Suppr超能文献

绵羊囊性纤维化跨膜传导调节因子基因的可变剪接

Alternative splicing of the ovine CFTR gene.

作者信息

Broackes-Carter Fiona C, Williams Sarah H, Wong Pei Ling, Mouchel Nathalie, Harris Ann

机构信息

Paediatric Molecular Genetics, Weatherall Institute of Molecular Medicine, Oxford University, John Radcliffe Hospital, Oxford, OX3 9DS, UK.

出版信息

Mamm Genome. 2003 Nov;14(11):778-87. doi: 10.1007/s00335-003-3013-1.

Abstract

Alternative splicing of the human CFTR gene was studied previously and shown not to generate functional CFTR-like chloride ion channels. However, it is possible that some of the alternatively spliced forms may encode CFTR proteins with different functions. The ovine CFTR gene is very similar to the human gene and has regulatory mechanisms in common. To evaluate whether the alternatively spliced forms of human CFTR are conserved in the sheep, the splice forms of the ovine CFTR gene were examined. A transcript lacking exon 9 was observed in the sheep, but unlike the human exon 9-transcript, it did not result from a polymorphic intron 8 splice acceptor site. Sheep CFTR transcripts lacking exon 17b were seen and have also been described in the human. Transcripts lacking 98 bp of the 5' end of exon 13, the whole of exon 13, and both exons 14b and 15 respectively were seen in sheep but have not been reported in human. Splice site donor and acceptor sequences were isolated, and alternative transcripts were shown to result from a combination of aberrant sites and competition of 5' splice donor sequences.

摘要

先前对人类囊性纤维化跨膜传导调节因子(CFTR)基因的可变剪接进行了研究,结果表明其不会产生功能性的CFTR样氯离子通道。然而,一些可变剪接形式有可能编码具有不同功能的CFTR蛋白。绵羊的CFTR基因与人类基因非常相似,且具有共同的调控机制。为了评估人类CFTR的可变剪接形式在绵羊中是否保守,对绵羊CFTR基因的剪接形式进行了检测。在绵羊中观察到一个缺少外显子9的转录本,但与人类缺少外显子9的转录本不同,它并非由内含子8的多态性剪接受体位点导致。在绵羊中发现了缺少外显子17b的CFTR转录本,在人类中也有相关描述。在绵羊中分别观察到缺少外显子13 5'端98 bp、整个外显子13以及外显子14b和15的转录本,但在人类中尚未见报道。分离出了剪接位点供体和受体序列,结果表明可变转录本是由异常位点和5'剪接供体序列竞争共同作用产生的。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验