Betticher D C, Thatcher N, Altermatt H J, Hoban P, Ryder W D, Heighway J
CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Christie Hospital (NHS) Trust, Manchester, UK.
Oncogene. 1995 Sep 7;11(5):1005-11.
Using Northern blotting and PCR analysis of cDNA derived from a range of cell lines and tissues, alternate splicing of the cyclin D1 gene (CCND1) mRNA has been demonstrated. The variant transcript shows no splicing at the downstream exon 4 boundary, encoding a protein with an altered carboxy-terminal domain. Investigation of mRNA extracted from mononuclear cells, lung tumour and normal tissue suggests that both transcripts are invariably expressed. However, splicing to produce the two forms of mRNA is modulated, in the heterozygote, by a frequent A/G polymorphism located within the splice donor region of exon 4. Preliminary analysis of patients with resectable non-small cell lung cancer suggests that genotype is associated with shortened event free survival and greater risk of local relapse.
通过对一系列细胞系和组织来源的cDNA进行Northern印迹分析和PCR分析，已证实细胞周期蛋白D1基因（CCND1）mRNA存在可变剪接。该变异转录本在下游外显子4边界处没有剪接，编码一种羧基末端结构域发生改变的蛋白质。对从单核细胞、肺肿瘤和正常组织中提取的mRNA进行研究表明，两种转录本均始终表达。然而，在杂合子中，外显子4剪接供体区域内常见的A/G多态性可调节产生两种mRNA形式的剪接。对可切除的非小细胞肺癌患者的初步分析表明，基因型与无事件生存期缩短和局部复发风险增加有关。
