Abstract
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 ther 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 approximately 50% of esophageal, stomach, and colon carcinomas.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Acid Anhydride Hydrolases*
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Amino Acid Sequence
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Base Sequence
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Chromosome Fragile Sites
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Chromosome Fragility*
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Chromosome Mapping
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Chromosomes, Human, Pair 3*
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Chromosomes, Human, Pair 8*
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Colonic Neoplasms / genetics
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Cosmids / genetics
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DNA, Complementary / genetics
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DNA, Complementary / isolation & purification
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Esophageal Neoplasms / genetics
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Exons / genetics
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Gastrointestinal Neoplasms / genetics*
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Gene Deletion
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Genes, Neoplasm*
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Humans
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Hydrolases*
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Kidney Neoplasms / genetics*
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Molecular Sequence Data
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Neoplasm Proteins*
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Polymerase Chain Reaction
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Proteins / genetics*
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RNA, Messenger / genetics
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Sequence Analysis, DNA
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Sequence Homology, Amino Acid
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Stomach Neoplasms / genetics
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Translocation, Genetic*
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Tumor Cells, Cultured / physiology
Substances
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DNA, Complementary
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Neoplasm Proteins
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Proteins
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RNA, Messenger
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fragile histidine triad protein
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histidine triad protein
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Hydrolases
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Acid Anhydride Hydrolases
Associated data
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GENBANK/U46922
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GENBANK/U76262
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GENBANK/U76263
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GENBANK/U76264
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GENBANK/U76265
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GENBANK/U76266
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GENBANK/U76267
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GENBANK/U76268
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GENBANK/U76269
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GENBANK/U76270
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GENBANK/U76271
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GENBANK/U76272
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GENBANK/U76273
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GENBANK/U76274
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GENBANK/U76275
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GENBANK/U76276
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GENBANK/U76277
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GENBANK/U76278
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GENBANK/U76279
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GENBANK/U76280
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GENBANK/U76281
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GENBANK/U76282
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GENBANK/U76283
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GENBANK/U76284
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GENBANK/U76285
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GENBANK/U76286
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GENBANK/U76287
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GENBANK/U76288
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GENBANK/U76289
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GENBANK/U76290