The IL-9 Receptor Gene (IL9R): Genomic Structure, Chromosomal Localization in the Pseudoautosomal Region of the Long Arm of the Sex Chromosomes, and Identification of IL9R Pseudogenes at 9qter, 10pter, 16pter, and 18pter

doi:10.1006/geno.1995.9992

Genomics

Volume 29, Issue 2, September 1995, Pages 371-382

https://doi.org/10.1006/geno.1995.9992 Get rights and content

Abstract

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 gene is composed of 11 exons and 10 introns, stretching over ∼17 kb, and is located within the pseudoautosomal region of the Xq and Yq chromosome, in the vicinity of the telomere. Analysis of 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 fluorescencein situhybridization, additional signals were identified in the subtelomeric regions of chromosomes 9q, 10p, 16p, and 18p. IL9R homologs located on chromosomes 9 and 18 were partially characterized, while those located on chromosomes 16 and 10 were completely sequenced. Although they are similar to the IL9R gene (∼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.

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Cited by (74)

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The specific role of IL9R mutations, when carried by spermatozoa, on the conceptuses and their implantation remains unclear. IL9R is found on one of the pseudoautosomal regions at the ends of the gonosomes (Yq12/Xq28), and a pseudoautosomal region recombination deficiency has been linked to Klinefelter syndrome, suggesting their role in chromosomal segregation (45, 46). Spermatozoa from men in the last infertile subgroup, with reproductive failure due to pregnancy loss at 7 to 8 weeks post-implantation, displayed the most mutations including those on genes related to cell cycle regulation, trophoblast development, and even recurrent miscarriage.
To identify specific germline mutations related to sperm reproductive competence, in couples with unexplained infertility.
In this retrospective study, couples were divided according to whether they had successful intracytoplasmic sperm injection outcomes (fertile) or not (infertile). Ancillary sperm function tests were performed on ejaculates, and whole exome sequencing was performed on spermatozoal DNA. Sperm aneuploidy and gene mutation profiles were compared between the 2 cohorts as well as according to the specific reasons for reproductive failure.
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Thirty-one couples with negative infertility workups and normal semen parameters.
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REGULAR ARTICLEThe IL-9 Receptor Gene (IL9R): Genomic Structure, Chromosomal Localization in the Pseudoautosomal Region of the Long Arm of the Sex Chromosomes, and Identification of IL9R Pseudogenes at 9qter, 10pter, 16pter, and 18pter

Abstract

REGULAR ARTICLE
The IL-9 Receptor Gene (IL9R): Genomic Structure, Chromosomal Localization in the Pseudoautosomal Region of the Long Arm of the Sex Chromosomes, and Identification of IL9R Pseudogenes at 9qter, 10pter, 16pter, and 18pter