DNA sequence and analysis of human chromosome 9.

SJ Humphray; K Oliver; AR Hunt; RW Plumb; JE Loveland; KL Howe; TD Andrews; S Searle; SE Hunt; CE Scott; MC Jones; R Ainscough; JP Almeida; KD Ambrose; RIS Ashwell; AK Babbage; S Babbage; CL Bagguley; J Bailey; R Banerjee; DJ Barker; KF Barlow; K Bates; H Beasley; O Beasley; CP Bird; S Bray-Allen; AJ Brown; JY Brown; D Burford; W Burrill; J Burton; C Carder; NP Carter; JC Chapman; Y Chen; G Clarke; SY Clark; CM Clee; S Clegg; RE Collier; N Corby; M Crosier; AT Cummings; J Davies; P Dhami; M Dunn; I Dutta; LW Dyer; Vikki Rand; I Dunham

doi:10.1038/nature02465

DNA sequence and analysis of human chromosome 9.

SJ Humphray, K Oliver, AR Hunt, RW Plumb, JE Loveland, KL Howe, TD Andrews, S Searle, SE Hunt, CE Scott, MC Jones, R Ainscough, JP Almeida, KD Ambrose, RIS Ashwell, AK Babbage, S Babbage, CL Bagguley, J Bailey, R BanerjeeDJ Barker, KF Barlow, K Bates, H Beasley, O Beasley, CP Bird, S Bray-Allen, AJ Brown, JY Brown, D Burford, W Burrill, J Burton, C Carder, NP Carter, JC Chapman, Y Chen, G Clarke, SY Clark, CM Clee, S Clegg, RE Collier, N Corby, M Crosier, AT Cummings, J Davies, P Dhami, M Dunn, I Dutta, LW Dyer, Vikki Rand, 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)	269-374
Number of pages	6
Journal	Nature
Volume	429
DOIs	https://doi.org/10.1038/nature02465
Publication status	Published - 27 May 2004

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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., ... Dunham, I. (2004). DNA sequence and analysis of human chromosome 9. Nature, 429, 269-374. https://doi.org/10.1038/nature02465

@article{04666aa1611244e390e0d8ec728d5c52,

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 = "SJ Humphray and K Oliver and AR Hunt and RW Plumb and JE Loveland and KL Howe and TD Andrews and S Searle and SE Hunt and CE Scott and MC Jones and R Ainscough and JP Almeida and KD Ambrose and RIS Ashwell and AK Babbage and S Babbage and CL Bagguley and J Bailey and R Banerjee and DJ Barker and KF Barlow and K Bates and H Beasley and O Beasley and CP Bird and S Bray-Allen and AJ Brown and JY Brown and D Burford and W Burrill and J Burton and C Carder and NP Carter and JC Chapman and Y Chen and G Clarke and SY Clark and CM Clee and S Clegg and RE Collier and N Corby and M Crosier and AT Cummings and J Davies and P Dhami and M Dunn and I Dutta and LW Dyer and Vikki Rand and I Dunham",

year = "2004",

month = may,

day = "27",

doi = "10.1038/nature02465",

language = "English",

volume = "429",

pages = "269--374",

journal = "Nature",

issn = "0028-0836",

publisher = "Nature Research",

}

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, Rand, V & Dunham, I 2004, 'DNA sequence and analysis of human chromosome 9.', Nature, vol. 429, pp. 269-374. https://doi.org/10.1038/nature02465

TY - JOUR

T1 - DNA sequence and analysis of human chromosome 9.

AU - Humphray, SJ

AU - Oliver, K

AU - Hunt, AR

AU - Plumb, RW

AU - Loveland, JE

AU - Howe, KL

AU - Andrews, TD

AU - Searle, S

AU - Hunt, SE

AU - Scott, CE

AU - Jones, MC

AU - Ainscough, R

AU - Almeida, JP

AU - Ambrose, KD

AU - Ashwell, RIS

AU - Babbage, AK

AU - Babbage, S

AU - Bagguley, CL

AU - Bailey, J

AU - Banerjee, R

AU - Barker, DJ

AU - Barlow, KF

AU - Bates, K

AU - Beasley, H

AU - Beasley, O

AU - Bird, CP

AU - Bray-Allen, S

AU - Brown, AJ

AU - Brown, JY

AU - Burford, D

AU - Burrill, W

AU - Burton, J

AU - Carder, C

AU - Carter, NP

AU - Chapman, JC

AU - Chen, Y

AU - Clarke, G

AU - Clark, SY

AU - Clee, CM

AU - Clegg, S

AU - Collier, RE

AU - Corby, N

AU - Crosier, M

AU - Cummings, AT

AU - Davies, J

AU - Dhami, P

AU - Dunn, M

AU - Dutta, I

AU - Dyer, LW

AU - Rand, Vikki

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.

UR - http://europepmc.org/abstract/med/15164053

U2 - 10.1038/nature02465

DO - 10.1038/nature02465

M3 - Article

C2 - 15164053

SN - 0028-0836

VL - 429

SP - 269

EP - 374

JO - Nature

JF - Nature

ER -

DNA sequence and analysis of human chromosome 9.

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