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1. The DNA sequence of the human X chromosome

Author

ROSS MT, GRAFHAM DV, COFFEY AJ, SCHERER S, MCLAY K, MUZNY D, PLATZER M, HOWELL GR, BURROWS C, BIRD CP, FRANKISH A, LOVELL FL, HOWE KL, ASHURST JL, FULTON RS, SUDBRAK R, WEN G, JONES MC, HURLES ME, ANDREWS TD, SCOTT CE, SEARLE S, RAMSER J, WHITTAKER A, DEADMAN R, CARTER NP, HUNT SE, CHEN R, CREE A, GUNARATNE P, HAVLAK P, HODGSON A, METZKER ML, RICHARDS S, SCOTT G, STEFFEN D, SODERGREN E, WHEELER DA, WORLEY KC, AINSCOUGH R, AMBROSE KD, ANSARI LARI MA, ARADHYA S, ASHWELL RI, BABBAGE AK, BAGGULEY CL, BANERJEE R, BARKER GE, BARLOW KF, BARRETT IP, BATES KN, BEARE DM, BEASLEY H, BEASLEY O, BECK A, BETHEL G, BLECHSCHMIDT K, BRADY N, BRAY ALLEN S, BRIDGEMAN AM, BROWN AJ, BROWN MJ, BONNIN D, BRUFORD EA, BUHAY C, BURCH P, BURFORD D, BURGESS J, BURRILL W, BURTON J, BYE JM, CARDER C, CARREL L, CHAKO J, CHAPMAN JC, CHAVEZ D, CHEN E, CH EN G, CHEN Y, CHEN Z, CHINAULT C, CICCODICOLA A, CLARK SY, CLARKE G, CLEE CM, CLEGG S, CLERC BLANKENBURG K, CLIFFORD K, COBLEY V, COLE CG, CONQUER JS, CORBY N, CONNOR RE, DAVID R, DAVIES J, DAVIS C, DAVIS J, DELGADO O, DESHAZO D, DHAMI P, DING Y, DINH H, DODSWORTH S, DRAPER H, DUGAN ROCHA S, DUNHAM A, DUNN M, DURBIN KJ, DUTTA I, EADES T, ELLWOOD M, EMERY COHEN A, ERRINGTON H, EVANS KL, FAULKNER L, FRANCIS F, FRANKLAND J, FRASER AE, GALGOCZY P, GILBERT J, GILL R, GLOCKNER G, GREGORY SG, GRIBBLE S, GRIFFITHS C, GROCOCK R, GU Y, GWILLIAM R, HAMILTON C, HART EA, HAWES A, HEATH PD, HEITMANN K, HENNIG S, HERNANDEZ J, HINZMANN B, HO S, HOFFS M, HOWDEN PJ, HUCKLE EJ, HUME J, HUNT PJ, HUNT AR, ISHERWOOD J, JACOB L, JOHNSON D, JONES S, DE JONG PJ, JOSEPH SS, KEENAN S, KELLY S, KERSHAW JK, KHAN Z, KIOSCHIS P, KLAGES S, KNIGHTS AJ, KOSIURA A, KOVAR SMITH C, LAIRD GK, LANGFORD C, LAWLOR S, LEVERSHA M, LEWIS L, LIU W, LLOYD C, LLOYD DM, LOULSEGED H, LOVELAND JE, LOVELL JD, LOZADO R, LU J, LYNE R, MA J, MAHESHWARI M, MATTHEWS LH, MCDOWALL J, MCLAREN S, MCMURRAY A, MEIDL P, MEITINGER T, MILNE S, MINER G, MISTRY SL, MORGAN M, MORRIS S, MULLER I, M.U.L.L.I.K.I.N. . ., BALLABIO, ANDREA, Ross, Mt, Grafham, Dv, Coffey, Aj, Scherer, S, Mclay, K, Muzny, D, Platzer, M, Howell, Gr, Burrows, C, Bird, Cp, Frankish, A, Lovell, Fl, Howe, Kl, Ashurst, Jl, Fulton, R, Sudbrak, R, Wen, G, Jones, Mc, Hurles, Me, Andrews, Td, Scott, Ce, Searle, S, Ramser, J, Whittaker, A, Deadman, R, Carter, Np, Hunt, Se, Chen, R, Cree, A, Gunaratne, P, Havlak, P, Hodgson, A, Metzker, Ml, Richards, S, Scott, G, Steffen, D, Sodergren, E, Wheeler, Da, Worley, Kc, Ainscough, R, Ambrose, Kd, ANSARI LARI, Ma, Aradhya, S, Ashwell, Ri, Babbage, Ak, Bagguley, Cl, Ballabio, Andrea, Banerjee, R, Barker, Ge, Barlow, Kf, Barrett, Ip, Bates, Kn, Beare, Dm, Beasley, H, Beasley, O, Beck, A, Bethel, G, Blechschmidt, K, Brady, N, BRAY ALLEN, S, Bridgeman, Am, Brown, Aj, Brown, Mj, Bonnin, D, Bruford, Ea, Buhay, C, Burch, P, Burford, D, Burgess, J, Burrill, W, Burton, J, Bye, Jm, Carder, C, Carrel, L, Chako, J, Chapman, Jc, Chavez, D, Chen, E, CH EN, G, Chen, Y, Chen, Z, Chinault, C, Ciccodicola, A, Clark, Sy, Clarke, G, Clee, Cm, Clegg, S, CLERC BLANKENBURG, K, Clifford, K, Cobley, V, Cole, Cg, Conquer, J, Corby, N, Connor, Re, David, R, Davies, J, Davis, C, Davis, J, Delgado, O, Deshazo, D, Dhami, P, Ding, Y, Dinh, H, Dodsworth, S, Draper, H, DUGAN ROCHA, S, Dunham, A, Dunn, M, Durbin, Kj, Dutta, I, Eades, T, Ellwood, M, EMERY COHEN, A, Errington, H, Evans, Kl, Faulkner, L, Francis, F, Frankland, J, Fraser, Ae, Galgoczy, P, Gilbert, J, Gill, R, Glockner, G, Gregory, Sg, Gribble, S, Griffiths, C, Grocock, R, Gu, Y, Gwilliam, R, Hamilton, C, Hart, Ea, Hawes, A, Heath, Pd, Heitmann, K, Hennig, S, Hernandez, J, Hinzmann, B, Ho, S, Hoffs, M, Howden, Pj, Huckle, Ej, Hume, J, Hunt, Pj, Hunt, Ar, Isherwood, J, Jacob, L, Johnson, D, Jones, S, DE JONG, Pj, Joseph, S, Keenan, S, Kelly, S, Kershaw, Jk, Khan, Z, Kioschis, P, Klages, S, Knights, Aj, Kosiura, A, KOVAR SMITH, C, Laird, Gk, Langford, C, Lawlor, S, Leversha, M, Lewis, L, Liu, W, Lloyd, C, Lloyd, Dm, Loulseged, H, Loveland, Je, Lovell, Jd, Lozado, R, Lu, J, Lyne, R, Ma, J, Maheshwari, M, Matthews, Lh, Mcdowall, J, Mclaren, S, Mcmurray, A, Meidl, P, Meitinger, T, Milne, S, Miner, G, Mistry, Sl, Morgan, M, Morris, S, Muller, I, and M. U. L. L. I. K. I. N. ., .

Published
2005

2. The DNA sequence and biological annotation of human chromosome 1.

Author

Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, 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 RI, 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 MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, 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 NS, McLaren S, Milne S, Mistry S, Moore MJ, 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, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, and Prigmore E

Subjects
Base Sequence, DNA Replication Timing, Disease, Gene Duplication, Genes genetics, Genetic Variation genetics, Genomics, Humans, Molecular Sequence Data, Open Reading Frames genetics, Pseudogenes genetics, Recombination, Genetic genetics, Selection, Genetic, Sequence Analysis, DNA, Chromosomes, Human, Pair 1 genetics
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.

Published
2006
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3. DNA sequence and analysis of human chromosome 9.

Author

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 RI, 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 JG, Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, 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, and Dunham I

Subjects
Base Composition, Euchromatin genetics, Evolution, Molecular, Female, Gene Duplication, Genes, Duplicate genetics, Genetic Variation genetics, Genetics, Medical, Genomics, Heterochromatin genetics, Humans, Male, Neoplasms genetics, Neurodegenerative Diseases genetics, Pseudogenes genetics, Sequence Analysis, DNA, Sex Determination Processes, Chromosomes, Human, Pair 9 genetics, Genes, Physical Chromosome Mapping
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.

Published
2004
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4. The DNA sequence and comparative analysis of human chromosome 10.

Author

Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L, Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE, Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H, Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S, Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E, Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C, Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK, Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird G, Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE, McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson T, Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou T, Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore N, Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J, Wall M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead SL, Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK, Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T, Doucette-Stamm L, Beck S, Smith DR, and Rogers J

Subjects
Animals, Base Composition, Contig Mapping, CpG Islands genetics, Evolution, Molecular, Exons genetics, Gene Duplication, Genetic Variation genetics, Genetics, Medical, Genomics, Humans, Pan troglodytes genetics, Proteins genetics, Pseudogenes genetics, Sequence Analysis, DNA, Chromosomes, Human, Pair 10 genetics, Genes, Physical Chromosome Mapping
Abstract

The finished sequence of human chromosome 10 comprises a total of 131,666,441 base pairs. It represents 99.4% of the euchromatic DNA and includes one megabase of heterochromatic sequence within the pericentromeric region of the short and long arm of the chromosome. Sequence annotation revealed 1,357 genes, of which 816 are protein coding, and 430 are pseudogenes. We observed widespread occurrence of overlapping coding genes (either strand) and identified 67 antisense transcripts. Our analysis suggests that both inter- and intrachromosomal segmental duplications have impacted on the gene count on chromosome 10. Multispecies comparative analysis indicated that we can readily annotate the protein-coding genes with current resources. We estimate that over 95% of all coding exons were identified in this study. Assessment of single base changes between the human chromosome 10 and chimpanzee sequence revealed nonsense mutations in only 21 coding genes with respect to the human sequence.

Published
2004
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5. The DNA sequence and analysis of human chromosome 13.

Author

Dunham A, Matthews LH, Burton J, Ashurst JL, Howe KL, Ashcroft KJ, Beare DM, Burford DC, Hunt SE, Griffiths-Jones S, Jones MC, Keenan SJ, Oliver K, Scott CE, Ainscough R, Almeida JP, Ambrose KD, Andrews DT, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Bannerjee R, Barlow KF, Bates K, Beasley H, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burrill W, Carder C, Carter NP, Chapman JC, Clamp ME, Clark SY, Clarke G, Clee CM, Clegg SC, Cobley V, Collins JE, Corby N, Coville GJ, Deloukas P, Dhami P, Dunham I, Dunn M, Earthrowl ME, Ellington AG, Faulkner L, Frankish AG, Frankland J, French L, Garner P, Garnett J, Gilbert JG, Gilson CJ, Ghori J, Grafham DV, Gribble SM, Griffiths C, Hall RE, Hammond S, Harley JL, Hart EA, Heath PD, Howden PJ, Huckle EJ, Hunt PJ, Hunt AR, Johnson C, Johnson D, Kay M, Kimberley AM, King A, Laird GK, Langford CJ, Lawlor S, Leongamornlert DA, Lloyd DM, Lloyd C, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, McLaren SJ, McMurray A, Milne S, Moore MJ, Nickerson T, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B, Porter KM, Rice CM, Searle S, Sehra HK, Shownkeen R, Skuce CD, Smith M, Steward CA, Sycamore N, Tester J, Thomas DW, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Wilming L, Wray PW, Wright MW, Young L, Coulson A, Durbin R, Hubbard T, Sulston JE, Beck S, Bentley DR, Rogers J, and Ross MT

Subjects
Chromosome Mapping, Genetics, Medical, Humans, Pseudogenes genetics, RNA, Untranslated genetics, Sequence Analysis, DNA, Chromosomes, Human, Pair 13 genetics, Genes genetics, Physical Chromosome Mapping
Abstract

Chromosome 13 is the largest acrocentric human chromosome. It carries genes involved in cancer including the breast cancer type 2 (BRCA2) and retinoblastoma (RB1) genes, is frequently rearranged in B-cell chronic lymphocytic leukaemia, and contains the DAOA locus associated with bipolar disorder and schizophrenia. We describe completion and analysis of 95.5 megabases (Mb) of sequence from chromosome 13, which contains 633 genes and 296 pseudogenes. We estimate that more than 95.4% of the protein-coding genes of this chromosome have been identified, on the basis of comparison with other vertebrate genome sequences. Additionally, 105 putative non-coding RNA genes were found. Chromosome 13 has one of the lowest gene densities (6.5 genes per Mb) among human chromosomes, and contains a central region of 38 Mb where the gene density drops to only 3.1 genes per Mb.

Published
2004
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6. The DNA sequence and analysis of human chromosome 6.

Author

Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, and Beck S

Subjects
Animals, Exons genetics, Genetic Diseases, Inborn genetics, HLA-B Antigens genetics, Humans, Pseudogenes genetics, RNA, Transfer genetics, Sequence Analysis, DNA, Chromosomes, Human, Pair 6 genetics, Genes genetics, Physical Chromosome Mapping
Abstract

Chromosome 6 is a metacentric chromosome that constitutes about 6% of the human genome. The finished sequence comprises 166,880,988 base pairs, representing the largest chromosome sequenced so far. The entire sequence has been subjected to high-quality manual annotation, resulting in the evidence-supported identification of 1,557 genes and 633 pseudogenes. Here we report that at least 96% of the protein-coding genes have been identified, as assessed by multi-species comparative sequence analysis, and provide evidence for the presence of further, otherwise unsupported exons/genes. Among these are genes directly implicated in cancer, schizophrenia, autoimmunity and many other diseases. Chromosome 6 harbours the largest transfer RNA gene cluster in the genome; we show that this cluster co-localizes with a region of high transcriptional activity. Within the essential immune loci of the major histocompatibility complex, we find HLA-B to be the most polymorphic gene on chromosome 6 and in the human genome.

Published
2003
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7. The DNA sequence and comparative analysis of human chromosome 20.

Author

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, and Rogers J

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

Published
2001
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