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          Institute: MPI für molekulare Genetik     Collection: Sequencing Group     Display Documents



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ID: 272855.0, MPI für molekulare Genetik / Sequencing Group
The DNA sequence of the human X chromosome
Authors:Sudbrak, Ralf; Beck, Alfred; Heitmann, Katja; Hennig, Steffen; Klages, Sven; Kosiura, Anna; Mueller, Ines; Reinhardt, Richard; Lehrach, Hans; et al, ...
Language:English
Date of Publication (YYYY-MM-DD):2005-02-01
Title of Journal:Nature
Journal Abbrev.:Nat
Volume:343
Issue / Number:7031
Start Page:325
End Page:337
Copyright:© 2006 Nature Publishing Group – partner of AGORA, HINARI, Cross Ref and COUNTER
Review Status:not specified
Audience:Experts Only
Abstract / Description:The human X chromosome has a unique biology that was shaped by its evolution as the sex chromosome shared by males and females. We have determined 99.3% of the euchromatic sequence of the X chromosome. Our analysis illustrates the autosomal origin of the mammalian sex chromosomes, the stepwise process that led to the progressive loss of recombination between X and Y, and the extent of subsequent degradation of the Y chromosome. LINE1 repeat elements cover one-third of the X chromosome, with a distribution that is consistent with their proposed role as way stations in the process of X-chromosome inactivation. We found 1,098 genes in the sequence, of which 99 encode proteins expressed in testis and in various tumour types. A disproportionately high number of mendelian diseases are documented for the X chromosome. Of this number, 168 have been explained by mutations in 113 X-linked genes, which in many cases were characterized with the aid of the DNA sequence.
Comment of the Author/Creator:Correspondence to: Mark T. Ross1 Correspondence and requests for materials should be addressed to M.T.R. (Email: mtr@sanger.ac.uk).
All DNA sequences reported in this study have been deposited in the EMBL or GenBank databases, and accession numbers are given in Supplementary Fig. 1.
External Publication Status:published
Document Type:Article
Communicated by:Richard Reinhardt
Affiliations:MPI für molekulare Genetik
External Affiliations:The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK,
Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics, One Baylor Plaza, Houston, Texas 77030, USA,
Genomanalyse, Institut für Molekulare Biotechnologie, Beutenbergstr. 11, 07745 Jena, Germany,
Washington University Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, Missouri 63108, USA,
Medizinische Genetik, Ludwig-Maximilian-Universität, Goethestr. 29, 80336 München, Germany,
HUGO Gene Nomenclature Committee, The Galton Laboratory, Department of Biology, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK,
Department of Biochemistry and Molecular Biology, Pennsylvania State College of Medicine, Hershey, Pennsylvania 17033, USA,
Advanced Center for Genetic Technology, PE-Applied Biosystems, Foster City, California 94404, USA,
European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK,
Institute of Genetics and Biophysics, Adriano Buzzati-Traverso, Via Marconi 12, 80100 Naples, Italy,
Medical Genetics Section, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK,
Laboratoire de Génétique et de Physiopathologie des Retards Mentaux, Institut Cochin. Inserm U567, Université Paris V., 24 rue du Faubourg Saint Jacques, 75014 Paris, France;
# BACPAC Resources, Children's Hospital Oakland Research Institute, 747 52nd Street, Oakland, California 94609, USA,
Molekulare Genomanalyse, Deutsches Krebsforschungszentrum, Im Neuenheimer Feld 580, 69120 Heidelberg, Germany,
Institute of Human Genetics, GSF National Research Center for Environment and Health, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany,
RZPD Resource Center for Genome Research, 14059 Berlin, Germany,
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA,
Laboratory of Genetics, National Institute on Aging, 333 Cassell Drive, Baltimore, Maryland 21224, USA,
Institute for Genome Sciences & Policy, Duke University, Durham, North Carolina 27708, USA.
Identifiers:DOI:0.1038/nature03440
ISSN:0028-0836
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