The DNA sequence and biological annotation of human chromosome 1

S. G. Gregory; K. F. Barlow; K. E. McLay; R. Kaul; D. Swarbreck; A. Dunham; C. E. Scott; K. L. Howe; K. Woodfine; C. C.A. Spencer; M. C. Jones; C. Gillson; S. Searle; Y. Zhou; F. Kokocinski; L. McDonald; R. Evans; K. Phillips; A. Atkinson; R. Cooper; C. Jones; R. E. Hall; T. D. Andrews; C. Lloyd; R. Ainscough; J. P. Almeida; K. D. Ambrose; F. Anderson; R. W. Andrew; R. I.S. Ashwell; K. Aubin; A. K. Babbage; C. L. Bagguley; J. Bailey; H. Beasley; G. Bethel; C. P. Bird; S. Bray-Allen; J. Y. Brown; A. J. Brown; D. Buckley; J. Burton; J. Bye; C. Carder; J. C. Chapman; S. Y. Clark; G. Clarke; C. Clee; V. Cobley; R. E. Collier; N. Corby; G. J. Coville; J. Davies; R. Deadman; M. Dunn; M. Earthrowl; A. G. Ellington; H. Errington; A. Frankish; J. Frankland; L. French; P. Garner; J. Garnett; L. Gay; M. R.J. Ghori; R. Gibson; L. M. Gilby; W. Gillett; R. J. Glithero; D. V. Grafham; C. Griffiths; S. Griffiths-Jones; R. Grocock; S. Hammond; E. S.I. Harrison; E. Hart; E. Haugen; P. D. Heath; S. Holmes; K. Holt; P. J. Howden; A. R. Hunt; S. E. Hunt; G. Hunter; J. Isherwood; R. James; C. Johnson; D. Johnson; A. Joy; M. Kay; J. K. Kershaw; M. Kibukawa; A. M. Kimberley; A. King; A. J. Knights; H. Lad; G. Laird; S. Lawlor; D. A. Leongamornlert; D. M. Lloyd; J. Loveland; J. Lovell; M. J. Lush; R. Lyne; S. Martin; M. Mashreghi-Mohammadi; L. Matthews; N. S.W. Matthews; S. McLaren; S. Milne; S. Mistry; M. J.F. Moore; T. Nickerson; C. N. O'Dell; K. Oliver; A. Palmeiri; S. A. Palmer; A. Parker; D. Patel; A. V. Pearce; A. I. Peck; S. Pelan; K. Phelps; B. J. Phillimore; R. Plumb; J. Rajan; C. Raymond; G. Rouse; C. Saenphimmachak; H. K. Sehra; E. Sheridan; R. Shownkeen; S. Sims; C. D. Skuce; M. Smith; C. Steward; S. Subramanian; N. Sycamore; A. Tracey; A. Tromans; Z. Van Helmond; M. Wall; J. M. Wallis; S. White; S. L. Whitehead; J. E. Wilkinson; D. L. Willey; H. Williams; L. Wilming; P. W. Wray; Z. Wu; A. Coulson; M. Vaudin; J. E. Sulston; R. Durbin; T. Hubbard; R. Wooster; I. Dunham; N. P. Carter; G. McVean; M. T. Ross; J. Harrow; M. V. Olson; S. Beck; J. Rogers; D. R. Bentley

doi:10.1038/nature04727

The DNA sequence and biological annotation of human chromosome 1

S. G. Gregory^*, K. F. Barlow, K. E. McLay, R. Kaul, D. Swarbreck, A. Dunham, C. E. Scott, K. L. Howe, K. Woodfine, C. C.A. Spencer, M. C. Jones, C. Gillson, S. Searle, Y. Zhou, F. Kokocinski, L. McDonald, R. Evans, K. Phillips, A. Atkinson, R. CooperC. Jones, R. E. Hall, T. D. Andrews, C. Lloyd, R. Ainscough, J. P. Almeida, K. D. Ambrose, F. Anderson, R. W. Andrew, R. I.S. Ashwell, K. Aubin, A. K. Babbage, C. L. Bagguley, J. Bailey, H. Beasley, G. Bethel, C. P. Bird, S. Bray-Allen, J. Y. Brown, A. J. Brown, D. Buckley, J. Burton, J. Bye, C. Carder, J. C. Chapman, S. Y. Clark, G. Clarke, C. Clee, V. Cobley, R. E. Collier, N. Corby, G. J. Coville, J. Davies, R. Deadman, M. Dunn, M. Earthrowl, A. G. Ellington, H. Errington, A. Frankish, J. Frankland, L. French, P. Garner, J. Garnett, L. Gay, M. R.J. Ghori, R. Gibson, L. M. Gilby, W. Gillett, R. J. Glithero, D. V. Grafham, C. Griffiths, S. Griffiths-Jones, R. Grocock, S. Hammond, E. S.I. Harrison, E. Hart, E. Haugen, P. D. Heath, S. Holmes, K. Holt, P. J. Howden, A. R. Hunt, S. E. Hunt, G. Hunter, J. Isherwood, R. James, C. Johnson, D. Johnson, A. Joy, M. Kay, J. K. Kershaw, M. Kibukawa, A. M. Kimberley, A. King, A. J. Knights, H. Lad, G. Laird, S. Lawlor, D. A. Leongamornlert, D. M. Lloyd, J. Loveland, J. Lovell, M. J. Lush, R. Lyne, S. Martin, M. Mashreghi-Mohammadi, L. Matthews, N. S.W. Matthews, S. McLaren, S. Milne, S. Mistry, M. J.F. Moore, T. Nickerson, C. N. O'Dell, K. Oliver, A. Palmeiri, S. A. Palmer, A. Parker, D. Patel, A. V. Pearce, A. I. Peck, S. Pelan, K. Phelps, B. J. Phillimore, R. Plumb, J. Rajan, C. Raymond, G. Rouse, C. Saenphimmachak, H. K. Sehra, E. Sheridan, R. Shownkeen, S. Sims, C. D. Skuce, M. Smith, C. Steward, S. Subramanian, N. Sycamore, A. Tracey, A. Tromans, Z. Van Helmond, M. Wall, J. M. Wallis, S. White, S. L. Whitehead, J. E. Wilkinson, D. L. Willey, H. Williams, L. Wilming, P. W. Wray, Z. Wu, A. Coulson, M. Vaudin, J. E. Sulston, R. Durbin, T. Hubbard, R. Wooster, I. Dunham, N. P. Carter, G. McVean, M. T. Ross, J. Harrow, M. V. Olson, S. Beck, J. Rogers, D. R. Bentley

^*Corresponding author for this work

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

201 Citations (Scopus)

Abstract

The reference sequence for each human chromosome provides the framework for understanding genome function, variation and evolution. Here we report the finished sequence and biological annotation of human chromosome 1. Chromosome 1 is gene-dense, with 3,141 genes and 991 pseudogenes, and many coding sequences overlap. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. Fine-scale recombination occurs in hotspots of varying intensity along the sequence, and is enriched near genes. These and other studies of human biology and disease encoded within chromosome 1 are made possible with the highly accurate annotated sequence, as part of the completed set of chromosome sequences that comprise the reference human genome.

Original language	English
Pages (from-to)	315-321
Number of pages	7
Journal	Nature
Volume	441
Issue number	7091
DOIs	https://doi.org/10.1038/nature04727
Publication status	Published - 18 May 2006

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10.1038/nature04727

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Gregory, S. G., Barlow, K. F., McLay, K. E., Kaul, R., Swarbreck, D., Dunham, A., Scott, C. E., Howe, K. L., Woodfine, K., Spencer, C. C. A., Jones, M. C., Gillson, C., Searle, S., Zhou, Y., Kokocinski, F., McDonald, L., Evans, R., Phillips, K., Atkinson, A., ... Bentley, D. R. (2006). The DNA sequence and biological annotation of human chromosome 1. Nature, 441(7091), 315-321. https://doi.org/10.1038/nature04727

@article{53ed5d7bcdb5470cbefd961edc8a371b,

title = "The DNA sequence and biological annotation of human chromosome 1",

abstract = "The reference sequence for each human chromosome provides the framework for understanding genome function, variation and evolution. Here we report the finished sequence and biological annotation of human chromosome 1. Chromosome 1 is gene-dense, with 3,141 genes and 991 pseudogenes, and many coding sequences overlap. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. Fine-scale recombination occurs in hotspots of varying intensity along the sequence, and is enriched near genes. These and other studies of human biology and disease encoded within chromosome 1 are made possible with the highly accurate annotated sequence, as part of the completed set of chromosome sequences that comprise the reference human genome.",

author = "Gregory, {S. G.} and Barlow, {K. F.} and McLay, {K. E.} and R. Kaul and D. Swarbreck and A. Dunham and Scott, {C. E.} and Howe, {K. L.} and K. Woodfine and Spencer, {C. C.A.} and Jones, {M. C.} and C. Gillson and S. Searle and Y. Zhou and F. Kokocinski and L. McDonald and R. Evans and K. Phillips and A. Atkinson and R. Cooper and C. Jones and Hall, {R. E.} and Andrews, {T. D.} and C. Lloyd and R. Ainscough and Almeida, {J. P.} and Ambrose, {K. D.} and F. Anderson and Andrew, {R. W.} and Ashwell, {R. I.S.} and K. Aubin and Babbage, {A. K.} and Bagguley, {C. L.} and J. Bailey and H. Beasley and G. Bethel and Bird, {C. P.} and S. Bray-Allen and Brown, {J. Y.} and Brown, {A. J.} and D. Buckley and J. Burton and J. Bye and C. Carder and Chapman, {J. C.} and Clark, {S. Y.} and G. Clarke and C. Clee and V. Cobley and Collier, {R. E.} and N. Corby and Coville, {G. J.} and J. Davies and R. Deadman and M. Dunn and M. Earthrowl and Ellington, {A. G.} and H. Errington and A. Frankish and J. Frankland and L. French and P. Garner and J. Garnett and L. Gay and Ghori, {M. R.J.} and R. Gibson and Gilby, {L. M.} and W. Gillett and Glithero, {R. J.} and Grafham, {D. V.} and C. Griffiths and S. Griffiths-Jones and R. Grocock and S. Hammond and Harrison, {E. S.I.} and E. Hart and E. Haugen and Heath, {P. D.} and S. Holmes and K. Holt and Howden, {P. J.} and Hunt, {A. R.} and Hunt, {S. E.} and G. Hunter and J. Isherwood and R. James and C. Johnson and D. Johnson and A. Joy and M. Kay and Kershaw, {J. K.} and M. Kibukawa and Kimberley, {A. M.} and A. King and Knights, {A. J.} and H. Lad and G. Laird and S. Lawlor and Leongamornlert, {D. A.} and Lloyd, {D. M.} and J. Loveland and J. Lovell and Lush, {M. J.} and R. Lyne and S. Martin and M. Mashreghi-Mohammadi and L. Matthews and Matthews, {N. S.W.} and S. McLaren and S. Milne and S. Mistry and Moore, {M. J.F.} and T. Nickerson and O'Dell, {C. N.} and K. Oliver and A. Palmeiri and Palmer, {S. A.} and A. Parker and D. Patel and Pearce, {A. V.} and Peck, {A. I.} and S. Pelan and K. Phelps and Phillimore, {B. J.} and R. Plumb and J. Rajan and C. Raymond and G. Rouse and C. Saenphimmachak and Sehra, {H. K.} and E. Sheridan and R. Shownkeen and S. Sims and Skuce, {C. D.} and M. Smith and C. Steward and S. Subramanian and N. Sycamore and A. Tracey and A. Tromans and {Van Helmond}, Z. and M. Wall and Wallis, {J. M.} and S. White and Whitehead, {S. L.} and Wilkinson, {J. E.} and Willey, {D. L.} and H. Williams and L. Wilming and Wray, {P. W.} and Z. Wu and A. Coulson and M. Vaudin and Sulston, {J. E.} and R. Durbin and T. Hubbard and R. Wooster and I. Dunham and Carter, {N. P.} and G. McVean and Ross, {M. T.} and J. Harrow and Olson, {M. V.} and S. Beck and J. Rogers and Bentley, {D. R.}",

year = "2006",

month = may,

day = "18",

doi = "10.1038/nature04727",

language = "English",

volume = "441",

pages = "315--321",

journal = "Nature",

issn = "0028-0836",

publisher = "Nature Publishing Group",

number = "7091",

}

Gregory, SG, Barlow, KF, McLay, KE, Kaul, R, Swarbreck, D, Dunham, A, Scott, CE, Howe, KL, Woodfine, K, Spencer, CCA, Jones, MC, Gillson, C, Searle, S, Zhou, Y, Kokocinski, F, McDonald, L, Evans, R, Phillips, K, Atkinson, A, Cooper, R, Jones, C, Hall, RE, Andrews, TD, Lloyd, C, Ainscough, R, Almeida, JP, Ambrose, KD, Anderson, F, Andrew, RW, Ashwell, RIS, Aubin, K, Babbage, AK, Bagguley, CL, Bailey, J, Beasley, H, Bethel, G, Bird, CP, Bray-Allen, S, Brown, JY, Brown, AJ, Buckley, D, Burton, J, Bye, J, Carder, C, Chapman, JC, Clark, SY, Clarke, G, Clee, C, Cobley, V, Collier, RE, Corby, N, Coville, GJ, Davies, J, Deadman, R, Dunn, M, Earthrowl, M, Ellington, AG, Errington, H, Frankish, A, Frankland, J, French, L, Garner, P, Garnett, J, Gay, L, Ghori, MRJ, Gibson, R, Gilby, LM, Gillett, W, Glithero, RJ, Grafham, DV, Griffiths, C, Griffiths-Jones, S, Grocock, R, Hammond, S, Harrison, ESI, Hart, E, Haugen, E, Heath, PD, Holmes, S, Holt, K, Howden, PJ, Hunt, AR, Hunt, SE, Hunter, G, Isherwood, J, James, R, Johnson, C, Johnson, D, Joy, A, Kay, M, Kershaw, JK, Kibukawa, M, Kimberley, AM, King, A, Knights, AJ, Lad, H, Laird, G, Lawlor, S, Leongamornlert, DA, Lloyd, DM, Loveland, J, Lovell, J, Lush, MJ, Lyne, R, Martin, S, Mashreghi-Mohammadi, M, Matthews, L, Matthews, NSW, McLaren, S, Milne, S, Mistry, S, Moore, MJF, Nickerson, T, O'Dell, CN, Oliver, K, Palmeiri, A, Palmer, SA, Parker, A, Patel, D, Pearce, AV, Peck, AI, Pelan, S, Phelps, K, Phillimore, BJ, Plumb, R, Rajan, J, Raymond, C, Rouse, G, Saenphimmachak, C, Sehra, HK, Sheridan, E, Shownkeen, R, Sims, S, Skuce, CD, Smith, M, Steward, C, Subramanian, S, Sycamore, N, Tracey, A, Tromans, A, Van Helmond, Z, Wall, M, Wallis, JM, White, S, Whitehead, SL, Wilkinson, JE, Willey, DL, Williams, H, Wilming, L, Wray, PW, Wu, Z, Coulson, A, Vaudin, M, Sulston, JE, Durbin, R, Hubbard, T, Wooster, R, Dunham, I, Carter, NP, McVean, G, Ross, MT, Harrow, J, Olson, MV, Beck, S, Rogers, J & Bentley, DR 2006, 'The DNA sequence and biological annotation of human chromosome 1', Nature, vol. 441, no. 7091, pp. 315-321. https://doi.org/10.1038/nature04727

TY - JOUR

T1 - The DNA sequence and biological annotation of human chromosome 1

AU - Gregory, S. G.

AU - Barlow, K. F.

AU - McLay, K. E.

AU - Kaul, R.

AU - Swarbreck, D.

AU - Dunham, A.

AU - Scott, C. E.

AU - Howe, K. L.

AU - Woodfine, K.

AU - Spencer, C. C.A.

AU - Jones, M. C.

AU - Gillson, C.

AU - Searle, S.

AU - Zhou, Y.

AU - Kokocinski, F.

AU - McDonald, L.

AU - Evans, R.

AU - Phillips, K.

AU - Atkinson, A.

AU - Cooper, R.

AU - Jones, C.

AU - Hall, R. E.

AU - Andrews, T. D.

AU - Lloyd, C.

AU - Ainscough, R.

AU - Almeida, J. P.

AU - Ambrose, K. D.

AU - Anderson, F.

AU - Andrew, R. W.

AU - Ashwell, R. I.S.

AU - Aubin, K.

AU - Babbage, A. K.

AU - Bagguley, C. L.

AU - Bailey, J.

AU - Beasley, H.

AU - Bethel, G.

AU - Bird, C. P.

AU - Bray-Allen, S.

AU - Brown, J. Y.

AU - Brown, A. J.

AU - Buckley, D.

AU - Burton, J.

AU - Bye, J.

AU - Carder, C.

AU - Chapman, J. C.

AU - Clark, S. Y.

AU - Clarke, G.

AU - Clee, C.

AU - Cobley, V.

AU - Collier, R. E.

AU - Corby, N.

AU - Coville, G. J.

AU - Davies, J.

AU - Deadman, R.

AU - Dunn, M.

AU - Earthrowl, M.

AU - Ellington, A. G.

AU - Errington, H.

AU - Frankish, A.

AU - Frankland, J.

AU - French, L.

AU - Garner, P.

AU - Garnett, J.

AU - Gay, L.

AU - Ghori, M. R.J.

AU - Gibson, R.

AU - Gilby, L. M.

AU - Gillett, W.

AU - Glithero, R. J.

AU - Grafham, D. V.

AU - Griffiths, C.

AU - Griffiths-Jones, S.

AU - Grocock, R.

AU - Hammond, S.

AU - Harrison, E. S.I.

AU - Hart, E.

AU - Haugen, E.

AU - Heath, P. D.

AU - Holmes, S.

AU - Holt, K.

AU - Howden, P. J.

AU - Hunt, A. R.

AU - Hunt, S. E.

AU - Hunter, G.

AU - Isherwood, J.

AU - James, R.

AU - Johnson, C.

AU - Johnson, D.

AU - Joy, A.

AU - Kay, M.

AU - Kershaw, J. K.

AU - Kibukawa, M.

AU - Kimberley, A. M.

AU - King, A.

AU - Knights, A. J.

AU - Lad, H.

AU - Laird, G.

AU - Lawlor, S.

AU - Leongamornlert, D. A.

AU - Lloyd, D. M.

AU - Loveland, J.

AU - Lovell, J.

AU - Lush, M. J.

AU - Lyne, R.

AU - Martin, S.

AU - Mashreghi-Mohammadi, M.

AU - Matthews, L.

AU - Matthews, N. S.W.

AU - McLaren, S.

AU - Milne, S.

AU - Mistry, S.

AU - Moore, M. J.F.

AU - Nickerson, T.

AU - O'Dell, C. N.

AU - Oliver, K.

AU - Palmeiri, A.

AU - Palmer, S. A.

AU - Parker, A.

AU - Patel, D.

AU - Pearce, A. V.

AU - Peck, A. I.

AU - Pelan, S.

AU - Phelps, K.

AU - Phillimore, B. J.

AU - Plumb, R.

AU - Rajan, J.

AU - Raymond, C.

AU - Rouse, G.

AU - Saenphimmachak, C.

AU - Sehra, H. K.

AU - Sheridan, E.

AU - Shownkeen, R.

AU - Sims, S.

AU - Skuce, C. D.

AU - Smith, M.

AU - Steward, C.

AU - Subramanian, S.

AU - Sycamore, N.

AU - Tracey, A.

AU - Tromans, A.

AU - Van Helmond, Z.

AU - Wall, M.

AU - Wallis, J. M.

AU - White, S.

AU - Whitehead, S. L.

AU - Wilkinson, J. E.

AU - Willey, D. L.

AU - Williams, H.

AU - Wilming, L.

AU - Wray, P. W.

AU - Wu, Z.

AU - Coulson, A.

AU - Vaudin, M.

AU - Sulston, J. E.

AU - Durbin, R.

AU - Hubbard, T.

AU - Wooster, R.

AU - Dunham, I.

AU - Carter, N. P.

AU - McVean, G.

AU - Ross, M. T.

AU - Harrow, J.

AU - Olson, M. V.

AU - Beck, S.

AU - Rogers, J.

AU - Bentley, D. R.

PY - 2006/5/18

Y1 - 2006/5/18

N2 - The reference sequence for each human chromosome provides the framework for understanding genome function, variation and evolution. Here we report the finished sequence and biological annotation of human chromosome 1. Chromosome 1 is gene-dense, with 3,141 genes and 991 pseudogenes, and many coding sequences overlap. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. Fine-scale recombination occurs in hotspots of varying intensity along the sequence, and is enriched near genes. These and other studies of human biology and disease encoded within chromosome 1 are made possible with the highly accurate annotated sequence, as part of the completed set of chromosome sequences that comprise the reference human genome.

AB - The reference sequence for each human chromosome provides the framework for understanding genome function, variation and evolution. Here we report the finished sequence and biological annotation of human chromosome 1. Chromosome 1 is gene-dense, with 3,141 genes and 991 pseudogenes, and many coding sequences overlap. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. Fine-scale recombination occurs in hotspots of varying intensity along the sequence, and is enriched near genes. These and other studies of human biology and disease encoded within chromosome 1 are made possible with the highly accurate annotated sequence, as part of the completed set of chromosome sequences that comprise the reference human genome.

UR - http://www.scopus.com/inward/record.url?scp=33745008608&partnerID=8YFLogxK

U2 - 10.1038/nature04727

DO - 10.1038/nature04727

M3 - Article

SN - 0028-0836

VL - 441

SP - 315

EP - 321

JO - Nature

JF - Nature

IS - 7091

ER -

The DNA sequence and biological annotation of human chromosome 1

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