http://www.cnr.it/ontology/cnr/individuo/prodotto/ID26703
The DNA sequence of the human X chromosome (Articolo in rivista)
- Type
- Label
- The DNA sequence of the human X chromosome (Articolo in rivista) (literal)
- Anno
- 2005-01-01T00:00:00+01:00 (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
- 10.1038/nature03440 (literal)
- Alternative label
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
- Ross M.T.; Grafham D.V.; Coffey A.J.; Scherer S.; McLay K.; Muzny D.; Platzer M.; Howell G.R.; Burrows C.; Bird C.P.; Frankish A.; Lovell F.L.; Howe K.L.; Ashurst J.L.; Fulton R.S.; Sudbrak R.; Wen G.; Jones M.C.; Hurles M.E.; Andrews T.D.; Scott C.E.; Searle S.; Ramser J.; Whittaker A.; Deadman R.; Carter N.P.; Hunt S.E.; Chen R.; Cree A.; Gunaratne P.; Havlak P.; Hodgson A.; Metzker M.L.; Richards S.; Scott G.; Steffen D.; Sodergren E.; Wheeler D.A.; Worley K.C.; Ainscough R.; Ambrose K.D.; Ansari-Lari M.A.; Aradhya S.; Ashwell R.I.S.; Babbage A.K.; Bagguley C.L.; Ballabio A.; Banerjee R.; Barker G.E.; Barlow K.F.; Barrett I.P.; Bates K.N.; Beare D.M.; Beasley H.; Beasley O.; Beck A.; Bethel G.; Blechschmidt K.; Brady N.; Bray-Allen S.; Bridgeman A.M.; Brown A.J.; Brown M.J.; Bonnin D.; Bruford E.A.; Buhay C.; Burch P.; Burford D.; Burgess J.; Burrill W.; Burton J.; Bye J.M.; Carder C.; Carrel L.; Chako J.; Chapman J.C.; Chavez D.; Chen E.; Chen G.; Chen Y.; Chen Z.; Chinault C.; Ciccodicola A.; Clark S.Y.; Clarke G.; Clee C.M.; Clegg S.; Clerc-Blankenburg K.; Clifford K.; Cobley V.; Cole C.G.; Conquer J.S.; CorbyN.; Connor R.E.; David R.; Davies J.; Davis C.; Davis J.; Delgado O.; DeShazo D.; Dhami P.; Ding Y.; H. Dinh; Dodsworth S.; Draper H.; Dugan-Rocha S.; Dunham A.; Dunn M.; Durbin K.J.; Dutta I.; Eades T.; Ellwood M.; Emery-Cohen A.; Errington H.; Evans K.L.; Faulkner L.; Francis F.; Frankland J.; Fraser A.E.; Galgoczy P.; Gilbert J.; Gill R.; Glöckner G.; Gregory S.G.; Gribble S.; Griffiths C.; Grocock R.; Gu Y.; Gwilliam R.; Hamilton C.; Hart E.A.; Hawes A.; Heath P.D.; Heitmann K.; Hennig S.; Hernandez J.; Hinzmann B.; Ho S.; Hoffs M.; Howden P.J.; Huckle E.J.; Hume J.; Hunt P.J.; Hunt A.R.; Isherwood J.; Jacob L.; Johnson D.; Jones S.; de Jong P.J.; Joseph S.S.; Keenan S.; Kelly S.; Kershaw J.K.; Khan Z.; Kioschis P.; Klages S.; Knights A.J.; Kosiura A.; Kovar-Smith C.; Laird G.K.; Langford C.; Lawlor S.; Leversha M.; Lewis L.; Liu W.; Lloyd C.; Lloyd D.M. 1; Loulseged H.; Loveland J.E.; Lovell J.D.; Lozado R.; Lu J.; Lyne R.; Ma J.; Maheshwari M.; Matthews L.H.; McDowall J.; McLaren S.; McMurray A.; Meidl vP.; Meitinger T.; Milne S.; Miner G.; Mistry S.L.; Morgan M.; Morris S.; Müller I.; Mullikin J.C.; Nguyen N.; Nordsiek G.; Nyakatura G.; O'Dell C.N.; Okwuonu G.; Palmer S.; Pandian R.; Parker D.; Parrish J.; Pasternak S.; Patel D.; Pearce A.V.; Pearson D.M.; Pelan S.E.; Perez L.; Porter K.M.; Ramsey Y.; Reichwald K.; Rhodes S.; Ridler K.A.; Schlessinger D.; Schueler M.G.; Sehra H.K.; Shaw-Smith C.; Shen H.; Sheridan E.M.; Shownkeen R.; Skuce C.D.; Smith M.L.; Sotheran E.C.; Steingruber H.E.; Steward C.A.; Storey R.; Swann R.M.; Swarbreck D.; Tabor P.E.; S. Taudien; Taylor T.; Teague B.; Thomas K.; Thorpe A.; Timms K.; Tracey A.; Trevanion S.; Tromans A.C.; d'Urso M.; Verduzco D.; Villasana D.; Waldron L.; Wall M.; Wang Q.; Warren J.; Warry G.L.; Wei X.; West A.; Whitehead S.L.; Whiteley M.N.; Wilkinson J.E.; Willey D.L.; Williams G.; Williams L.; Williamson A.; Williamson H.; Wilming L.; Woodmansey R.L.; Wray P.W.; Yen J.; Zhang J.; Zhou J.; Zoghbi H.; Zorilla S.; Buck D.; Reinhardt R.; Poustka A.; Rosenthal A.; Lehrach H.; Meindl A.; Minx P.J.; Hillier L.W.; Willard H.F.; Wilson R.K.; Waterston R.H.; Rice C.M.; Vaudin M.; Coulson A.; Nelson D.L.; Weinstock G.; Sulston J.E.; Durbin R.; Hubbard T.; Gibbs R.A.; Beck S.; Rogers J.; Bentley D.R. (literal)
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- Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England
Baylor Coll Med, Human Genome Sequencing Ctr, Dept Mol & Human Genet, Houston, TX 77030 USA
Inst Mol Biotechnol, D-07745 Jena, Germany
Washington Univ, Genome Sequencing Ctr, St Louis, MO 63108 USA
Max Planck Inst Mol Genet, D-14195 Berlin, Germany
Univ Kiel, Inst Clin Mol Biol, D-24105 Kiel, Germany
Univ Munich, D-80336 Munich, Germany
UCL, Galton Lab, HUGO Gen Nomenclature Comm, Dept Biol, London NW1 2HE, England
Penn State Coll Med, Dept Biochem & Mol Biol, Hershey, PA 17033 USA
PE Appl Biosyst, Adv Ctr Genet Technol, Foster City, CA 94404 USA
European Bioinformat Inst, Cambridge CB10 1SD, England
Inst Genet & Biophys, I-80100 Naples, Italy
Univ Edinburgh, Western Gen Hosp, Med Genet Sect, Edinburgh EH4 2XU, Midlothian, Scotland
Univ Paris 05, INSERM, U567,Inst Cochin, Lab Genet & Physiopathol Retards Mentaux, F-75014 Paris, France
Childrens Hosp Oakland, Res Inst, Oakland, CA 94609 USA
Deutsch Krebsforschungszentrum, D-69120 Heidelberg, Germany
GSF, Natl Res Ctr Environm Hlth, Inst Human Genet, D-85764 Neuherberg, Germany
RZPD Resource Ctr Genome Res, D-14059 Berlin, Germany
NHGRI, NIH, Bethesda, MD 20892 USA
NIA, Genet Lab, Baltimore, MD 21224 USA
Duke Univ, Inst Genome Sci & Policy, Durham, NC 27708 USA (literal)
- Titolo
- The DNA sequence of the human X chromosome (literal)
- 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. (literal)
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