title: Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region.
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.
authors.affiliation: International Institute of Genetics and Biophysics, CNR, Via Marconi 10, 80125 Naples, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Ciccodicola
authors.forename: M
authors.initials: M
authors.lastname: D'Esposito
authors.forename: T
authors.initials: T
authors.lastname: Esposito
authors.forename: F
authors.initials: F
authors.lastname: Gianfrancesco
authors.forename: C
authors.initials: C
authors.lastname: Migliaccio
authors.forename: M G
authors.initials: MG
authors.lastname: Miano
authors.forename: M R
authors.initials: MR
authors.lastname: Matarazzo
authors.forename: M
authors.initials: M
authors.lastname: Vacca
authors.forename: A
authors.initials: A
authors.lastname: Franzè
authors.forename: M
authors.initials: M
authors.lastname: Cuccurese
authors.forename: M
authors.initials: M
authors.lastname: Cocchia
authors.forename: A
authors.initials: A
authors.lastname: Curci
authors.forename: A
authors.initials: A
authors.lastname: Terracciano
authors.forename: A
authors.initials: A
authors.lastname: Torino
authors.forename: S
authors.initials: S
authors.lastname: Cocchia
authors.forename: G
authors.initials: G
authors.lastname: Mercadante
authors.forename: E
authors.initials: E
authors.lastname: Pannone
authors.forename: N
authors.initials: N
authors.lastname: Archidiacono
authors.forename: M
authors.initials: M
authors.lastname: Rocchi
authors.forename: D
authors.initials: D
authors.lastname: Schlessinger
authors.forename: M
authors.initials: M
authors.lastname: D'Urso
mesh_terms: D001482:Base Composition; D015139:Blotting, Southern; D002460:Cell Line; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D004303:Dosage Compensation, Genetic; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism; D008969:Molecular Sequence Data; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D050683:R-SNARE Proteins; D012091:Repetitive Sequences, Nucleic Acid; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D016615:Telomere / Q000235:genetics* / Q000378:metabolism; D014960:X Chromosome / Q000235:genetics* / Q000378:metabolism; D014998:Y Chromosome / Q000235:genetics* / Q000378:metabolism
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D011506:Proteins; D050683:R-SNARE Proteins; C407225:SPRY3 protein, human; C121241:VAMP7 protein, human