The FHIT gene, spanning the chromosome 3p14.2 fragile site and renal carcinoma-associated t(3;8) breakpoint, is abnormal in digestive tract cancers

Masataka Ohta, Hiroshi Inoue, Maria Grazia Cotticelli, Kumar Kastury, Raffaele Baffa, Juan Palazzo, Zurab Siprashvili, Masaki Mori, Peter McCue, Teresa Druck, Carlo M. Croce, Kay Huebner

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A 200-300 kb region of chromosome 3p14.2, including the fragile site locus FRA3B, is homozygously deleted in multiple tumor-derived cell lines. Exon amplification from cosmids covering this deleted region allowed identification of the human FHIT gene, a member of the histidine triad gene family, which encodes a protein with 69% similarity to an S. pombe enzyme, diadenosine 5', 5'' P1, P4-tetraphosphate asymmetrical hydrolase. The FHIT locus is composed of ten exons distributed over at least 500 kb, with three 5' untranslated exons centromeric to the renal carcinoma associated 3p14.2 breakpoint, the remaining exons telomeric to this translocation breakpoint, and exon 5 within the homozygously deleted fragile region. Aberrant transcripts of the FHIT locus were found in ~50% of esophageal, stomach, and colon carcinomas.

Original languageEnglish
Pages (from-to)587-597
Number of pages11
Issue number4
Publication statusPublished - Feb 23 1996


All Science Journal Classification (ASJC) codes

  • Biochemistry, Genetics and Molecular Biology(all)

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