Genomic organization of MUC4 mucin gene -: Towards the characterization of splice variants
Genomic organization of MUC4 mucin gene -: Towards the characterization of splice variants
复制标题
DOI：
10.1046/j.1432-1033.2002.03032.x
复制
发表时间：
2002-08-01
期刊：
影响因子：
--
通讯作者：
Buisine, MP
中科院分区：
文献类型：
--
作者：
Escande, F;Lemaitre, L;Buisine, MP
人MUC 4基因编码一个大的膜相关粘蛋白，其特征在于粘蛋白串联重复结构域和生长因子-Eke跨膜结构域。除了最初发表的序列（sv 0-MUC 4）之外，最近还描述了来自各种组织和细胞系的几种MUC 4 cDNA序列（称为sv 1-MUC 4至sv 21-MUC 4、MUC 4/X、MUC 4/Y）。它们与sv 0-MUC 4的不同之处在于位于3'区的缺失和/或插入，或者对于其中两个，在于中央重复结构域的缺失。为了确定负责MUC 4转录物多样性的机制的性质，确定了人MUC 4基因3'区的基因组结构。我们的研究结果表明，它跨越约30.8 kb的基因组DNA，由24个外显子，包括一个替代外显子，这是专门报告的sv 1-MUC 4。此外，我们已经表明，不同的MUC 4转录本产生的几种机制，包括盒外显子的替代使用，外显子跳跃或使用隐蔽剪接供体/受体位点。
The human MUC4 gene encodes a large membrane-associated mucin, characterized by a mucin tandem repeat domain and a growth factor-Eke transmembrane domain. In addition to the originally published sequence (sv0-MUC4), several MUC4 cDNA sequences (called sv1-MUC4 to sv21-MUC4, MUC4/X, MUC4/Y) from various tissues and cell lines have been recently described. They differ from sv0-MUC4 by deletions and/or insertions located in the 3' region or, for two of them, by deletion of the central repetitive domain. To establish the nature of the mechanisms responsible for the diversity of MUC4 transcripts, the genomic structure of the 3' region of the human MUC4 gene was determined. Our results show that it spans approximately 30.8 kb of genomic DNA and is composed of 24 exons, including one alternative exon which was exclusively reported for sv1-MUC4. Moreover, we have shown that the different MUC4 transcripts are generated by several mechanisms, including the alternative use of cassette exons, exon skipping or use of cryptic splice donor/acceptor sites.