Literature DB >> 10655549

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

A Ciccodicola1, M D'Esposito, T Esposito, F Gianfrancesco, C Migliaccio, M G Miano, M R Matarazzo, M Vacca, A Franzè, M Cuccurese, M Cocchia, A Curci, A Terracciano, A Torino, S Cocchia, G Mercadante, E Pannone, N Archidiacono, M Rocchi, D Schlessinger, M D'Urso.   

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.

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Year:  2000        PMID: 10655549     DOI: 10.1093/hmg/9.3.395

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  32 in total

1.  Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regions.

Authors:  Yuxin Fan; Tera Newman; Elena Linardopoulou; Barbara J Trask
Journal:  Genome Res       Date:  2002-11       Impact factor: 9.043

2.  A short pseudoautosomal region in laboratory mice.

Authors:  J Perry; S Palmer; A Gabriel; A Ashworth
Journal:  Genome Res       Date:  2001-11       Impact factor: 9.043

3.  Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing.

Authors:  Uppala Ratnamala; Robert Lyle; Rakesh Rawal; Raminder Singh; Satti Vishnupriya; Pamini Himabindu; Vittal Rao; Somesh Aggarwal; Prasuna Paluru; Lucia Bartoloni; Terri L Young; Ariane Paoloni-Giacobino; Michael A Morris; Swapan K Nath; Stylianos E Antonarakis; Uppala Radhakrishna
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-08-29       Impact factor: 4.799

4.  Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1.

Authors:  S P Robertson; S Walsh; M Oldridge; T Gunn; D Becroft; A O Wilkie
Journal:  Am J Hum Genet       Date:  2001-06-06       Impact factor: 11.025

5.  Segmental polymorphisms in the proterminal regions of a subset of human chromosomes.

Authors:  Hera Der-Sarkissian; Gilles Vergnaud; Yves-Marie Borde; Gilles Thomas; José-Arturo Londoño-Vallejo
Journal:  Genome Res       Date:  2002-11       Impact factor: 9.043

6.  Genomic structure and evolution of the ancestral chromosome fusion site in 2q13-2q14.1 and paralogous regions on other human chromosomes.

Authors:  Yuxin Fan; Elena Linardopoulou; Cynthia Friedman; Eleanor Williams; Barbara J Trask
Journal:  Genome Res       Date:  2002-11       Impact factor: 9.043

7.  The Human Pseudoautosomal Region (PAR): Origin, Function and Future.

Authors:  A Helena Mangs; Brian J Morris
Journal:  Curr Genomics       Date:  2007-04       Impact factor: 2.236

8.  Chromosome territory reorganization in a human disease with altered DNA methylation.

Authors:  Maria R Matarazzo; Shelagh Boyle; Maurizio D'Esposito; Wendy A Bickmore
Journal:  Proc Natl Acad Sci U S A       Date:  2007-10-08       Impact factor: 11.205

Review 9.  Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.

Authors:  Emanuela Viggiano; Manuela Ergoli; Esther Picillo; Luisa Politano
Journal:  Hum Genet       Date:  2016-04-21       Impact factor: 4.132

10.  DDX11L: a novel transcript family emerging from human subtelomeric regions.

Authors:  Valerio Costa; Amelia Casamassimi; Roberta Roberto; Fernando Gianfrancesco; Maria R Matarazzo; Michele D'Urso; Maurizio D'Esposito; Mariano Rocchi; Alfredo Ciccodicola
Journal:  BMC Genomics       Date:  2009-05-28       Impact factor: 3.969

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