Tumor-specific exon creation of the HELLS/SMARCA6 gene in non-small cell lung cancer

Masaaki Yano, Mamoru Ouchida, Hisayuki Shigematsu, Noriyoshi Tanaka, Koichi Ichimura, Kazuyasu Kobayashi, Yasuhiko Inaki, Shinichi Toyooka, Kazunori Tsukuda, Nobuyoshi Shimizu, Kenji Shimizu

Research output: Contribution to journalArticlepeer-review

26 Citations (Scopus)


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 languageEnglish
Pages (from-to)8-13
Number of pages6
JournalInternational Journal of Cancer
Issue number1
Publication statusPublished - Oct 20 2004


  • Alternative splicing
  • Loss of heterozygosity
  • Lung cancer

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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