DNA sequence and analysis of human chromosome 9.
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Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R, Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H, Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ, Bentley DR, Beck S, Rogers J, Dunham I
DNA sequence and analysis of human chromosome 9.
Nature. 2004 May 27;429(6990):369-74.
- PubMed ID
- 15164053 [ View in PubMed]
- Abstract
Chromosome 9 is highly structurally polymorphic. It contains the largest autosomal block of heterochromatin, which is heteromorphic in 6-8% of humans, whereas pericentric inversions occur in more than 1% of the population. The finished euchromatic sequence of chromosome 9 comprises 109,044,351 base pairs and represents >99.6% of the region. Analysis of the sequence reveals many intra- and interchromosomal duplications, including segmental duplications adjacent to both the centromere and the large heterochromatic block. We have annotated 1,149 genes, including genes implicated in male-to-female sex reversal, cancer and neurodegenerative disease, and 426 pseudogenes. The chromosome contains the largest interferon gene cluster in the human genome. There is also a region of exceptionally high gene and G + C content including genes paralogous to those in the major histocompatibility complex. We have also detected recently duplicated genes that exhibit different rates of sequence divergence, presumably reflecting natural selection.
DrugBank Data that Cites this Article
- Polypeptides
Name UniProt ID Tyrosine-protein kinase ABL1 P00519 Details Prostaglandin G/H synthase 1 P23219 Details Delta-aminolevulinic acid dehydratase P13716 Details ATP-binding cassette sub-family A member 1 O95477 Details Dopamine beta-hydroxylase P09172 Details Sigma non-opioid intracellular receptor 1 Q99720 Details Beta-1,4-galactosyltransferase 1 P15291 Details Kynurenine--oxoglutarate transaminase 1 Q16773 Details HCG20471, isoform CRA_c Q5T1J1 Details Testosterone 17-beta-dehydrogenase 3 P37058 Details Glutamate receptor ionotropic, NMDA 1 Q05586 Details NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 P51970 Details Riboflavin kinase Q969G6 Details NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 O95139 Details Retinoic acid receptor RXR-alpha P19793 Details Interleukin-11 receptor subunit alpha Q14626 Details Serine palmitoyltransferase 1 O15269 Details Ceramide glucosyltransferase Q16739 Details Aldehyde dehydrogenase X, mitochondrial P30837 Details Isoleucine--tRNA ligase, cytoplasmic P41252 Details Carnitine O-acetyltransferase P43155 Details Retinal dehydrogenase 1 P00352 Details Phosphoserine aminotransferase Q9Y617 Details Glycine dehydrogenase (decarboxylating), mitochondrial P23378 Details Glutamate receptor ionotropic, NMDA 3A Q8TCU5 Details Folylpolyglutamate synthase, mitochondrial Q05932 Details Alpha-1-acid glycoprotein 1 P02763 Details Protein AMBP P02760 Details Atrial natriuretic peptide receptor 2 P20594 Details Excitatory amino acid transporter 3 P43005 Details Choline transporter-like protein 1 Q8WWI5 Details Neutrophil gelatinase-associated lipocalin P80188 Details 78 kDa glucose-regulated protein P11021 Details S-methyl-5'-thioadenosine phosphorylase Q13126 Details Tyrosine-protein kinase SYK P43405 Details Tubulin beta-4B chain P68371 Details Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase Q9UKM7 Details Trypsin-3 P35030 Details Death-associated protein kinase 1 P53355 Details Cathepsin L2 O60911 Details Cathepsin L1 P07711 Details Calcineurin subunit B type 2 Q96LZ3 Details Cyclin-dependent kinase 9 P50750 Details Voltage-dependent N-type calcium channel subunit alpha-1B Q00975 Details Bile acid-CoA:amino acid N-acyltransferase Q14032 Details Gamma-aminobutyric acid type B receptor subunit 2 O75899 Details Tyrosine-protein kinase JAK2 O60674 Details Fructose-1,6-bisphosphatase 1 P09467 Details Carbonic anhydrase 9 Q16790 Details Toll-like receptor 4 O00206 Details Golgi-associated plant pathogenesis-related protein 1 Q9H4G4 Details Complement component C8 gamma chain P07360 Details Steroidogenic factor 1 Q13285 Details Angiopoietin-1 receptor Q02763 Details Programmed cell death 1 ligand 1 Q9NZQ7 Details Endoglin P17813 Details Nuclear receptor ROR-beta Q92753 Details BDNF/NT-3 growth factors receptor Q16620 Details DNA polymerase epsilon subunit 3 Q9NRF9 Details High affinity copper uptake protein 1 O15431 Details Alpha-1-acid glycoprotein 2 P19652 Details Solute carrier family 28 member 3 Q9HAS3 Details BAG family molecular chaperone regulator 1 Q99933 Details TGF-beta receptor type-1 P36897 Details Prostaglandin reductase 1 Q14914 Details Proteasome subunit beta type-7 Q99436 Details Glycodelin P09466 Details Very low-density lipoprotein receptor P98155 Details Gelsolin P06396 Details Epididymal-specific lipocalin-9 Q8WX39 Details Glycosyltransferase 6 domain-containing protein 1 Q7Z4J2 Details Bile salt-activated lipase P19835 Details Adenylate kinase 8 Q96MA6 Details Neuronal calcium sensor 1 P62166 Details Fructose-bisphosphate aldolase B P05062 Details Transitional endoplasmic reticulum ATPase P55072 Details Intracellular hyaluronan-binding protein 4 Q5JVS0 Details Thioredoxin P10599 Details Transient receptor potential cation channel subfamily M member 6 Q9BX84 Details Cytoplasmic aconitate hydratase P21399 Details Solute carrier family 2, facilitated glucose transporter member 6 Q9UGQ3 Details Solute carrier family 2, facilitated glucose transporter member 8 Q9NY64 Details Lipocalin-1 P31025 Details Odorant-binding protein 2a Q9NY56 Details Sodium-dependent phosphate transport protein 2C Q8N130 Details Frataxin, mitochondrial Q16595 Details Nuclear receptor subfamily 4 group A member 3 Q92570 Details Heterogeneous nuclear ribonucleoprotein K P61978 Details Pappalysin-1 Q13219 Details 60S ribosomal protein L35 P42766 Details A disintegrin and metalloproteinase with thrombospondin motifs 13 Q76LX8 Details Dual specificity testis-specific protein kinase 1 Q15569 Details Maternal embryonic leucine zipper kinase Q14680 Details Muscle, skeletal receptor tyrosine-protein kinase O15146 Details Aquaporin-3 Q92482 Details Transient receptor potential cation channel subfamily M member 3 Q9HCF6 Details Potassium voltage-gated channel subfamily V member 2 Q8TDN2 Details Prostaglandin-H2 D-isomerase P41222 Details Sphingosine 1-phosphate receptor 3 Q99500 Details V-type proton ATPase subunit G 1 O75348 Details Aquaporin-7 O14520 Details Cell surface hyaluronidase Q9UHN6 Details Interleukin-33 O95760 Details cAMP-dependent protein kinase catalytic subunit gamma P22612 Details