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Large deletions partially external to the human hprt gene result in chimeric transcripts
M J Lippert1, I R Rainville, J A Nicklas
1University of Vermont Genetics Laboratory, Burlington 05401, USA.
Mutagenesis
|May 1, 1997
Summary
Gene fusions can occur in normal cells through gene rearrangements. This study found aberrant hprt-containing transcripts in 36% of T-lymphocyte mutants, indicating frequent fusion-gene formation.
Area of Science:
- Molecular Biology
- Genetics
- Cancer Research
Background:
- Gene rearrangements are implicated in tumor formation, often involving oncogenes.
- The occurrence of gene fusions in normal cells due to rearrangements is not well understood.
Purpose of the Study:
- To investigate the frequency of gene fusions in normal human T-lymphocytes.
- To identify fusion-gene transcripts resulting from large deletion mutations in the hypoxanthine-guanine phosphoribosyltransferase (hprt) gene.
Main Methods:
- Utilized the 3' rapid amplification of cDNA ends (RACE) technique.
- Analyzed large deletion mutations in the hprt gene of human T-lymphocytes.
- Detected and characterized aberrant, hprt-containing transcripts.
Main Results:
- Aberrant hprt-containing transcripts were detected in 7 out of 19 (approximately 36%) T-lymphocyte mutants.
- These fusion transcripts resulted from gene rearrangements, producing processed messenger RNAs (mRNAs).
- Most fusions involved the hprt gene integrating into repetitive elements like Alu, LINE, or microsatellites.
Conclusions:
- Gene fusions can arise in normal cells via gene rearrangements, not solely in tumors.
- A significant proportion of hprt mutations in T-lymphocytes involve the formation of fusion transcripts.
- Repetitive elements play a role in mediating these gene fusion events.