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Alternative splicing of hMSH2 in normal human tissues
Y Mori1, H Shiwaku, S Fukushige
1Department of Molecular Pathology, Tohoku University School of Medicine, Sendai, Japan.
Human Genetics
|May 1, 1997
Summary
Researchers discovered two new forms of alternatively spliced messenger RNA (mRNA) for the human MSH2 (hMSH2) gene in normal human organs. These novel transcripts lead to truncated hMSH2 proteins, but their biological role requires further investigation.
Area of Science:
- Molecular Biology
- Genetics
- Human Physiology
Background:
- The human MSH2 (hMSH2) gene is crucial for DNA mismatch repair, homologous to bacterial MutS and yeast Msh2.
- DNA mismatch repair proteins identify and correct errors during DNA replication, maintaining genomic stability.
Purpose of the Study:
- To investigate the expression and alternative splicing of the hMSH2 gene in normal human organs.
- To identify and characterize novel alternatively spliced variants of hMSH2 mRNA.
Main Methods:
- Analysis of hMSH2 gene expression using polymerase chain reaction coupled with reverse transcription (RT-PCR).
- Identification and sequencing of alternatively spliced mRNA variants.
Main Results:
- Two novel types of alternatively spliced hMSH2 mRNAs were identified in normal human organs.
- One variant lacked exon 13; the other contained an unusual intron 12 (TA-TT intron) and lacked a specific portion of the coding sequence.
- Both splice variants result in frameshifts, producing truncated hMSH2 proteins lacking highly conserved regions.
Conclusions:
- Novel alternative splicing events in hMSH2 gene expression occur in normal human tissues.
- These splicing events generate truncated hMSH2 proteins, potentially impacting DNA mismatch repair function.
- The biological significance of these alternatively spliced hMSH2 variants remains to be determined.