Since then, the sequence information encoding our proteins has been known, at least in principle. However, this information is not continuously stored in individual genes, but is divided into smaller coding sections. These coding sections, also known as exons, are assembled in a process called splicing. Depending on the gene, different exon combinations are possible, so they are called different or alternative splicing combinations.

Almost all 20,000 Human gene It can be alternative spliced. In particular, a wide variety of splicing variants can be found in the brain. This creates a great deal of diversity and allows proteins to be adapted to specific requirements. “But it’s not easy to tell which one. protein “Mutants are actually present,” said Andreas Reiner. “Sequencing already spliced ​​messenger RNA (mRNA), so-called RNA-Seq data, is now becoming more and more a high-throughput approach. It has been acquired and provides a solution. ” Andreas Reiner is currently using such data to get an overview of all ionotropic glutamate receptor splicing variants.

New detected glutamate receptor mutant

Using bioinformatics techniques, researchers aligned billions of mRNA sequence snippets into the genome and reconstructed the frequency of individual splice events. This method also allowed us to detect new previously unknown splicing variants. There were quite a few surprises: Systematic analysis Some variants found in previously studied model organisms, mice and rats, have been shown to occur completely in humans or far less than previously envisioned.

“Some of the newly identified isoforms are particularly exciting because they are quite different from the previously known variants and may have new features,” said Robin Herbrichter. .. This includes the protein domain formed by the gene for the GluA4 AMPA receptor, and the first description of the delta receptor 1 (GluD1) isoform. The focus will be on the analysis of these variants, but for example, further bioinformatics analysis is planned to determine which one. Cell type Generates various splicing variants.

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For more information:
Robin Herbrechter et al, Ionotropic glutamate receptor splicing and editing: Comprehensive analysis based on human RNA-Seq data, Cellular and molecular life sciences (2021). DOI: 10.1007 / s00018-021-03865-z

Provided by
Ruhr University-Bochum

Quote: How known genes continue to surprise researchers (June 16, 2021), see on June 16, 2021 Got

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