RGD Reference Report - Common variations in the IL4R gene affect splicing and influence natural expression of the soluble isoform. - Rat Genome Database

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Common variations in the IL4R gene affect splicing and influence natural expression of the soluble isoform.

Authors: Bergin, AM  Balder, B  Kishore, S  Sward, K  Hahn-Zoric, M  Lowhagen, O  Hanson, LA  Padyukov, L 
Citation: Bergin AM, etal., Hum Mutat. 2006 Oct;27(10):990-8.
RGD ID: 4890352
Pubmed: PMID:16917945   (View Abstract at PubMed)
DOI: DOI:10.1002/humu.20364   (Journal Full-text)

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 material confirmed the results, demonstrating lower expression of the sIL4R in patients and controls carrying the minor alleles. Together these results show sequence variations as a possible way of altering alternative splicing selection of IL4R in vivo.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
asthma  IDA 4890352 RGD 
asthma  ISOIL4R (Homo sapiens)4890352; 4890352 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Il4r  (interleukin 4 receptor)

Genes (Mus musculus)
Il4ra  (interleukin 4 receptor, alpha)

Genes (Homo sapiens)
IL4R  (interleukin 4 receptor)


Additional Information