Hum Mol Genet. 2000 Feb 12;9(3):395-401.

Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region.

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International Institute of Genetics and Biophysics, CNR, Via Marconi 10, 80125 Naples, Italy.

Abstract

Human sex chromosomes, which are morphologically and genetically different, share few regions of homology. Among them, only pseudoautosomal regions (PARs) pair and recombine during meiosis. To better address the complex biology of these regions, we sequenced the telomeric 400 kb of the long arm of the human X chromosome, including 330 kb of the human Xq/YqPAR and the telomere. Sequencing reveals subregions with distinctive regulatory and evolutionary features. The proximal 295 kb contains two genes inactivated on both the inactive X and Y chromosomes [ SYBL1 and a novel homologue ( HSPRY3 ) of Drosophila sprouty ]. The GC-rich distal 35 kb, added in stages and much later in evolution, contains the X/Y expressed gene IL9R and a novel gene, CXYorf1, only 5 kb from the Xq telomere. These properties make Xq/YqPAR a model for studies of region-specific gene inactivation, telomere evolution, and involvement in sex-limited conditions.

PMID:: 10655549; [PubMed - indexed for MEDLINE]

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The IL-9 receptor gene, located in the Xq/Yq pseudoautosomal region, has an autosomal origin, escapes X inactivation and is expressed from the Y. [Hum Mol Genet. 1997]
The IL-9 receptor gene, located in the Xq/Yq pseudoautosomal region, has an autosomal origin, escapes X inactivation and is expressed from the Y.
Vermeesch JR, Petit P, Kermouni A, Renauld JC, Van Den Berghe H, Marynen P. Hum Mol Genet. 1997 Jan; 6(1):1-8.
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. [Genomics. 1995]
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.
Kermouni A, Van Roost E, Arden KC, Vermeesch JR, Weiss S, Godelaine D, Flint J, Lurquin C, Szikora JP, Higgs DR. Genomics. 1995 Sep 20; 29(2):371-82.
Complex events in the evolution of the human pseudoautosomal region 2 (PAR2). [Genome Res. 2003]
Complex events in the evolution of the human pseudoautosomal region 2 (PAR2).
Charchar FJ, Svartman M, El-Mogharbel N, Ventura M, Kirby P, Matarazzo MR, Ciccodicola A, Rocchi M, D'Esposito M, Graves JA. Genome Res. 2003 Feb; 13(2):281-6.
Review The pseudoautosomal regions of the human sex chromosomes. [Hum Genet. 1993]
Review The pseudoautosomal regions of the human sex chromosomes.
Rappold GA. Hum Genet. 1993 Oct; 92(4):315-24.
Review The mammalian pseudoautosomal region. [Trends Genet. 1989]
Review The mammalian pseudoautosomal region.
Ellis N, Goodfellow PN. Trends Genet. 1989 Dec; 5(12):406-10.

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Hum Mol Genet. 2000 Feb 12 ;9(3):395-401.

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