The DNA sequence of the human X chromosome

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 proce...

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Published inNature (London) Vol. 434; no. 7031; pp. 325 - 337
Main Authors Coffey, Alison J., McLay, Kirsten, Howell, Gareth R., Bird, Christine P., Frankish, Adam, Fulton, Robert S., Sudbrak, Ralf, Andrews, T. Daniel, Searle, Stephen, Whittaker, Adam, Carter, Nigel P., Hodgson, Anne, Richards, Stephen, Steffen, David, Sodergren, Erica, Ainscough, Rachael, Barker, Gary E., Beasley, Helen, Blechschmidt, Karin, Brown, Andrew J., Brown, Mary J., Bonnin, David, Buhay, Christian, Burch, Paula, Burgess, Joanne, Carrel, Laura, Chako, Joseph, Chavez, Dean, Chen, Ellson, Chen, Yuan, Chinault, Craig, Ciccodicola, Alfredo, Conquer, Jen S., David, Robert, Davis, John, DeShazo, Denise, Dhami, Pawandeep, Dugan-Rocha, Shannon, Dunn, Matthew, Ellwood, Matthew, Faulkner, Louisa, Francis, Fiona, Hamilton, Cerissa, Hoffs, Michael, Huckle, Elizabeth J., de Jong, Pieter J., Joseph, Shirin S., Keenan, Stephen, Khan, Ziad, Laird, Gavin K., Lewis, Lora, Liu, Wen, Lozado, Ryan, McDowall, Jennifer, McMurray, Amanda, Mistry, Shailesh L., Morgan, Margaret, Morris, Sidney, Müller, Ines, Mullikin, James C., Nyakatura, Gerald, O'Dell, Christopher N., Palmer, Sophie, Pandian, Richard, Parker, David, Parrish, Julia, Pasternak, Shiran, Pearce, Alex V., Pearson, Danita M., Perez, Lesette, Porter, Keith M., Schlessinger, David, Shen, Hua, Sheridan, Elizabeth M., Skuce, Carl D., Sotheran, Elizabeth C., Swann, R. Mark, Swarbreck, David, Tabor, Paul E., Taylor, Tineace, Teague, Brian, Trevanion, Steve, Tromans, Anthony C., d'Urso, Michele, Villasana, Donna, Wall, Melanie, Warren, James, Williams, Leanne, Woodmansey, Rebecca L., Yen, Jennifer, Poustka, Annemarie, Rosenthal, André, Minx, Patrick J., Willard, Huntington F., Wilson, Richard K., Vaudin, Mark, Coulson, Alan, Durbin, Richard, Hubbard, Tim, Bentley, David R.
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 17.03.2005
Nature Publishing
Nature Publishing Group
Subjects
Animals
Antigens, Neoplasm - genetics
Biological and medical sciences
Centromere - genetics
Chromatin. Chromosome
Chromosomes
Chromosomes, Human, X - genetics
Chromosomes, Human, Y - genetics
Contig Mapping
Crossing Over, Genetic - genetics
Deoxyribonucleic acid
DNA
Dosage Compensation, Genetic
Evolution, Molecular
Female
Fundamental and applied biological sciences. Psychology
Genetic Linkage - genetics
Genetics, Medical
Genomics
Human subjects
Humanities and Social Sciences
Humans
Inactivation
Male
Molecular and cellular biology
Molecular genetics
multidisciplinary
Polymorphism, Single Nucleotide - genetics
Quantitative genetics
Repetitive Sequences, Nucleic Acid - genetics
RNA - genetics
Science
Science (multidisciplinary)
Sequence Analysis, DNA
Sequence Homology, Nucleic Acid
Testis - metabolism
Human
Molecular evolution
X-Chromosome
DNA
Sex chromosome
Online AccessGet full text

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Abstract 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. The human X chromosome The detailed sequence of the human X chromosome is published this week, together with a survey of inactivated X genes in females. Females have two Xs and males have one X and a Y; to make the gene dosage equivalent, females inactivate almost an entire chromosome. The X inactivation profile has important clinical implications, as the unique nature of sex chromosomes means that it contains a disproportionate number of disease-causing genes. With both the X and Y chromosomes sequenced, their evolution from a pair of ‘normal’ chromosomes can be studied in detail. The cover, by Alfred Pasieka (Science Photo Library), depicts the inactivation signal starting at the middle of the chromosome (where it is reddest) and moving out through the arms.
AbstractList 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.
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.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.
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. The human X chromosome The detailed sequence of the human X chromosome is published this week, together with a survey of inactivated X genes in females. Females have two Xs and males have one X and a Y; to make the gene dosage equivalent, females inactivate almost an entire chromosome. The X inactivation profile has important clinical implications, as the unique nature of sex chromosomes means that it contains a disproportionate number of disease-causing genes. With both the X and Y chromosomes sequenced, their evolution from a pair of ‘normal’ chromosomes can be studied in detail. The cover, by Alfred Pasieka (Science Photo Library), depicts the inactivation signal starting at the middle of the chromosome (where it is reddest) and moving out through the arms.
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. [PUBLICATION ABSTRACT]
Audience Academic
Author Babbage, Anne K.
Maheshwari, Manjula
Villasana, Donna
Beasley, Oliver
Kioschis, Petra
Heath, Paul D.
Hunt, Adrienne R.
Shownkeen, Ratna
Deadman, Rebecca
Verduzco, Daniel
Johnson, David
Schueler, Mary G.
Jacob, Leni
Delgado, Oliver
Gibbs, Richard A.
Wilson, Richard K.
Clee, Chris M.
Tracey, Alan
Bray-Allen, Sarah
Cole, Charlotte G.
Rice, Catherine M.
Hennig, Steffen
Hinzmann, Bernd
Hume, Jennifer
Loulseged, Hermela
West, Anthony
Barlow, Karen F.
Grocock, Russell
Thorpe, Andrea
Williams, Leanne
Sudbrak, Ralf
Richards, Stephen
Chavez, Dean
Ho, Sarah
Cobley, Vicky
Swann, R. Mark
Perez, Lesette
Gilbert, James
Searle, Stephen
Sehra, Harminder K.
Bird, Christine P.
Ramser, Juliane
Buhay, Christian
Kovar-Smith, Christie
Lyne, Rachael
Gunaratne, Preethi
Clifford, Karen
Taudien, Stefan
Burgess, Joanne
Clark, Sue Y.
Chen, Guan
Lewis, Lora
Gwilliam, Rhian
Brown, Andrew J.
Parker, David
Conquer, Jen S.
Rhodes, Susan
Hoffs, Michael
Chen, Zhijian
Warren, James
Gu, Yanghong
Parrish, Julia
Draper, Heather
Skuce, Carl D.
Whiteley, Mathew N.
Rogers, Jane
Isherwood, Jud
AuthorAffiliation 18 RZPD Resource Center for Genome Research, 14059 Berlin, Germany
6 Institute for Clinical Molecular Biology, Christian-Albrechts-University, 24105 Kiel, Germany
3 Genomanalyse, Institut für Molekulare Biotechnologie, Beutenbergstr. 11, 07745 Jena, Germany
17 Institute of Human Genetics, GSF National Research Center for Environment and Health, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany
13 Medical Genetics Section, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK
16 Molekulare Genomanalyse, Deutsches Krebsforschungszentrum, Im Neuenheimer Feld 580, 69120 Heidelberg, Germany
12 Institute of Genetics and Biophysics, Adriano Buzzati-Traverso, Via Marconi 12, 80100 Naples, Italy
5 Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
15 BACPAC Resources, Children’s Hospital Oakland Research Institute, 747 52nd Street, Oakland, California 94609, USA
14 Laboratoire de Génétique et de Physiopathologie des Retards Mentaux, Institut Cochin. In
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  fullname: Perez, Lesette
  organization: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
– sequence: 204
  givenname: Keith M.
  surname: Porter
  fullname: Porter, Keith M.
  organization: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton
– sequence: 209
  givenname: David
  surname: Schlessinger
  fullname: Schlessinger, David
  organization: Laboratory of Genetics, National Institute on Aging
– sequence: 213
  givenname: Hua
  surname: Shen
  fullname: Shen, Hua
  organization: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
– sequence: 214
  givenname: Elizabeth M.
  surname: Sheridan
  fullname: Sheridan, Elizabeth M.
  organization: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton
– sequence: 216
  givenname: Carl D.
  surname: Skuce
  fullname: Skuce, Carl D.
  organization: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton
– sequence: 218
  givenname: Elizabeth C.
  surname: Sotheran
  fullname: Sotheran, Elizabeth C.
  organization: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton
– sequence: 222
  givenname: R. Mark
  surname: Swann
  fullname: Swann, R. Mark
  organization: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton
– sequence: 223
  givenname: David
  surname: Swarbreck
  fullname: Swarbreck, David
  organization: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton
– sequence: 224
  givenname: Paul E.
  surname: Tabor
  fullname: Tabor, Paul E.
  organization: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
– sequence: 226
  givenname: Tineace
  surname: Taylor
  fullname: Taylor, Tineace
  organization: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
– sequence: 227
  givenname: Brian
  surname: Teague
  fullname: Teague, Brian
  organization: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
– sequence: 232
  givenname: Steve
  surname: Trevanion
  fullname: Trevanion, Steve
  organization: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton
– sequence: 233
  givenname: Anthony C.
  surname: Tromans
  fullname: Tromans, Anthony C.
  organization: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton
– sequence: 234
  givenname: Michele
  surname: d'Urso
  fullname: d'Urso, Michele
  organization: Institute of Genetics and Biophysics, Adriano Buzzati-Traverso
– sequence: 236
  givenname: Donna
  surname: Villasana
  fullname: Villasana, Donna
  organization: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
– sequence: 238
  givenname: Melanie
  surname: Wall
  fullname: Wall, Melanie
  organization: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton
– sequence: 240
  givenname: James
  surname: Warren
  fullname: Warren, James
  organization: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
– sequence: 249
  givenname: Leanne
  surname: Williams
  fullname: Williams, Leanne
  organization: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton
– sequence: 253
  givenname: Rebecca L.
  surname: Woodmansey
  fullname: Woodmansey, Rebecca L.
  organization: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton
– sequence: 255
  givenname: Jennifer
  surname: Yen
  fullname: Yen, Jennifer
  organization: Baylor College of Medicine Human Genome Sequencing Center, Department of Molecular and Human Genetics
– sequence: 262
  givenname: Annemarie
  surname: Poustka
  fullname: Poustka, Annemarie
  organization: Molekulare Genomanalyse, Deutsches Krebsforschungszentrum
– sequence: 263
  givenname: André
  surname: Rosenthal
  fullname: Rosenthal, André
  organization: Genomanalyse, Institut für Molekulare Biotechnologie
– sequence: 266
  givenname: Patrick J.
  surname: Minx
  fullname: Minx, Patrick J.
  organization: Washington University Genome Sequencing Center
– sequence: 268
  givenname: Huntington F.
  surname: Willard
  fullname: Willard, Huntington F.
  organization: Institute for Genome Sciences & Policy, Duke University
– sequence: 269
  givenname: Richard K.
  surname: Wilson
  fullname: Wilson, Richard K.
  organization: Washington University Genome Sequencing Center
– sequence: 272
  givenname: Mark
  surname: Vaudin
  fullname: Vaudin, Mark
  organization: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton
– sequence: 273
  givenname: Alan
  surname: Coulson
  fullname: Coulson, Alan
  organization: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton
– sequence: 277
  givenname: Richard
  surname: Durbin
  fullname: Durbin, Richard
  organization: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton
– sequence: 278
  givenname: Tim
  surname: Hubbard
  fullname: Hubbard, Tim
  organization: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton
– sequence: 282
  givenname: David R.
  surname: Bentley
  fullname: Bentley, David R.
  organization: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton
BackLink http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=16618319$$DView record in Pascal Francis
https://www.ncbi.nlm.nih.gov/pubmed/15772651$$D View this record in MEDLINE/PubMed
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15772630 - Nature. 2005 Mar 17;434(7031):279-80
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Snippet 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...
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StartPage 325
SubjectTerms Animals
Antigens, Neoplasm - genetics
Biological and medical sciences
Centromere - genetics
Chromatin. Chromosome
Chromosomes
Chromosomes, Human, X - genetics
Chromosomes, Human, Y - genetics
Contig Mapping
Crossing Over, Genetic - genetics
Deoxyribonucleic acid
DNA
Dosage Compensation, Genetic
Evolution, Molecular
Female
Fundamental and applied biological sciences. Psychology
Genetic Linkage - genetics
Genetics, Medical
Genomics
Human subjects
Humanities and Social Sciences
Humans
Inactivation
Male
Molecular and cellular biology
Molecular genetics
multidisciplinary
Polymorphism, Single Nucleotide - genetics
Quantitative genetics
Repetitive Sequences, Nucleic Acid - genetics
RNA - genetics
Science
Science (multidisciplinary)
Sequence Analysis, DNA
Sequence Homology, Nucleic Acid
Testis - metabolism
Title The DNA sequence of the human X chromosome
URI https://link.springer.com/article/10.1038/nature03440
https://www.ncbi.nlm.nih.gov/pubmed/15772651
https://www.proquest.com/docview/204599907
https://www.proquest.com/docview/17781023
https://www.proquest.com/docview/67518705
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https://pubmed.ncbi.nlm.nih.gov/PMC2665286
Volume 434
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