Abstract
To identify tumor-suppressor genes on chromosome 10 in non-small cell lung cancers, we isolated 10 types of splicing variant of the HELLS/SMARCA6 gene transcripts. HELLS/ SMARCA6 is a novel member of SNF2 family, which is implicated in cellular functions like chromatin remodeling. Variant I was an alternatively spliced isoform containing an insertion of a 44 ntd intronic sequence between exons 3 and 4, giving rise to a premature termination of translation. Expression of variant I was detected exclusively in lung cancer specimens (Il of 43 cases, 26%) but was not detected in corresponding normal tissues. The D10S520 marker in the proximity of the HELLS/SMARCA6 gene showed prevalent allelic loss (41%) compared to flanking markers (25-31%). These results suggest that loss of function of HELLS/ SMARCA6 by allelic loss and aberrant proteins by tumor-specific exon creation may result in epigenetic deregulation, leading lung cells to malignancy or its progression.
Original language | English |
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Pages (from-to) | 8-13 |
Number of pages | 6 |
Journal | International Journal of Cancer |
Volume | 112 |
Issue number | 1 |
DOIs | |
Publication status | Published - Oct 20 2004 |
Keywords
- Alternative splicing
- HELLS
- Loss of heterozygosity
- Lung cancer
- SMARCA6
ASJC Scopus subject areas
- Oncology
- Cancer Research