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

Alfredo Ciccodicola, Maurizio D'Esposito, Teresa Esposito, Fernando Gianfrancesco, Carmela Migliaccio, Maria Giuseppina Miano, Maria Rosaria Matarazzo, Marcella Vacca, Annamaria Franzè, Monica Cuccurese, Massimo Cocchia, Anna Curci, Antonio Terracciano, Anna Torino, Silvia Cocchia, Grazia Mercadante, Emilio Pannone, Nicoletta Archidiacono, Mariano Rocchi, David SchlessingerMichele D'Urso

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)395-401
Number of pages7
JournalHuman Molecular Genetics
Issue number3
Publication statusPublished - Feb 12 2000

ASJC Scopus subject areas

  • Genetics


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