The DNA sequence of human chromosome 22
Ian Dunham,Nobuyoshi Shimizu,Bruce A. Roe,S. Chissoe,Adrienne Hunt,Joanna Collins,Richard Bruskiewich,David Beare,Michele Clamp,Luc J. Smink,R Ainscough,J P Almeida,A K Babbage,C L Bagguley,J Bailey,K F Barlow,K Bates,O. Beasley,Christine P. Bird,S. Blakey,Anne Bridgeman,D. Buck,J. Burgess,J. Burgess,W Burrill,John Burton,C Carder,Nigel P. Carter,Yuan Chen,Graeme T Clark,S. M. Clegg,V. Cobley,Charlotte G. Cole,R. E. Collier,R. Connor,D. Conroy,N Corby,G. J. Coville,Antony V. Cox,J. C. Davis,J. C. Davis,Elisabeth Dawson,Pawandeep Dhami,C. Dockree,S. J. Dodsworth,Richard Durbin,Andrew D. Ellington,Kathryn L. Evans,J. M. Fey,K. Fleming,Lisa French,A. A. Garner,James G. R. Gilbert,Melanie E. Goward,Darren Grafham,Mark Griffiths,C. Hall,C. Hall,Rebekah Hall,G. Hall-Tamlyn,R. W. Heathcott,R. W. Heathcott,Shuk-Mei Ho,S. Holmes,Sarah E. Hunt,Matthew Jones,J K Kershaw,A M Kimberley,A. King,Gavin K. Laird,Cordelia Langford,Margaret A. Leversha,Christine Lloyd,D. M. Lloyd,I. D. Martyn,M Mashreghi-Mohammadi,Lucy Matthews,O. T. McCann,Joseph L. McClay,Stuart McLaren,Amanda McMurray,Sarah Milne,B. J. Mortimore,C. Odell,R. Pavitt,A. V. Pearce,D. Pearson,Benjamin Phillimore,Sam Phillips,Robert W. Plumb,H. Ramsay,Y. Ramsey,Lesley J. Rogers,Mark T. Ross,Carol Scott,Harminder Sehra,C. D. Skuce,S. Smalley,Michelle Smith,Carol Soderlund,L. Spragon,Charles A. Steward,John Sulston,R. M. Swann,M. Vaudin,M. Vaudin,Melanie M. Wall,J. M. Wallis,M. N. Whiteley,M. N. Whiteley,Dave Willey,L. Williams,Scott M. Williams,H. Williamson,H. Williamson,T. E. Wilmer,Laurens G. Wilming,Charmain L. Wright,Tim Hubbard,David R. Bentley,Stephan Beck,Jane Rogers,Shinsei Minoshima,Kazuhiko Kawasaki,Takashi Sasaki,Shuichi Asakawa,Jun Kudoh,Ai Shintani,Kazunori Shibuya,Y. Yoshizaki,Noriaki Aoki,Susumu Mitsuyama,Feng Chen,L. Chu,Judy S. Crabtree,Stéphane Deschamps,A. Do,T. Do,Angela Dorman,F. Fang,Y. Fu,P. Hu,Axin Hua,Steve Kenton,Hongshing Lai,H. I. Lao,Jennifer Lewis,S. Lewis,Shaoping Lin,P. Loh,Eda Malaj,T. Nguyen,Huaqin Pan,S. Phan,S. Qi,Y. Qian,L. Ray,Q. Ren,S. Shaull,D. Sloan,L. Song,Q. Wang,Yuhang Wang,Z. Wang,Jim White,D. Willingham,H. Wu,Ziyun Yao,M. Zhan,Genwei Zhang,Joseph A. Murray,N. Miller,Patrick Minx,Robert S. Fulton,David W. Johnson,G. Bemis,David Bentley,H. Bradshaw,S. Bourne,Matt Cordes,Zijin Du,Lucinda Fulton,D. Goela,Tina Graves,J. Hawkins,K. Hinds,K. Kemp,Phil Latreille,Dan Layman,Philip Ozersky,Tracy Rohlfing,Paul Scheet,C. Walker,A. Wamsley,Patricia Wohldmann,Kymberlie H. Pepin,Joanne O. Nelson,Ian F Korf,Joseph A. Bedell,LaDeana W. Hillier,Elaine R. Mardis,Robert H. Waterston,Richard K. Wilson,Beverly S. Emanuel,Tamim H. Shaikh,Hiroki Kurahashi,Sulagna C. Saitta,M. L. Budarf,Heather E. McDermid,Alexander Johnson,A. C.C. Wong,Bernice E. Morrow,Lisa Edelmann,U. J. Kim,Hiroaki Shizuya,Melvin I. Simon,Jan P. Dumanski,Myriam Peyrard,Darek Kedra,Eyal Seroussi,Ingegerd Fransson,I. Tapia,Carl E.G. Bruder,K. P. O'Brien +223 more
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TLDR
The sequence of the euchromatic part of human chromosome 22 is reported, which consists of 12 contiguous segments spanning 33.4 megabases, contains at least 545 genes and 134 pseudogenes, and provides the first view of the complex chromosomal landscapes that will be found in the rest of the genome.Abstract:
Knowledge of the complete genomic DNA sequence of an organism allows a systematic approach to defining its genetic components. The genomic sequence provides access to the complete structures of all genes, including those without known function, their control elements, and, by inference, the proteins they encode, as well as all other biologically important sequences. Furthermore, the sequence is a rich and permanent source of information for the design of further biological studies of the organism and for the study of evolution through cross-species sequence comparison. The power of this approach has been amply demonstrated by the determination of the sequences of a number of microbial and model organisms. The next step is to obtain the complete sequence of the entire human genome. Here we report the sequence of the euchromatic part of human chromosome 22. The sequence obtained consists of 12 contiguous segments spanning 33.4 megabases, contains at least 545 genes and 134 pseudogenes, and provides the first view of the complex chromosomal landscapes that will be found in the rest of the genome.read more
Citations
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A novel insulinoma tumor suppressor gene locus on chromosome 22q with potential prognostic implications.
TL;DR: The observed high frequency of chromosome 22q12 deletions in insulinomas is suggestive for a region compatible with harboring a tumor suppressor gene, and the hSNF5/INI1 gene is most likely not the candidate gene, because no alterations could be identified.
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Frequency and coverage of trinucleotide repeats in eukaryotes.
TL;DR: Possible constraints in tri-repeat expansion seem to be structural and conserved along the evolutionary scale: a motif-specific relaxation of the relevant controls may be responsible for the occasional expansions found in mouse and man.
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Manhattan versus Reykjavik
TL;DR: Where is it best to hunt for genes that underlie cancer and heart disease?
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Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing.
Andrew Wong,Christa Lese Martin,Konstantina Heretis,Teresa Ruffalo,Kim Wilber,Walter King,David H. Ledbetter +6 more
TL;DR: ACGH is demonstrated to be an equivalent methodology to telomere FISH for detecting submicroscopic deletions and small duplications that are not easily visible by FISH can be accurately detected using aCGH.
Journal ArticleDOI
Genome and protein evolution in eukaryotes
TL;DR: The past year has seen the completion of the genome sequence of the flowering plant Arabidopsis thaliana and the initial sequence reports of the human genome, revealing a huge diversity of gene content within eukaryotic genomes, reflecting different functional demands in different species.
References
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Basic Local Alignment Search Tool
TL;DR: A new approach to rapid sequence comparison, basic local alignment search tool (BLAST), directly approximates alignments that optimize a measure of local similarity, the maximal segment pair (MSP) score.
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TL;DR: The 4,639,221-base pair sequence of Escherichia coli K-12 is presented and reveals ubiquitous as well as narrowly distributed gene families; many families of similar genes within E. coli are also evident.
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