The DNA sequence of the human X chromosome.
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Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR
The DNA sequence of the human X chromosome.
Nature. 2005 Mar 17;434(7031):325-37.
- PubMed ID
- 15772651 [ View in PubMed]
- 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.
DrugBank Data that Cites this Article
- Polypeptides
Name UniProt ID Coagulation factor VIII P00451 Details Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating Q15738 Details Hypoxanthine-guanine phosphoribosyltransferase P00492 Details N-acylglucosamine 2-epimerase P51606 Details Androgen receptor P10275 Details Cationic amino acid transporter 3 Q8WY07 Details Monocarboxylate transporter 8 P36021 Details Ornithine transcarbamylase, mitochondrial P00480 Details 3-hydroxyacyl-CoA dehydrogenase type-2 Q99714 Details Coagulation factor IX P00740 Details Sodium- and chloride-dependent creatine transporter 1 P48029 Details Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) Q9UN76 Details Serine/threonine-protein kinase A-Raf P10398 Details Choline-phosphate cytidylyltransferase B Q9Y5K3 Details 5-hydroxytryptamine receptor 2C P28335 Details Thyroxine-binding globulin P05543 Details Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial P08559 Details Granulocyte-macrophage colony-stimulating factor receptor subunit alpha P15509 Details Cysteinyl leukotriene receptor 1 Q9Y271 Details ADP/ATP translocase 2 P05141 Details Glycine receptor subunit alpha-2 P23416 Details Glutamate dehydrogenase 2, mitochondrial P49448 Details Isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial P51553 Details Glutamate receptor 3 P42263 Details 5-aminolevulinate synthase, erythroid-specific, mitochondrial P22557 Details Spermine synthase P52788 Details Apoptosis-inducing factor 1, mitochondrial O95831 Details Interleukin-3 receptor subunit alpha P26951 Details 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 P16118 Details Glucose-6-phosphate 1-dehydrogenase P11413 Details E3 ubiquitin-protein ligase XIAP P98170 Details Tyrosine-protein kinase BTK Q06187 Details Histone deacetylase 8 Q9BY41 Details Cytokine receptor common subunit gamma P31785 Details Synaptotagmin-like protein 4 Q96C24 Details Amine oxidase [flavin-containing] B P27338 Details Amine oxidase [flavin-containing] A P21397 Details Trimethyllysine dioxygenase, mitochondrial Q9NVH6 Details Voltage-dependent L-type calcium channel subunit alpha-1F O60840 Details Histone deacetylase 6 Q9UBN7 Details NF-kappa-B essential modulator Q9Y6K9 Details Interleukin-13 receptor subunit alpha-2 Q14627 Details Alpha-galactosidase A P06280 Details Ecto-NOX disulfide-thiol exchanger 2 Q16206 Details Actin nucleation-promoting factor WAS P42768 Details Peripheral plasma membrane protein CASK O14936 Details Glucose-dependent insulinotropic receptor Q8TDV5 Details Type-2 angiotensin II receptor P50052 Details Toll-like receptor 8 Q9NR97 Details Acetylserotonin O-methyltransferase P46597 Details Gamma-aminobutyric acid receptor subunit epsilon P78334 Details Gamma-aminobutyric acid receptor subunit theta Q9UN88 Details Copper-transporting ATPase 1 Q04656 Details Cytochrome c oxidase subunit 7B, mitochondrial P24311 Details Cyclin-dependent kinase 16 Q00536 Details Protein S100-G P29377 Details Serine/threonine-protein kinase 26 Q9P289 Details Phosphoglycerate kinase 1 P00558 Details Synapsin-1 P17600 Details Ubiquitin-like modifier-activating enzyme 1 P22314 Details A-type voltage-gated potassium channel KCND1 Q9NSA2 Details Ribosomal protein S6 kinase alpha-3 P51812 Details 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase Q15125 Details Membrane-associated progesterone receptor component 1 O00264 Details Regucalcin Q15493 Details NADPH oxidase 1 Q9Y5S8 Details Protocadherin-19 Q8TAB3 Details Hephaestin Q9BQS7 Details Neural cell adhesion molecule L1 P32004 Details Lys-63-specific deubiquitinase BRCC36 P46736 Details Filamin-A P21333 Details Large ribosomal subunit protein uL16 P27635 Details Iduronate 2-sulfatase P22304 Details Ribosomal protein S6 kinase alpha-6 Q9UK32 Details Cytoplasmic tyrosine-protein kinase BMX P51813 Details Interleukin-1 receptor-associated kinase 1 P51617 Details Mitogen-activated protein kinase kinase kinase 15 Q6ZN16 Details Serine/threonine-protein kinase PAK 3 O75914 Details Dystrophin P11532 Details Lysophosphatidic acid receptor 4 Q99677 Details P2Y purinoceptor 4 P51582 Details Putative P2Y purinoceptor 10 O00398 Details P2Y purinoceptor 8 Q86VZ1 Details V-type proton ATPase subunit S1 Q15904 Details Plasma membrane calcium-transporting ATPase 3 Q16720 Details