DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

Article Details


Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR, Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR, Bi W, Bloom T, Borowsky ML, Bugalter BE, Butler J, Chang JL, Chen CK, Cook A, Corum B, Cuomo CA, de Jong PJ, DeCaprio D, Dewar K, FitzGerald M, Gilbert J, Gibson R, Gnerre S, Goldstein S, Grafham DV, Grocock R, Hafez N, Hagopian DS, Hart E, Norman CH, Humphray S, Jaffe DB, Jones M, Kamal M, Khodiyar VK, LaButti K, Laird G, Lehoczky J, Liu X, Lokyitsang T, Loveland J, Lui A, Macdonald P, Major JE, Matthews L, Mauceli E, McCarroll SA, Mihalev AH, Mudge J, Nguyen C, Nicol R, O'Leary SB, Osoegawa K, Schwartz DC, Shaw-Smith C, Stankiewicz P, Steward C, Swarbreck D, Venkataraman V, Whittaker CA, Yang X, Zimmer AR, Bradley A, Hubbard T, Birren BW, Rogers J, Lander ES, Nusbaum C

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

Nature. 2006 Apr 20;440(7087):1045-9.

PubMed ID
16625196 [ View in PubMed

Chromosome 17 is unusual among the human chromosomes in many respects. It is the largest human autosome with orthology to only a single mouse chromosome, mapping entirely to the distal half of mouse chromosome 11. Chromosome 17 is rich in protein-coding genes, having the second highest gene density in the genome. It is also enriched in segmental duplications, ranking third in density among the autosomes. Here we report a finished sequence for human chromosome 17, as well as a structural comparison with the finished sequence for mouse chromosome 11, the first finished mouse chromosome. Comparison of the orthologous regions reveals striking differences. In contrast to the typical pattern seen in mammalian evolution, the human sequence has undergone extensive intrachromosomal rearrangement, whereas the mouse sequence has been remarkably stable. Moreover, although the human sequence has a high density of segmental duplication, the mouse sequence has a very low density. Notably, these segmental duplications correspond closely to the sites of structural rearrangement, demonstrating a link between duplication and rearrangement. Examination of the main classes of duplicated segments provides insight into the dynamics underlying expansion of chromosome-specific, low-copy repeats in the human genome.

DrugBank Data that Cites this Article

NameUniProt ID
DNA ligase 3P49916Details
Pyridoxine-5'-phosphate oxidaseQ9NVS9Details
Estradiol 17-beta-dehydrogenase 1P14061Details
Angiotensin-converting enzymeP12821Details
Pyrroline-5-carboxylate reductase 1, mitochondrialP32322Details
Arachidonate 15-lipoxygenaseP16050Details
Serine hydroxymethyltransferase, cytosolicP34896Details
Monocarboxylate transporter 6O15375Details
Integrin alpha-IIbP08514Details
Solute carrier family 13 member 2Q13183Details
Glutamate receptor ionotropic, NMDA 2CQ14957Details
Voltage-dependent T-type calcium channel subunit alpha-1GO43497Details
Carbonic anhydrase 4P22748Details
Retinoic acid receptor alphaP10276Details
Acid-sensing ion channel 2Q16515Details
Sex hormone-binding globulinP04278Details
Aldehyde dehydrogenase, dimeric NADP-preferringP30838Details
DNA topoisomerase 2-alphaP11388Details
Receptor activity-modifying protein 2O60895Details
Lysosomal alpha-glucosidaseP10253Details
Solute carrier family 2, facilitated glucose transporter member 4P14672Details
Growth factor receptor-bound protein 2P62993Details
Phosphatidylcholine transfer proteinQ9UKL6Details
Fatty acid synthaseP49327Details
Membrane primary amine oxidaseQ16853Details
Transient receptor potential cation channel subfamily V member 1Q8NER1Details
Platelet glycoprotein Ib alpha chainP07359Details
Canalicular multispecific organic anion transporter 2O15438Details
Protein kinase C alpha typeP17252Details
Sodium channel protein type 4 subunit alphaP35499Details
Asialoglycoprotein receptor 2P07307Details
Phospholipase D2O14939Details
Phosphoethanolamine/phosphocholine phosphataseQ8TCT1Details
Phosphoribosylformylglycinamidine synthaseO15067Details
Telomerase-binding protein EST1AQ86US8Details
Nucleoside diphosphate kinase AP15531Details
Nucleoside diphosphate kinase BP22392Details
Integrin beta-4P16144Details
Cellular tumor antigen p53P04637Details
Aurora kinase BQ96GD4Details
Baculoviral IAP repeat-containing protein 5O15392Details
Puromycin-sensitive aminopeptidaseP55786Details
cAMP-dependent protein kinase type I-alpha regulatory subunitP10644Details
Signal transducer and activator of transcription 3P40763Details
Microtubule-associated protein tauP10636Details
Histone deacetylase 5Q9UQL6Details
Carbonic anhydrase-related protein 10Q9NS85Details
Matrix metalloproteinase-28Q9H239Details
Tubulin delta chainQ9UJT1Details
Serine/threonine-protein kinase haspinQ8TF76Details
Serine/threonine-protein kinase/endoribonuclease IRE1O75460Details
Peroxisomal acyl-coenzyme A oxidase 1Q15067Details
[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrialQ15119Details
NADPH:adrenodoxin oxidoreductase, mitochondrialP22570Details
Vesicle-fusing ATPaseP46459Details
Disks large homolog 4P78352Details
Carboxypeptidase DO75976Details
Serotonin N-acetyltransferaseQ16613Details
Acetylcholine receptor subunit betaP11230Details
Sphingosine kinase 1Q9NYA1Details
Ethanolamine-phosphate cytidylyltransferaseQ99447Details
5'(3')-deoxyribonucleotidase, cytosolic typeQ8TCD5Details
Sterol regulatory element-binding protein 1P36956Details
Corticotropin-releasing factor receptor 1P34998Details
Solute carrier family 13 member 5Q86YT5Details
Eukaryotic initiation factor 4A-IP60842Details
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1Q969G3Details
Keratin, type I cytoskeletal 10P13645Details
Keratin, type I cytoskeletal 9P35527Details
Pigment epithelium-derived factorP36955Details
Junction plakoglobinP14923Details
Keratin, type I cytoskeletal 14P02533Details
Transient receptor potential cation channel subfamily V member 2Q9Y5S1Details
Probable ATP-dependent RNA helicase DDX5P17844Details
Serine/threonine-protein kinase TAO1Q7L7X3Details
Serine/threonine-protein kinase ULK2Q8IYT8Details
Mitogen-activated protein kinase kinase kinase 3Q99759Details
Misshapen-like kinase 1Q8N4C8Details
Insulin-like growth factor-binding protein 4P22692Details
P2X purinoceptor 5Q93086Details
Histone-lysine N-methyltransferase EZH1Q92800Details
ATP-citrate synthaseP53396Details
Zinc transporter ZIP11Q8N1S5Details
Diacylglycerol kinase epsilonP52429Details
V-type proton ATPase 116 kDa subunit a isoform 1Q93050Details
Dual specificity mitogen-activated protein kinase kinase 4P45985Details
Asialoglycoprotein receptor 1P07306Details