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Cosmids containing the human IL-9 receptor (R) gene (IL9R) have been isolated from a genomic library using the IL9R cDNA as a probe. We have shown that the human IL9R cDNA as a probe. We have shown that hte human IL9R gene is composed of 11 exons and 10 introns, stretching over approximately 17 kb, and is located within the pseudoautosomal region of the Xq and Yq chromosome, in the vicinity of the telomere. Analysis f the 5' flanking region revealed multiple transcription initiation sites as well as potential binding motifs for AP1, AP2, AP3, Sp1, and NF-kB, although this region lacks a TATA box. Using the human IL9R cosmid as a probe to perform fluorescence in situ hybridization, additional signals were identified in the subtelomeric regions of chromosomes 9q, 10p, 16p, and 18p. IL9R homologs located on chromosomes 16 and 10 were completely sequenced. Although they are similar to the IL9R gene (approximately 90% identity), none of these copies encodes a functional receptor: none of them contains sequences homologous to the 5' flanking region or exon 1 of the IL9R gene, and the remaining ORFs have been inactivated by various point mutations and deletions. Taken together, our results indicate that the IL9R gene is located at Xq28 and Yq12, in the long arm pseudoautosomal region, and that four IL9R pseudogenes are located on 9q34, 10p15, 16p13.3, and 18p11.3, probably dispersed as the result of translocations during evolution.

Original publication

DOI

10.1006/geno.1995.9992

Type

Journal article

Journal

Genomics

Publication Date

09/1995

Volume

29

Pages

371 - 382

Addresses

Ludwig Institute for Cancer Research, Brussels Branch, Belgium.

Keywords

Cell Line, Tumor Cells, Cultured, Chromosomes, Human, Pair 9, Chromosomes, Human, Pair 10, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 18, X Chromosome, Y Chromosome, Humans, Receptors, Interleukin, Recombinant Proteins, DNA, Neoplasm, RNA, Messenger, In Situ Hybridization, Fluorescence, Chromosome Mapping, Cloning, Molecular, Random Amplified Polymorphic DNA Technique, Alternative Splicing, Base Sequence, Pseudogenes, Introns, Exons, Molecular Sequence Data, Receptors, Interleukin-9