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Human Molecular Genetics, 2000, Vol. 9, No. 3 395-401
© 2000 Oxford University Press

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 Pannone1, Nicoletta Archidiacono1, Mariano Rocchi1, David Schlessinger2 and Michele D’Urso+

International Institute of Genetics and Biophysics, CNR, Via Marconi 10, 80125 Naples, Italy, 1Institute of Genetics, University of Bari, Via Amendola 165/A, 70126 Bari, Italy and 2GRC/NIA/NIH, 5600 Nathan Shock Drive, Baltimore, MD 21224, USA

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.

+ To whom correspondence should be addressed. Tel/Fax: +39 081 7257247; Email: durso@iigbna.iigb.na.cnr.it


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