The sequence and analysis of duplication-rich human chromosome 16.
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Martin J, Han C, Gordon LA, Terry A, Prabhakar S, She X, Xie G, Hellsten U, Chan YM, Altherr M, Couronne O, Aerts A, Bajorek E, Black S, Blumer H, Branscomb E, Brown NC, Bruno WJ, Buckingham JM, Callen DF, Campbell CS, Campbell ML, Campbell EW, Caoile C, Challacombe JF, Chasteen LA, Chertkov O, Chi HC, Christensen M, Clark LM, Cohn JD, Denys M, Detter JC, Dickson M, Dimitrijevic-Bussod M, Escobar J, Fawcett JJ, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Goodwin LA, Grady DL, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Hildebrand CE, Huang W, Israni S, Jett J, Jewett PB, Kadner K, Kimball H, Kobayashi A, Krawczyk MC, Leyba T, Longmire JL, Lopez F, Lou Y, Lowry S, Ludeman T, Manohar CF, Mark GA, McMurray KL, Meincke LJ, Morgan J, Moyzis RK, Mundt MO, Munk AC, Nandkeshwar RD, Pitluck S, Pollard M, Predki P, Parson-Quintana B, Ramirez L, Rash S, Retterer J, Ricke DO, Robinson DL, Rodriguez A, Salamov A, Saunders EH, Scott D, Shough T, Stallings RL, Stalvey M, Sutherland RD, Tapia R, Tesmer JG, Thayer N, Thompson LS, Tice H, Torney DC, Tran-Gyamfi M, Tsai M, Ulanovsky LE, Ustaszewska A, Vo N, White PS, Williams AL, Wills PL, Wu JR, Wu K, Yang J, Dejong P, Bruce D, Doggett NA, Deaven L, Schmutz J, Grimwood J, Richardson P, Rokhsar DS, Eichler EE, Gilna P, Lucas SM, Myers RM, Rubin EM, Pennacchio LA
The sequence and analysis of duplication-rich human chromosome 16.
Nature. 2004 Dec 23;432(7020):988-94.
- PubMed ID
- 15616553 [ View in PubMed]
- Abstract
Human chromosome 16 features one of the highest levels of segmentally duplicated sequence among the human autosomes. We report here the 78,884,754 base pairs of finished chromosome 16 sequence, representing over 99.9% of its euchromatin. Manual annotation revealed 880 protein-coding genes confirmed by 1,670 aligned transcripts, 19 transfer RNA genes, 341 pseudogenes and three RNA pseudogenes. These genes include metallothionein, cadherin and iroquois gene families, as well as the disease genes for polycystic kidney disease and acute myelomonocytic leukaemia. Several large-scale structural polymorphisms spanning hundreds of kilobase pairs were identified and result in gene content differences among humans. Whereas the segmental duplications of chromosome 16 are enriched in the relatively gene-poor pericentromere of the p arm, some are involved in recent gene duplication and conversion events that are likely to have had an impact on the evolution of primates and human disease susceptibility.
DrugBank Data that Cites this Article
- Polypeptides
Name UniProt ID Group 10 secretory phospholipase A2 O15496 Details Ketimine reductase mu-crystallin Q14894 Details Adenine phosphoribosyltransferase P07741 Details Hemoglobin subunit alpha P69905 Details Lysine--tRNA ligase Q15046 Details NEDD8-activating enzyme E1 regulatory subunit Q13564 Details NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10 O96000 Details Methionine-R-sulfoxide reductase B1 Q9NZV6 Details Alanine--tRNA ligase, cytoplasmic P49588 Details Aspartate aminotransferase, mitochondrial P00505 Details Solute carrier family 12 member 3 P55017 Details Leucine carboxyl methyltransferase 1 Q9UIC8 Details Sodium-dependent noradrenaline transporter P23975 Details Integrin alpha-L P20701 Details Heme oxygenase 2 P30519 Details Solute carrier family 12 member 4 Q9UP95 Details 72 kDa type IV collagenase P08253 Details Vitamin K epoxide reductase complex subunit 1 Q9BQB6 Details Glutamate receptor ionotropic, NMDA 2A Q12879 Details Multidrug resistance-associated protein 1 P33527 Details Voltage-dependent T-type calcium channel subunit alpha-1H O95180 Details Sulfotransferase 1A1 P50225 Details Matrix metalloproteinase-25 (TrEMBL) O43923 Details Mitogen-activated protein kinase 3 P27361 Details NAD(P)H dehydrogenase [quinone] 1 P15559 Details 3-phosphoinositide-dependent protein kinase 1 O15530 Details Tubulin beta-3 chain Q13509 Details Tryptase beta-2 P20231 Details Fructose-bisphosphate aldolase A P04075 Details Hydroxyacylglutathione hydrolase, mitochondrial Q16775 Details Somatostatin receptor type 5 P35346 Details Pyridoxal-dependent decarboxylase domain-containing protein 1 Q6P996 Details Alanine aminotransferase 2 Q8TD30 Details CDP-diacylglycerol--inositol 3-phosphatidyltransferase O14735 Details Prolyl 3-hydroxylase OGFOD1 Q8N543 Details N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase Q9UK23 Details Sphingomyelin phosphodiesterase 3 Q9NY59 Details Glycine cleavage system H protein, mitochondrial P23434 Details Interleukin-4 receptor subunit alpha P24394 Details Liver carboxylesterase 1 P23141 Details Axin-1 O15169 Details Mesothelin Q13421 Details B-lymphocyte antigen CD19 P15391 Details Multidrug resistance-associated protein 6 O95255 Details ATP-binding cassette sub-family A member 3 Q99758 Details Tryptase alpha/beta-1 Q15661 Details Prostasin Q16651 Details Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 O14983 Details Putative inactive carboxylesterase 4 Q9UKY3 Details NmrA-like family domain-containing protein 1 Q9HBL8 Details Eukaryotic peptide chain release factor GTP-binding subunit ERF3A P15170 Details Cytochrome b5 type B O43169 Details Myosin-11 P35749 Details Elongation factor Tu, mitochondrial P49411 Details [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial O14874 Details FAD-linked sulfhydryl oxidase ALR P55789 Details Serine/threonine-protein kinase TAO2 Q9UL54 Details Thymidine kinase 2, mitochondrial O00142 Details Cocaine esterase O00748 Details Sodium/glucose cotransporter 2 P31639 Details Metallothionein-1A P04731 Details Cytochrome b-245 light chain P13498 Details Alpha-ketoglutarate-dependent dioxygenase FTO Q9C0B1 Details Apolipoprotein B receptor Q0VD83 Details Metallothionein-4 P47944 Details Metallothionein-1X P80297 Details Metallothionein-1E P04732 Details DNA-3-methyladenine glycosylase P29372 Details Nodal modulator 1 Q15155 Details Haptoglobin-related protein P00739 Details Insulin-like growth factor-binding protein complex acid labile subunit P35858 Details Sulfotransferase 1A3 P0DMM9 Details Myosin light chain kinase 3 Q32MK0 Details Membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase Q99640 Details Sulfotransferase 1A2 P50226 Details Cadherin-11 H3BUU9 Details Sulfotransferase 1A4 P0DMN0 Details Haptoglobin P00738 Details Calcium-transporting ATPase type 2C member 2 O75185 Details Tumor necrosis factor receptor superfamily member 17 Q02223 Details Dipeptidase 3 Q9H4B8 Details 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 P16885 Details Adenylate cyclase type 7 P51828 Details