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The DNA sequence of the human X chromosome
- Source :
- Nature (Lond.) 434 (2005): 325–337. doi:10.1038/nature03440, info:cnr-pdr/source/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./titolo:The DNA sequence of the human X chromosome/doi:10.1038%2Fnature03440/rivista:Nature (Lond.)/anno:2005/pagina_da:325/pagina_a:337/intervallo_pagine:325–337/volume:434
- Publication Year :
- 2005
- Publisher :
- Springer Science and Business Media LLC, 2005.
-
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.
- Subjects :
- Male
Genetic Linkage
Genetics, Medical
Centromere
HUMAN GENOME SEQUENCE
Biology
Y chromosome
Polymorphism, Single Nucleotide
Article
Evolution, Molecular
Contig Mapping
Chromosome 16
Antigens, Neoplasm
Dosage Compensation, Genetic
Sequence Homology, Nucleic Acid
Chromosome 19
Testis
Animals
Humans
Crossing Over, Genetic
X chromosome
Repetitive Sequences, Nucleic Acid
Genetics
Chromosomes, Human, X
Chromosomes, Human, Y
Multidisciplinary
INACTIVATION CENTER
LINKED MENTAL-RETARDATION
Genomics
Sequence Analysis, DNA
REPEAT HYPOTHESIS
MAMMALIAN Y-CHROMOSOME
Chromosome 4
Chromosome 3
RNA
Female
Chromosome 21
Chromosome 22
Subjects
Details
- ISSN :
- 14764687 and 00280836
- Volume :
- 434
- Database :
- OpenAIRE
- Journal :
- Nature
- Accession number :
- edsair.doi.dedup.....5b22b974268272bb114a1453955d7883
- Full Text :
- https://doi.org/10.1038/nature03440