Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients
Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients
复制标题
囊性纤维化患者淋巴细胞和鼻上皮细胞 CFTR 无义突变的转录分析
DOI：
10.1002/humu.1380050305
复制
发表时间：
1995
期刊：
影响因子：
3.9
通讯作者：
J. Schmidtke
中科院分区：
文献类型：
--
作者：
K. Will;T. Dörk;M. Stuhrmann;H. Hardt;H. Ellemunter;B. Tümmler;J. Schmidtke
通过对9个不同的无义突变(Q39X、E60X、R75X、G542X、L719X、Y1092X、R1162X、S1196X、W1282X)和1个移码突变(1078delT)的RT-PCR分析，在基因水平上研究突变效应。除突变R1162X外，已观察到野生型的mRNA水平下降了30%至不到5%。在R75X和E60X突变的情况下，mRNA的减少伴随着非典型CFTR亚型的出现。在R75X等位基因来源的淋巴细胞和鼻黏膜上皮细胞中，发现单个外显子3跳跃，以及联合外显子2和3跳跃。E60X等位基因转录的mRNA分析显示外显子3(淋巴细胞和鼻上皮细胞)跳过或外显子3和4(鼻上皮细胞)跳过。除E60X突变外，在淋巴细胞和鼻腔上皮细胞之间的剪接模式和突变与野生型转录本的比例没有明显的组织特异性差异。除了异常剪接，转录本的减少是CFTR基因中无义和移码突变最常见的影响。©1995 Wiley-Liss公司
The mutational effects at the mRNA level were investigated by RT‐PCR analysis of nine different nonsense mutations (Q39X, E60X, R75X, G542X, L719X, Y1092X, R1162X, S1196X, W1282X) and one frameshift mutation (1078delT) within the CFTR gene. With the exception of mutation R1162X, reduced mRNA levels ranging from 30% to less than 5% of the wild type have been observed. In case of the R75X and E60X mutations, the mRNA reduction was accompanied by the appearance of atypical CFTR isoforms. Single exon 3 skipping, as well as joint exon 2 and 3 skipping, was observed in lymphocyte and nasal epithelial mRNA derived from R75X alleles. The analysis of mRNA transcribed from E60X alleles revealed skipping of exon 3 (lymphocytes and nasal epithelial cells) or skipping of exons 3 and 4 (nasal epithelial cells). With the exception of the E60X mutation, no obvious tissue‐specific differences in the splicing pattern and ratios of mutation to wild‐type transcripts were detected between lymphocytes and nasal epithelial cells. In addition to aberrant splicing, the reduction of transcripts is the most common effect of nonsense and frameshift mutations within the CFTR gene. © 1995 Wiley‐Liss, Inc.
登录
查看更多内容
影响因子：
56.9
作者：
J. Riordan;J. Rommens;N. Alon;R. Rozmahel;Z. Grzelczak;J. Zieleński;N. Plavsic;Jia-Ling Chou
通讯作者：
J. Riordan;J. Rommens;N. Alon;R. Rozmahel;Z. Grzelczak;J. Zieleński;N. Plavsic;Jia-Ling Chou
mRNA 的减少和胰岛素受体基因的无义突变会产生遗传性的严重胰岛素抵抗。
影响因子：
9.8
作者：
Longo,N;Langley,SD;Griffin,LD;Elsas2nd,LJ
通讯作者：
Elsas2nd,LJ
影响因子：
56.9
作者：
KEREM, BS;ROMMENS, JM;TSUI, LC
通讯作者：
TSUI, LC
因子 IXPortland：无义突变（CGA 至 TGA）导致血友病 B。
影响因子：
9.8
作者：
Chen,SH;Scott,CR;Schoof,J;Lovrien,EW;Kurachi,K
通讯作者：
Kurachi,K