DNA sequence and analysis of human chromosome 9

S. J. Humphray; K. Oliver; A. R. Hunt; R. W. Plumb; J. E. Loveland; K. L. Howe; T. D. Andrews; S. Searle; S. E. Hunt; C. E. Scott; M. C. Jones; R. Ainscough; J. P. Almeida; K. D. Ambrose; R. I S Ashwell; A. K. Babbage; S. Babbage; C. L. Bagguley; J. Bailey; R. Banerjee; D. J. Barker; K. F. Barlow; K. Bates; H. Beasley; O. Beasley; C. P. Bird; S. Bray-Allen; A. J. Brown; J. Y. Brown; D. Burford; W. Burrill; J. Burton; C. Carder; N. P. Carter; J. C. Chapman; Y. Chen; G. Clarke; S. Y. Clark; C. M. Clee; S. Clegg; R. E. Collier; N. Corby; M. Crosier; A. T. Cummings; J. Davies; P. Dhami; M. Dunn; I. Dutta; L. W. Dyer; M. E. Earthrowl; L. Faulkner; C. J. Fleming; A. Frankish; J. A. Frankland; L. French; D. G. Fricker; P. Garner; J. Garnett; J. Ghori; J. G R Gilbert; C. Glison; D. V. Grafham; S. Gribble; C. Griffiths; S. Griffiths-Jones; R. Grocock; J. Guy; R. E. Hall; S. Hammond; J. L. Harley; E. S I Harrison; E. A. Hart; P. D. Heath; C. D. Henderson; B. L. Hopkins; P. J. Howard; P. J. Howden; E. Huckle; C. Johnson; D. Johnson; A. A. Joy; M. Kay; S. Keenan; J. K. Kershaw; A. M. Kimberley; A. King; A. Knights; G. K. Laird; C. Langford; S. Lawlor; D. A. Leongamornlert; M. Leversha; C. Lloyd; D. M. Lloyd; J. Lovell; S. Martin; M. Mashreghi-Mohammadi; L. Matthews; S. McLaren; K. E. McLay; A. McMurray; S. Milne; T. Nickerson; J. Nisbett; G. Nordsiek; A. V. Pearce; A. I. Peck; K. M. Porter; R. Pandian; S. Pelan; B. Phillimore; S. Povey; Y. Ramsey; V. Rand; M. Scharfe; H. K. Sehra; R. Shownkeen; S. K. Sims; C. D. Skuce; M. Smith; C. A. Steward; D. Swarbreck; N. Sycamore; J. Tester; A. Thorpe; A. Tracey; A. Tromans; D. W. Thomas; M. Wall; J. M. Wallis; A. P. West; S. L. Whitehead; D. L. Willey; S. A. Williams; L. Wilming; P. W. Wray; L. Young; J. L. Ashurst; A. Coulson; H. Blöcker; R. Durbin; J. E. Sulston; T. Hubbard; M. J. Jackson; D. R. Bentley; S. Beck; J. Rogers; I. Dunham

doi:10.1038/nature02465

DNA sequence and analysis of human chromosome 9

S. J. Humphray, K. Oliver, A. R. Hunt, R. W. Plumb, J. E. Loveland, K. L. Howe, T. D. Andrews, S. Searle, S. E. Hunt, C. E. Scott, M. C. Jones, R. Ainscough, J. P. Almeida, K. D. Ambrose, R. I S Ashwell, A. K. Babbage, S. Babbage, C. L. Bagguley, J. Bailey, R. BanerjeeD. J. Barker, K. F. Barlow, K. Bates, H. Beasley, O. Beasley, C. P. Bird, S. Bray-Allen, A. J. Brown, J. Y. Brown, D. Burford, W. Burrill, J. Burton, C. Carder, N. P. Carter, J. C. Chapman, Y. Chen, G. Clarke, S. Y. Clark, C. M. Clee, S. Clegg, R. E. Collier, N. Corby, M. Crosier, A. T. Cummings, J. Davies, P. Dhami, M. Dunn, I. Dutta, L. W. Dyer, M. E. Earthrowl, L. Faulkner, C. J. Fleming, A. Frankish, J. A. Frankland, L. French, D. G. Fricker, P. Garner, J. Garnett, J. Ghori, J. G R Gilbert, C. Glison, D. V. Grafham, S. Gribble, C. Griffiths, S. Griffiths-Jones, R. Grocock, J. Guy, R. E. Hall, S. Hammond, J. L. Harley, E. S I Harrison, E. A. Hart, P. D. Heath, C. D. Henderson, B. L. Hopkins, P. J. Howard, P. J. Howden, E. Huckle, C. Johnson, D. Johnson, A. A. Joy, M. Kay, S. Keenan, J. K. Kershaw, A. M. Kimberley, A. King, A. Knights, G. K. Laird, C. Langford, S. Lawlor, D. A. Leongamornlert, M. Leversha, C. Lloyd, D. M. Lloyd, J. Lovell, S. Martin, M. Mashreghi-Mohammadi, L. Matthews, S. McLaren, K. E. McLay, A. McMurray, S. Milne, T. Nickerson, J. Nisbett, G. Nordsiek, A. V. Pearce, A. I. Peck, K. M. Porter, R. Pandian, S. Pelan, B. Phillimore, S. Povey, Y. Ramsey, V. Rand, M. Scharfe, H. K. Sehra, R. Shownkeen, S. K. Sims, C. D. Skuce, M. Smith, C. A. Steward, D. Swarbreck, N. Sycamore, J. Tester, A. Thorpe, A. Tracey, A. Tromans, D. W. Thomas, M. Wall, J. M. Wallis, A. P. West, S. L. Whitehead, D. L. Willey, S. A. Williams, L. Wilming, P. W. Wray, L. Young, J. L. Ashurst, A. Coulson, H. Blöcker, R. Durbin, J. E. Sulston, T. Hubbard, M. J. Jackson, D. R. Bentley, S. Beck, J. Rogers, I. Dunham

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

Abstract

Chromosome 9 is highly structurally polymorphic. It contains the largest autosomal block of heterochromatin, which is heteromorphic in 6-8% of humans, whereas pericentric inversions occur in more than 1% of the population. The finished euchromatic sequence of chromosome 9 comprises 109,044,351 base pairs and represents >99.6% of the region. Analysis of the sequence reveals many intra- and interchromosomal duplications, including segmental duplications adjacent to both the centromere and the large heterochromatic block. We have annotated 1,149 genes, including genes implicated in male-to-female sex reversal, cancer and neurodegenerative disease, and 426 pseudogenes. The chromosome contains the largest interferon gene cluster in the human genome. There is also a region of exceptionally high gene and G + C content including genes paralogous to those in the major histocompatibility complex. We have also detected recently duplicated genes that exhibit different rates of sequence divergence, presumably reflecting natural selection.

Original language	English
Pages (from-to)	369-374
Number of pages	5
Journal	Nature
Volume	429
Issue number	6990
DOIs	https://doi.org/10.1038/nature02465
Publication status	Published - 27 May 2004

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1038/nature02465

Cite this

Humphray, S. J., Oliver, K., Hunt, A. R., Plumb, R. W., Loveland, J. E., Howe, K. L., Andrews, T. D., Searle, S., Hunt, S. E., Scott, C. E., Jones, M. C., Ainscough, R., Almeida, J. P., Ambrose, K. D., Ashwell, R. I. S., Babbage, A. K., Babbage, S., Bagguley, C. L., Bailey, J., ... Dunham, I. (2004). DNA sequence and analysis of human chromosome 9. Nature, 429(6990), 369-374. https://doi.org/10.1038/nature02465

@article{1fbe6c596465438b8adb0c93e6000f85,

title = "DNA sequence and analysis of human chromosome 9",

abstract = "Chromosome 9 is highly structurally polymorphic. It contains the largest autosomal block of heterochromatin, which is heteromorphic in 6-8% of humans, whereas pericentric inversions occur in more than 1% of the population. The finished euchromatic sequence of chromosome 9 comprises 109,044,351 base pairs and represents >99.6% of the region. Analysis of the sequence reveals many intra- and interchromosomal duplications, including segmental duplications adjacent to both the centromere and the large heterochromatic block. We have annotated 1,149 genes, including genes implicated in male-to-female sex reversal, cancer and neurodegenerative disease, and 426 pseudogenes. The chromosome contains the largest interferon gene cluster in the human genome. There is also a region of exceptionally high gene and G + C content including genes paralogous to those in the major histocompatibility complex. We have also detected recently duplicated genes that exhibit different rates of sequence divergence, presumably reflecting natural selection.",

author = "Humphray, {S. J.} and K. Oliver and Hunt, {A. R.} and Plumb, {R. W.} and Loveland, {J. E.} and Howe, {K. L.} and Andrews, {T. D.} and S. Searle and Hunt, {S. E.} and Scott, {C. E.} and Jones, {M. C.} and R. Ainscough and Almeida, {J. P.} and Ambrose, {K. D.} and Ashwell, {R. I S} and Babbage, {A. K.} and S. Babbage and Bagguley, {C. L.} and J. Bailey and R. Banerjee and Barker, {D. J.} and Barlow, {K. F.} and K. Bates and H. Beasley and O. Beasley and Bird, {C. P.} and S. Bray-Allen and Brown, {A. J.} and Brown, {J. Y.} and D. Burford and W. Burrill and J. Burton and C. Carder and Carter, {N. P.} and Chapman, {J. C.} and Y. Chen and G. Clarke and Clark, {S. Y.} and Clee, {C. M.} and S. Clegg and Collier, {R. E.} and N. Corby and M. Crosier and Cummings, {A. T.} and J. Davies and P. Dhami and M. Dunn and I. Dutta and Dyer, {L. W.} and Earthrowl, {M. E.} and L. Faulkner and Fleming, {C. J.} and A. Frankish and Frankland, {J. A.} and L. French and Fricker, {D. G.} and P. Garner and J. Garnett and J. Ghori and Gilbert, {J. G R} and C. Glison and Grafham, {D. V.} and S. Gribble and C. Griffiths and S. Griffiths-Jones and R. Grocock and J. Guy and Hall, {R. E.} and S. Hammond and Harley, {J. L.} and Harrison, {E. S I} and Hart, {E. A.} and Heath, {P. D.} and Henderson, {C. D.} and Hopkins, {B. L.} and Howard, {P. J.} and Howden, {P. J.} and E. Huckle and C. Johnson and D. Johnson and Joy, {A. A.} and M. Kay and S. Keenan and Kershaw, {J. K.} and Kimberley, {A. M.} and A. King and A. Knights and Laird, {G. K.} and C. Langford and S. Lawlor and Leongamornlert, {D. A.} and M. Leversha and C. Lloyd and Lloyd, {D. M.} and J. Lovell and S. Martin and M. Mashreghi-Mohammadi and L. Matthews and S. McLaren and McLay, {K. E.} and A. McMurray and S. Milne and T. Nickerson and J. Nisbett and G. Nordsiek and Pearce, {A. V.} and Peck, {A. I.} and Porter, {K. M.} and R. Pandian and S. Pelan and B. Phillimore and S. Povey and Y. Ramsey and V. Rand and M. Scharfe and Sehra, {H. K.} and R. Shownkeen and Sims, {S. K.} and Skuce, {C. D.} and M. Smith and Steward, {C. A.} and D. Swarbreck and N. Sycamore and J. Tester and A. Thorpe and A. Tracey and A. Tromans and Thomas, {D. W.} and M. Wall and Wallis, {J. M.} and West, {A. P.} and Whitehead, {S. L.} and Willey, {D. L.} and Williams, {S. A.} and L. Wilming and Wray, {P. W.} and L. Young and Ashurst, {J. L.} and A. Coulson and H. Bl{\"o}cker and R. Durbin and Sulston, {J. E.} and T. Hubbard and Jackson, {M. J.} and Bentley, {D. R.} and S. Beck and J. Rogers and I. Dunham",

year = "2004",

month = may,

day = "27",

doi = "10.1038/nature02465",

language = "English",

volume = "429",

pages = "369--374",

journal = "Nature",

issn = "0028-0836",

publisher = "Springer Nature",

number = "6990",

}

Humphray, SJ, Oliver, K, Hunt, AR, Plumb, RW, Loveland, JE, Howe, KL, Andrews, TD, Searle, S, Hunt, SE, Scott, CE, Jones, MC, Ainscough, R, Almeida, JP, Ambrose, KD, Ashwell, RIS, Babbage, AK, Babbage, S, Bagguley, CL, Bailey, J, Banerjee, R, Barker, DJ, Barlow, KF, Bates, K, Beasley, H, Beasley, O, Bird, CP, Bray-Allen, S, Brown, AJ, Brown, JY, Burford, D, Burrill, W, Burton, J, Carder, C, Carter, NP, Chapman, JC, Chen, Y, Clarke, G, Clark, SY, Clee, CM, Clegg, S, Collier, RE, Corby, N, Crosier, M, Cummings, AT, Davies, J, Dhami, P, Dunn, M, Dutta, I, Dyer, LW, Earthrowl, ME, Faulkner, L, Fleming, CJ, Frankish, A, Frankland, JA, French, L, Fricker, DG, Garner, P, Garnett, J, Ghori, J, Gilbert, JGR, Glison, C, Grafham, DV, Gribble, S, Griffiths, C, Griffiths-Jones, S, Grocock, R, Guy, J, Hall, RE, Hammond, S, Harley, JL, Harrison, ESI, Hart, EA, Heath, PD, Henderson, CD, Hopkins, BL, Howard, PJ, Howden, PJ, Huckle, E, Johnson, C, Johnson, D, Joy, AA, Kay, M, Keenan, S, Kershaw, JK, Kimberley, AM, King, A, Knights, A, Laird, GK, Langford, C, Lawlor, S, Leongamornlert, DA, Leversha, M, Lloyd, C, Lloyd, DM, Lovell, J, Martin, S, Mashreghi-Mohammadi, M, Matthews, L, McLaren, S, McLay, KE, McMurray, A, Milne, S, Nickerson, T, Nisbett, J, Nordsiek, G, Pearce, AV, Peck, AI, Porter, KM, Pandian, R, Pelan, S, Phillimore, B, Povey, S, Ramsey, Y, Rand, V, Scharfe, M, Sehra, HK, Shownkeen, R, Sims, SK, Skuce, CD, Smith, M, Steward, CA, Swarbreck, D, Sycamore, N, Tester, J, Thorpe, A, Tracey, A, Tromans, A, Thomas, DW, Wall, M, Wallis, JM, West, AP, Whitehead, SL, Willey, DL, Williams, SA, Wilming, L, Wray, PW, Young, L, Ashurst, JL, Coulson, A, Blöcker, H, Durbin, R, Sulston, JE, Hubbard, T, Jackson, MJ, Bentley, DR, Beck, S, Rogers, J & Dunham, I 2004, 'DNA sequence and analysis of human chromosome 9', Nature, vol. 429, no. 6990, pp. 369-374. https://doi.org/10.1038/nature02465

TY - JOUR

T1 - DNA sequence and analysis of human chromosome 9

AU - Humphray, S. J.

AU - Oliver, K.

AU - Hunt, A. R.

AU - Plumb, R. W.

AU - Loveland, J. E.

AU - Howe, K. L.

AU - Andrews, T. D.

AU - Searle, S.

AU - Hunt, S. E.

AU - Scott, C. E.

AU - Jones, M. C.

AU - Ainscough, R.

AU - Almeida, J. P.

AU - Ambrose, K. D.

AU - Ashwell, R. I S

AU - Babbage, A. K.

AU - Babbage, S.

AU - Bagguley, C. L.

AU - Bailey, J.

AU - Banerjee, R.

AU - Barker, D. J.

AU - Barlow, K. F.

AU - Bates, K.

AU - Beasley, H.

AU - Beasley, O.

AU - Bird, C. P.

AU - Bray-Allen, S.

AU - Brown, A. J.

AU - Brown, J. Y.

AU - Burford, D.

AU - Burrill, W.

AU - Burton, J.

AU - Carder, C.

AU - Carter, N. P.

AU - Chapman, J. C.

AU - Chen, Y.

AU - Clarke, G.

AU - Clark, S. Y.

AU - Clee, C. M.

AU - Clegg, S.

AU - Collier, R. E.

AU - Corby, N.

AU - Crosier, M.

AU - Cummings, A. T.

AU - Davies, J.

AU - Dhami, P.

AU - Dunn, M.

AU - Dutta, I.

AU - Dyer, L. W.

AU - Earthrowl, M. E.

AU - Faulkner, L.

AU - Fleming, C. J.

AU - Frankish, A.

AU - Frankland, J. A.

AU - French, L.

AU - Fricker, D. G.

AU - Garner, P.

AU - Garnett, J.

AU - Ghori, J.

AU - Gilbert, J. G R

AU - Glison, C.

AU - Grafham, D. V.

AU - Gribble, S.

AU - Griffiths, C.

AU - Griffiths-Jones, S.

AU - Grocock, R.

AU - Guy, J.

AU - Hall, R. E.

AU - Hammond, S.

AU - Harley, J. L.

AU - Harrison, E. S I

AU - Hart, E. A.

AU - Heath, P. D.

AU - Henderson, C. D.

AU - Hopkins, B. L.

AU - Howard, P. J.

AU - Howden, P. J.

AU - Huckle, E.

AU - Johnson, C.

AU - Johnson, D.

AU - Joy, A. A.

AU - Kay, M.

AU - Keenan, S.

AU - Kershaw, J. K.

AU - Kimberley, A. M.

AU - King, A.

AU - Knights, A.

AU - Laird, G. K.

AU - Langford, C.

AU - Lawlor, S.

AU - Leongamornlert, D. A.

AU - Leversha, M.

AU - Lloyd, C.

AU - Lloyd, D. M.

AU - Lovell, J.

AU - Martin, S.

AU - Mashreghi-Mohammadi, M.

AU - Matthews, L.

AU - McLaren, S.

AU - McLay, K. E.

AU - McMurray, A.

AU - Milne, S.

AU - Nickerson, T.

AU - Nisbett, J.

AU - Nordsiek, G.

AU - Pearce, A. V.

AU - Peck, A. I.

AU - Porter, K. M.

AU - Pandian, R.

AU - Pelan, S.

AU - Phillimore, B.

AU - Povey, S.

AU - Ramsey, Y.

AU - Rand, V.

AU - Scharfe, M.

AU - Sehra, H. K.

AU - Shownkeen, R.

AU - Sims, S. K.

AU - Skuce, C. D.

AU - Smith, M.

AU - Steward, C. A.

AU - Swarbreck, D.

AU - Sycamore, N.

AU - Tester, J.

AU - Thorpe, A.

AU - Tracey, A.

AU - Tromans, A.

AU - Thomas, D. W.

AU - Wall, M.

AU - Wallis, J. M.

AU - West, A. P.

AU - Whitehead, S. L.

AU - Willey, D. L.

AU - Williams, S. A.

AU - Wilming, L.

AU - Wray, P. W.

AU - Young, L.

AU - Ashurst, J. L.

AU - Coulson, A.

AU - Blöcker, H.

AU - Durbin, R.

AU - Sulston, J. E.

AU - Hubbard, T.

AU - Jackson, M. J.

AU - Bentley, D. R.

AU - Beck, S.

AU - Rogers, J.

AU - Dunham, I.

PY - 2004/5/27

Y1 - 2004/5/27

N2 - Chromosome 9 is highly structurally polymorphic. It contains the largest autosomal block of heterochromatin, which is heteromorphic in 6-8% of humans, whereas pericentric inversions occur in more than 1% of the population. The finished euchromatic sequence of chromosome 9 comprises 109,044,351 base pairs and represents >99.6% of the region. Analysis of the sequence reveals many intra- and interchromosomal duplications, including segmental duplications adjacent to both the centromere and the large heterochromatic block. We have annotated 1,149 genes, including genes implicated in male-to-female sex reversal, cancer and neurodegenerative disease, and 426 pseudogenes. The chromosome contains the largest interferon gene cluster in the human genome. There is also a region of exceptionally high gene and G + C content including genes paralogous to those in the major histocompatibility complex. We have also detected recently duplicated genes that exhibit different rates of sequence divergence, presumably reflecting natural selection.

AB - Chromosome 9 is highly structurally polymorphic. It contains the largest autosomal block of heterochromatin, which is heteromorphic in 6-8% of humans, whereas pericentric inversions occur in more than 1% of the population. The finished euchromatic sequence of chromosome 9 comprises 109,044,351 base pairs and represents >99.6% of the region. Analysis of the sequence reveals many intra- and interchromosomal duplications, including segmental duplications adjacent to both the centromere and the large heterochromatic block. We have annotated 1,149 genes, including genes implicated in male-to-female sex reversal, cancer and neurodegenerative disease, and 426 pseudogenes. The chromosome contains the largest interferon gene cluster in the human genome. There is also a region of exceptionally high gene and G + C content including genes paralogous to those in the major histocompatibility complex. We have also detected recently duplicated genes that exhibit different rates of sequence divergence, presumably reflecting natural selection.

U2 - 10.1038/nature02465

DO - 10.1038/nature02465

M3 - Article

C2 - 15164053

SN - 0028-0836

VL - 429

SP - 369

EP - 374

JO - Nature

JF - Nature

IS - 6990

ER -

DNA sequence and analysis of human chromosome 9

Abstract

UN SDGs

Access to Document

Fingerprint

Cite this