The FHIT gene, spanning the chromosome 3p14.2 fragile site acid renal carcinoma-associated t(3;8) breakpoint, is abnormal in digestive tract cancers
The FHIT gene, spanning the chromosome 3p14.2 fragile site acid renal carcinoma-associated t(3;8) breakpoint, is abnormal in digestive tract cancers
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DOI：
10.1016/s0092-8674(00)81034-x
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发表时间：
1996-02-23
期刊：
影响因子：
64.5
通讯作者：
Huebner, K
中科院分区：
文献类型：
--
作者：
Ohta, M;Inoue, H;Huebner, K
染色体3p14.2的200-300 kb区域，包括脆性位点基因座FRA 3B，在多种肿瘤衍生的细胞系中同源缺失。从覆盖该缺失区域的外显子扩增允许鉴定人FHIT基因，组氨酸三联体基因家族的成员，其编码与S.粟酒裂殖酵母酶，二腺苷5 '，5-三聚P-1，P-4-四磷酸不对称水解酶。FHIT基因座由分布在至少500 kb上的10个外显子组成，其中3个5'非翻译外显子位于肾癌相关3p14.2断点的着丝粒，其余外显子位于该易位断点的端粒，而外显子5位于纯合缺失的脆性区内。在食管癌、胃癌和结肠癌中发现了FHIT基因座的异常转录物，其比例接近50%。
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', 5triple prime P-1, P-4-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 similar to 50% of esophageal, stomach, and colon carcinomas.