The DNA sequence and comparative analysis of human chromosome 20

P Deloukas; L H Matthews; J Ashurst; J Burton; J G Gilbert; M Jones; G Stavrides; J P Almeida; A K Babbage; C L Bagguley; J Bailey; K F Barlow; K N Bates; L M Beard; D M Beare; O P Beasley; C P Bird; S E Blakey; A M Bridgeman; A J Brown; D Buck; W Burrill; A P Butler; C Carder; N P Carter; J C Chapman; M Clamp; G Clark; L N Clark; S Y Clark; C M Clee; S Clegg; V E Cobley; R E Collier; R Connor; N R Corby; A Coulson; G J Coville; R Deadman; P Dhami; M Dunn; A G Ellington; J A Frankland; A Fraser; L French; P Garner; D V Grafham; C Griffiths; M N Griffiths; R Gwilliam; R E Hall; S Hammond; J L Harley; P D Heath; S Ho; J L Holden; P J Howden; E Huckle; A R Hunt; S E Hunt; K Jekosch; C M Johnson; D Johnson; M P Kay; A M Kimberley; A King; A Knights; G K Laird; S Lawlor; M H Lehvaslaiho; M Leversha; C Lloyd; D M Lloyd; J D Lovell; V L Marsh; S L Martin; L J McConnachie; K McLay; A A McMurray; S Milne; D Mistry; M J Moore; J C Mullikin; T Nickerson; K Oliver; A Parker; R Patel; T A Pearce; A I Peck; B J Phillimore; S R Prathalingam; R W Plumb; H Ramsay; C M Rice; M T Ross; C E Scott; H K Sehra; R Shownkeen; S Sims; C D Skuce; M L Smith; C Soderlund; C A Steward; J E Sulston; M Swann; N Sycamore; R Taylor; L Tee; D W Thomas; A Thorpe; A Tracey; A C Tromans; M Vaudin; M Wall; J M Wallis; S L Whitehead; P Whittaker; D L Willey; L Williams; S A Williams; L Wilming; P W Wray; T Hubbard; R M Durbin; D R Bentley; S Beck; J Rogers

doi:10.1038/414865a

The DNA sequence and comparative analysis of human chromosome 20

P Deloukas, L H Matthews, J Ashurst, J Burton, J G Gilbert, M Jones, G Stavrides, J P Almeida, A K Babbage, C L Bagguley, J Bailey, K F Barlow, K N Bates, L M Beard, D M Beare, O P Beasley, C P Bird, S E Blakey, A M Bridgeman, A J BrownD Buck, W Burrill, A P Butler, C Carder, N P Carter, J C Chapman, M Clamp, G Clark, L N Clark, S Y Clark, C M Clee, S Clegg, V E Cobley, R E Collier, R Connor, N R Corby, A Coulson, G J Coville, R Deadman, P Dhami, M Dunn, A G Ellington, J A Frankland, A Fraser, L French, P Garner, D V Grafham, C Griffiths, M N Griffiths, R Gwilliam, R E Hall, S Hammond, J L Harley, P D Heath, S Ho, J L Holden, P J Howden, E Huckle, A R Hunt, S E Hunt, K Jekosch, C M Johnson, D Johnson, M P Kay, A M Kimberley, A King, A Knights, G K Laird, S Lawlor, M H Lehvaslaiho, M Leversha, C Lloyd, D M Lloyd, J D Lovell, V L Marsh, S L Martin, L J McConnachie, K McLay, A A McMurray, S Milne, D Mistry, M J Moore, J C Mullikin, T Nickerson, K Oliver, A Parker, R Patel, T A Pearce, A I Peck, B J Phillimore, S R Prathalingam, R W Plumb, H Ramsay, C M Rice, M T Ross, C E Scott, H K Sehra, R Shownkeen, S Sims, C D Skuce, M L Smith, C Soderlund, C A Steward, J E Sulston, M Swann, N Sycamore, R Taylor, L Tee, D W Thomas, A Thorpe, A Tracey, A C Tromans, M Vaudin, M Wall, J M Wallis, S L Whitehead, P Whittaker, D L Willey, L Williams, S A Williams, L Wilming, P W Wray, T Hubbard, R M Durbin, D R Bentley, S Beck, J Rogers

Medical & Molecular Genetics

Wellcome Sanger Institute

Research output: Contribution to journal › Article › peer-review

180 Citations (Scopus)

Abstract

The finished sequence of human chromosome 20 comprises 59,187,298 base pairs (bp) and represents 99.4% of the euchromatic DNA. A single contig of 26 megabases (Mb) spans the entire short arm, and five contigs separated by gaps totalling 320 kb span the long arm of this metacentric chromosome. An additional 234,339 bp of sequence has been determined within the pericentromeric region of the long arm. We annotated 727 genes and 168 pseudogenes in the sequence. About 64% of these genes have a 5' and a 3' untranslated region and a complete open reading frame. Comparative analysis of the sequence of chromosome 20 to whole-genome shotgun-sequence data of two other vertebrates, the mouse Mus musculus and the puffer fish Tetraodon nigroviridis, provides an independent measure of the efficiency of gene annotation, and indicates that this analysis may account for more than 95% of all coding exons and almost all genes.

Original language	English
Pages (from-to)	865-871
Number of pages	7
Journal	NATURE
Volume	414
Issue number	6866
DOIs	https://doi.org/10.1038/414865a
Publication status	Published - 20 Dec 2001

Keywords

Animals
Base Sequence
Chromosomes, Human, Pair 20
Computational Biology
Contig Mapping
DNA
Genetic Diseases, Inborn
Genetic Variation
Humans
Mice
Physical Chromosome Mapping
Proteome
Sequence Analysis, DNA

Access to Document

10.1038/414865a

Cite this

Deloukas, P., Matthews, L. H., Ashurst, J., Burton, J., Gilbert, J. G., Jones, M., Stavrides, G., Almeida, J. P., Babbage, A. K., Bagguley, C. L., Bailey, J., Barlow, K. F., Bates, K. N., Beard, L. M., Beare, D. M., Beasley, O. P., Bird, C. P., Blakey, S. E., Bridgeman, A. M., ... Rogers, J. (2001). The DNA sequence and comparative analysis of human chromosome 20. NATURE, 414(6866), 865-871. https://doi.org/10.1038/414865a

@article{d3efb4f31594405c875b59bf1b118f4b,

title = "The DNA sequence and comparative analysis of human chromosome 20",

abstract = "The finished sequence of human chromosome 20 comprises 59,187,298 base pairs (bp) and represents 99.4% of the euchromatic DNA. A single contig of 26 megabases (Mb) spans the entire short arm, and five contigs separated by gaps totalling 320 kb span the long arm of this metacentric chromosome. An additional 234,339 bp of sequence has been determined within the pericentromeric region of the long arm. We annotated 727 genes and 168 pseudogenes in the sequence. About 64% of these genes have a 5' and a 3' untranslated region and a complete open reading frame. Comparative analysis of the sequence of chromosome 20 to whole-genome shotgun-sequence data of two other vertebrates, the mouse Mus musculus and the puffer fish Tetraodon nigroviridis, provides an independent measure of the efficiency of gene annotation, and indicates that this analysis may account for more than 95% of all coding exons and almost all genes.",

keywords = "Animals, Base Sequence, Chromosomes, Human, Pair 20, Computational Biology, Contig Mapping, DNA, Genetic Diseases, Inborn, Genetic Variation, Humans, Mice, Physical Chromosome Mapping, Proteome, Sequence Analysis, DNA",

author = "P Deloukas and Matthews, {L H} and J Ashurst and J Burton and Gilbert, {J G} and M Jones and G Stavrides and Almeida, {J P} and Babbage, {A K} and Bagguley, {C L} and J Bailey and Barlow, {K F} and Bates, {K N} and Beard, {L M} and Beare, {D M} and Beasley, {O P} and Bird, {C P} and Blakey, {S E} and Bridgeman, {A M} and Brown, {A J} and D Buck and W Burrill and Butler, {A P} and C Carder and Carter, {N P} and Chapman, {J C} and M Clamp and G Clark and Clark, {L N} and Clark, {S Y} and Clee, {C M} and S Clegg and Cobley, {V E} and Collier, {R E} and R Connor and Corby, {N R} and A Coulson and Coville, {G J} and R Deadman and P Dhami and M Dunn and Ellington, {A G} and Frankland, {J A} and A Fraser and L French and P Garner and Grafham, {D V} and C Griffiths and Griffiths, {M N} and R Gwilliam and Hall, {R E} and S Hammond and Harley, {J L} and Heath, {P D} and S Ho and Holden, {J L} and Howden, {P J} and E Huckle and Hunt, {A R} and Hunt, {S E} and K Jekosch and Johnson, {C M} and D Johnson and Kay, {M P} and Kimberley, {A M} and A King and A Knights and Laird, {G K} and S Lawlor and Lehvaslaiho, {M H} and M Leversha and C Lloyd and Lloyd, {D M} and Lovell, {J D} and Marsh, {V L} and Martin, {S L} and McConnachie, {L J} and K McLay and McMurray, {A A} and S Milne and D Mistry and Moore, {M J} and Mullikin, {J C} and T Nickerson and K Oliver and A Parker and R Patel and Pearce, {T A} and Peck, {A I} and Phillimore, {B J} and Prathalingam, {S R} and Plumb, {R W} and H Ramsay and Rice, {C M} and Ross, {M T} and Scott, {C E} and Sehra, {H K} and R Shownkeen and S Sims and Skuce, {C D} and Smith, {M L} and C Soderlund and Steward, {C A} and Sulston, {J E} and M Swann and N Sycamore and R Taylor and L Tee and Thomas, {D W} and A Thorpe and A Tracey and Tromans, {A C} and M Vaudin and M Wall and Wallis, {J M} and Whitehead, {S L} and P Whittaker and Willey, {D L} and L Williams and Williams, {S A} and L Wilming and Wray, {P W} and T Hubbard and Durbin, {R M} and Bentley, {D R} and S Beck and J Rogers",

year = "2001",

month = dec,

day = "20",

doi = "10.1038/414865a",

language = "English",

volume = "414",

pages = "865--871",

journal = "NATURE",

issn = "0028-0836",

publisher = "Nature Publishing Group",

number = "6866",

}

Deloukas, P, Matthews, LH, Ashurst, J, Burton, J, Gilbert, JG, Jones, M, Stavrides, G, Almeida, JP, Babbage, AK, Bagguley, CL, Bailey, J, Barlow, KF, Bates, KN, Beard, LM, Beare, DM, Beasley, OP, Bird, CP, Blakey, SE, Bridgeman, AM, Brown, AJ, Buck, D, Burrill, W, Butler, AP, Carder, C, Carter, NP, Chapman, JC, Clamp, M, Clark, G, Clark, LN, Clark, SY, Clee, CM, Clegg, S, Cobley, VE, Collier, RE, Connor, R, Corby, NR, Coulson, A, Coville, GJ, Deadman, R, Dhami, P, Dunn, M, Ellington, AG, Frankland, JA, Fraser, A, French, L, Garner, P, Grafham, DV, Griffiths, C, Griffiths, MN, Gwilliam, R, Hall, RE, Hammond, S, Harley, JL, Heath, PD, Ho, S, Holden, JL, Howden, PJ, Huckle, E, Hunt, AR, Hunt, SE, Jekosch, K, Johnson, CM, Johnson, D, Kay, MP, Kimberley, AM, King, A, Knights, A, Laird, GK, Lawlor, S, Lehvaslaiho, MH, Leversha, M, Lloyd, C, Lloyd, DM, Lovell, JD, Marsh, VL, Martin, SL, McConnachie, LJ, McLay, K, McMurray, AA, Milne, S, Mistry, D, Moore, MJ, Mullikin, JC, Nickerson, T, Oliver, K, Parker, A, Patel, R, Pearce, TA, Peck, AI, Phillimore, BJ, Prathalingam, SR, Plumb, RW, Ramsay, H, Rice, CM, Ross, MT, Scott, CE, Sehra, HK, Shownkeen, R, Sims, S, Skuce, CD, Smith, ML, Soderlund, C, Steward, CA, Sulston, JE, Swann, M, Sycamore, N, Taylor, R, Tee, L, Thomas, DW, Thorpe, A, Tracey, A, Tromans, AC, Vaudin, M, Wall, M, Wallis, JM, Whitehead, SL, Whittaker, P, Willey, DL, Williams, L, Williams, SA, Wilming, L, Wray, PW, Hubbard, T, Durbin, RM, Bentley, DR, Beck, S & Rogers, J 2001, 'The DNA sequence and comparative analysis of human chromosome 20', NATURE, vol. 414, no. 6866, pp. 865-871. https://doi.org/10.1038/414865a

TY - JOUR

T1 - The DNA sequence and comparative analysis of human chromosome 20

AU - Deloukas, P

AU - Matthews, L H

AU - Ashurst, J

AU - Burton, J

AU - Gilbert, J G

AU - Jones, M

AU - Stavrides, G

AU - Almeida, J P

AU - Babbage, A K

AU - Bagguley, C L

AU - Bailey, J

AU - Barlow, K F

AU - Bates, K N

AU - Beard, L M

AU - Beare, D M

AU - Beasley, O P

AU - Bird, C P

AU - Blakey, S E

AU - Bridgeman, A M

AU - Brown, A J

AU - Buck, D

AU - Burrill, W

AU - Butler, A P

AU - Carder, C

AU - Carter, N P

AU - Chapman, J C

AU - Clamp, M

AU - Clark, G

AU - Clark, L N

AU - Clark, S Y

AU - Clee, C M

AU - Clegg, S

AU - Cobley, V E

AU - Collier, R E

AU - Connor, R

AU - Corby, N R

AU - Coulson, A

AU - Coville, G J

AU - Deadman, R

AU - Dhami, P

AU - Dunn, M

AU - Ellington, A G

AU - Frankland, J A

AU - Fraser, A

AU - French, L

AU - Garner, P

AU - Grafham, D V

AU - Griffiths, C

AU - Griffiths, M N

AU - Gwilliam, R

AU - Hall, R E

AU - Hammond, S

AU - Harley, J L

AU - Heath, P D

AU - Ho, S

AU - Holden, J L

AU - Howden, P J

AU - Huckle, E

AU - Hunt, A R

AU - Hunt, S E

AU - Jekosch, K

AU - Johnson, C M

AU - Johnson, D

AU - Kay, M P

AU - Kimberley, A M

AU - King, A

AU - Knights, A

AU - Laird, G K

AU - Lawlor, S

AU - Lehvaslaiho, M H

AU - Leversha, M

AU - Lloyd, C

AU - Lloyd, D M

AU - Lovell, J D

AU - Marsh, V L

AU - Martin, S L

AU - McConnachie, L J

AU - McLay, K

AU - McMurray, A A

AU - Milne, S

AU - Mistry, D

AU - Moore, M J

AU - Mullikin, J C

AU - Nickerson, T

AU - Oliver, K

AU - Parker, A

AU - Patel, R

AU - Pearce, T A

AU - Peck, A I

AU - Phillimore, B J

AU - Prathalingam, S R

AU - Plumb, R W

AU - Ramsay, H

AU - Rice, C M

AU - Ross, M T

AU - Scott, C E

AU - Sehra, H K

AU - Shownkeen, R

AU - Sims, S

AU - Skuce, C D

AU - Smith, M L

AU - Soderlund, C

AU - Steward, C A

AU - Sulston, J E

AU - Swann, M

AU - Sycamore, N

AU - Taylor, R

AU - Tee, L

AU - Thomas, D W

AU - Thorpe, A

AU - Tracey, A

AU - Tromans, A C

AU - Vaudin, M

AU - Wall, M

AU - Wallis, J M

AU - Whitehead, S L

AU - Whittaker, P

AU - Willey, D L

AU - Williams, L

AU - Williams, S A

AU - Wilming, L

AU - Wray, P W

AU - Hubbard, T

AU - Durbin, R M

AU - Bentley, D R

AU - Beck, S

AU - Rogers, J

PY - 2001/12/20

Y1 - 2001/12/20

N2 - The finished sequence of human chromosome 20 comprises 59,187,298 base pairs (bp) and represents 99.4% of the euchromatic DNA. A single contig of 26 megabases (Mb) spans the entire short arm, and five contigs separated by gaps totalling 320 kb span the long arm of this metacentric chromosome. An additional 234,339 bp of sequence has been determined within the pericentromeric region of the long arm. We annotated 727 genes and 168 pseudogenes in the sequence. About 64% of these genes have a 5' and a 3' untranslated region and a complete open reading frame. Comparative analysis of the sequence of chromosome 20 to whole-genome shotgun-sequence data of two other vertebrates, the mouse Mus musculus and the puffer fish Tetraodon nigroviridis, provides an independent measure of the efficiency of gene annotation, and indicates that this analysis may account for more than 95% of all coding exons and almost all genes.

AB - The finished sequence of human chromosome 20 comprises 59,187,298 base pairs (bp) and represents 99.4% of the euchromatic DNA. A single contig of 26 megabases (Mb) spans the entire short arm, and five contigs separated by gaps totalling 320 kb span the long arm of this metacentric chromosome. An additional 234,339 bp of sequence has been determined within the pericentromeric region of the long arm. We annotated 727 genes and 168 pseudogenes in the sequence. About 64% of these genes have a 5' and a 3' untranslated region and a complete open reading frame. Comparative analysis of the sequence of chromosome 20 to whole-genome shotgun-sequence data of two other vertebrates, the mouse Mus musculus and the puffer fish Tetraodon nigroviridis, provides an independent measure of the efficiency of gene annotation, and indicates that this analysis may account for more than 95% of all coding exons and almost all genes.

KW - Animals

KW - Base Sequence

KW - Chromosomes, Human, Pair 20

KW - Computational Biology

KW - Contig Mapping

KW - DNA

KW - Genetic Diseases, Inborn

KW - Genetic Variation

KW - Humans

KW - Mice

KW - Physical Chromosome Mapping

KW - Proteome

KW - Sequence Analysis, DNA

U2 - 10.1038/414865a

DO - 10.1038/414865a

M3 - Article

C2 - 11780052

SN - 0028-0836

VL - 414

SP - 865

EP - 871

JO - NATURE

JF - NATURE

IS - 6866

ER -

The DNA sequence and comparative analysis of human chromosome 20

Abstract

Keywords

Access to Document

Fingerprint

Cite this