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

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19 Citations (Scopus)

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 languageEnglish
Pages (from-to)8-13
Number of pages6
JournalInternational Journal of Cancer
Volume112
Issue number1
DOIs
Publication statusPublished - Oct 20 2004

Keywords

  • Alternative splicing
  • HELLS
  • Loss of heterozygosity
  • Lung cancer
  • SMARCA6

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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    Yano, M., Ouchida, M., Shigematsu, H., Tanaka, N., Ichimura, K., Kobayashi, K., Inaki, Y., Toyooka, S., Tsukuda, K., Shimizu, N., & Shimizu, K. (2004). Tumor-specific exon creation of the HELLS/SMARCA6 gene in non-small cell lung cancer. International Journal of Cancer, 112(1), 8-13. https://doi.org/10.1002/ijc.20407