Miyazaki S, Imatani A, Ballard L, Marchetti A, Buttitta F, Albertsen H, Nevanlinna H A, Gallahan D, Callahan R
Laboratory of Tumor Immunology and Biology, National Cancer Institute, Bethesda, Maryland 20892, USA.
Genomics. 1997 Nov 15;46(1):155-8. doi: 10.1006/geno.1997.4996.
The INT6 gene is a common integration site for the mouse mammary tumor virus in mouse mammary tumors. We have determined that the human homolog of INT6 is located on chromosome region 8q22-q23. A processed INT6 pseudogene is located on chromosome 6q. INT6 is composed of 13 exons that span 45 kb of genomic DNA. The deduced amino acid sequence of the gene product is identical to the mouse protein and contains three potential translation start signals. We have examined 100 primary breast carcinoma DNAs for evidence of genetic alteration affecting INT6. Loss of heterozyosity (LOH) was detected in 11 of 39 (28%) of the tumor samples informative for a polymorphic sequence in intron 7 of INT6. Since single-strand conformation and hybrid mismatch analysis of the remaining allele in these tumor DNAs failed to detect any mutations, we conclude that the target gene for LOH must be closely linked to INT6.
INT6基因是小鼠乳腺肿瘤中小鼠乳腺肿瘤病毒的常见整合位点。我们已经确定INT6的人类同源物位于染色体区域8q22 - q23。一个加工后的INT6假基因位于6q染色体上。INT6由13个外显子组成，跨越45 kb的基因组DNA。该基因产物推导的氨基酸序列与小鼠蛋白相同，并包含三个潜在的翻译起始信号。我们检测了100份原发性乳腺癌DNA，以寻找影响INT6的基因改变证据。在39份对INT6内含子7中的多态序列具有信息性的肿瘤样本中，有11份（28%）检测到杂合性缺失（LOH）。由于对这些肿瘤DNA中其余等位基因的单链构象和杂交错配分析未能检测到任何突变，我们得出结论，LOH的靶基因必须与INT6紧密连锁。
