Authors
Ann‐Marie Bergin, Barbro Balder, Shivendra Kishore, Kajsa Swärd, Mirjana Hahn‐Zoric, Olle Löwhagen, Lars Å Hanson, Leonid Padyukov
Publication date
2006/10
Journal
Human mutation
Volume
27
Issue
10
Pages
990-998
Publisher
Wiley Subscription Services, Inc., A Wiley Company
Description
We previously found the soluble interleukin 4 receptor (sIL4R) to be differently expressed in allergic asthma patients compared to healthy individuals. Here we present data demonstrating the involvement of the sequence variations, c.912–1003A>G, c.912–833T>C, c. 912–630A>G, and c.912–577A>G, in the expressional regulation of IL4R splice variants. By using an IL4R minigene construct, genomic DNA and mRNA from asthma patients and nonasthmatic individuals, we analyzed the function of four highly‐linked SNPs, flanking the alternatively‐spliced exon in the IL4R gene. Results from the minigene assay showed that the form containing the minor alleles significantly decreased the expression of the soluble IL4R (exon 8+) variant, a decrease that could only be seen in the major construct after increasing amounts of either the splicing factor SRp20, or YT521‐B. Analysis of mRNA expression in our human …
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