Analysis of the DNA sequence and duplication history of human chromosome 15.
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Zody MC, Garber M, Sharpe T, Young SK, Rowen L, O'Neill K, Whittaker CA, Kamal M, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Kodira CD, Madan A, Qin S, Yang X, Abbasi N, Abouelleil A, Arachchi HM, Baradarani L, Birditt B, Bloom S, Bloom T, Borowsky ML, Burke J, Butler J, Cook A, DeArellano K, DeCaprio D, Dorris L 3rd, Dors M, Eichler EE, Engels R, Fahey J, Fleetwood P, Friedman C, Gearin G, Hall JL, Hensley G, Johnson E, Jones C, Kamat A, Kaur A, Locke DP, Madan A, Munson G, Jaffe DB, Lui A, Macdonald P, Mauceli E, Naylor JW, Nesbitt R, Nicol R, O'Leary SB, Ratcliffe A, Rounsley S, She X, Sneddon KM, Stewart S, Sougnez C, Stone SM, Topham K, Vincent D, Wang S, Zimmer AR, Birren BW, Hood L, Lander ES, Nusbaum C
Analysis of the DNA sequence and duplication history of human chromosome 15.
Nature. 2006 Mar 30;440(7084):671-5.
- PubMed ID
- 16572171 [ View in PubMed]
- Abstract
Here we present a finished sequence of human chromosome 15, together with a high-quality gene catalogue. As chromosome 15 is one of seven human chromosomes with a high rate of segmental duplication, we have carried out a detailed analysis of the duplication structure of the chromosome. Segmental duplications in chromosome 15 are largely clustered in two regions, on proximal and distal 15q; the proximal region is notable because recombination among the segmental duplications can result in deletions causing Prader-Willi and Angelman syndromes. Sequence analysis shows that the proximal and distal regions of 15q share extensive ancient similarity. Using a simple approach, we have been able to reconstruct many of the events by which the current duplication structure arose. We find that most of the intrachromosomal duplications seem to share a common ancestry. Finally, we demonstrate that some remaining gaps in the genome sequence are probably due to structural polymorphisms between haplotypes; this may explain a significant fraction of the gaps remaining in the human genome.
DrugBank Data that Cites this Article
- Polypeptides
Name UniProt ID Histidine decarboxylase P19113 Details Pyruvate kinase PKM P14618 Details Solute carrier family 12 member 6 Q9UHW9 Details Sorbitol dehydrogenase Q00796 Details Glycine amidinotransferase, mitochondrial P50440 Details Isovaleryl-CoA dehydrogenase, mitochondrial P26440 Details Solute carrier family 12 member 1 Q13621 Details Retinal dehydrogenase 2 O94788 Details Insulin-like growth factor 1 receptor P08069 Details Aminopeptidase N P15144 Details Microtubule-associated protein 1A P78559 Details Annexin A2 P07355 Details Aromatase P11511 Details Methionyl-tRNA formyltransferase, mitochondrial Q96DP5 Details Peptidyl-prolyl cis-trans isomerase B P23284 Details Neuronal acetylcholine receptor subunit alpha-7 P36544 Details Gamma-aminobutyric acid receptor subunit beta-3 P28472 Details Disintegrin and metalloproteinase domain-containing protein 10 O14672 Details DNA repair protein RAD51 homolog 1 Q06609 Details Phosphopantothenoylcysteine decarboxylase Q96CD2 Details Endonuclease 8-like 1 Q96FI4 Details Calpain-3 P20807 Details Cholesterol side-chain cleavage enzyme, mitochondrial P05108 Details Cytochrome P450 1A1 P04798 Details Neuronal acetylcholine receptor subunit beta-4 P30926 Details Neuronal acetylcholine receptor subunit alpha-3 P32297 Details Gamma-aminobutyric acid receptor subunit gamma-3 Q99928 Details Solute carrier organic anion transporter family member 3A1 Q9UIG8 Details High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A O60658 Details Proteasome subunit alpha type-4 P25789 Details Ammonium transporter Rh type C Q9UBD6 Details CHRNA7-FAM7A fusion protein Q494W8 Details Pro-cathepsin H P09668 Details Cytochrome c oxidase subunit 5A, mitochondrial P20674 Details Dual specificity protein kinase CLK3 P49761 Details Elongation factor-like GTPase 1 Q7Z2Z2 Details Lactase-like protein Q6UWM7 Details Long-chain-fatty-acid--CoA ligase ACSBG1 Q96GR2 Details Ras-related protein Rab-8B Q92930 Details Signal recognition particle 14 kDa protein P37108 Details Isocitrate dehydrogenase [NADP], mitochondrial P48735 Details Fumarylacetoacetase P16930 Details Unconventional myosin-Ie Q12965 Details Nuclear receptor ROR-alpha P35398 Details Ras-related protein Rab-11A P62491 Details Neutral alpha-glucosidase C Q8TET4 Details Sodium/nucleoside cotransporter 1 O00337 Details Ryanodine receptor 3 Q15413 Details Protein PML P29590 Details Calcium and integrin-binding family member 2 O75838 Details Tropomyosin alpha-1 chain P09493 Details Small ribosomal subunit protein eS17 P08708 Details Serine/threonine-protein kinase ULK3 Q6PHR2 Details Death-associated protein kinase 2 Q9UIK4 Details eIF-2-alpha kinase GCN2 Q9P2K8 Details Tyrosine-protein kinase Fes/Fps P07332 Details Leukocyte tyrosine kinase receptor P29376 Details Dual specificity mitogen-activated protein kinase kinase 5 Q13163 Details NT-3 growth factor receptor Q16288 Details Serine/threonine-protein kinase PAK 6 Q9NQU5 Details Long-chain fatty acid transport protein 2 O14975 Details Receptor for retinol uptake STRA6 Q9BX79 Details Aquaporin-9 O43315 Details Perilipin-1 O60240 Details