Article
The DNA sequence and biological annotation of human chromosome 1.
Nature - 18 May 2006
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, Cooper R, Jones C, Hall R E, Andrews T D, Lloyd C, Ainscough R, Almeida J P, Ambrose K D, Anderson F, Andrew R W, Ashwell R I S, Aubin K, Babbage A K, Bagguley C L, Bailey J, Beasley H, Bethel G, Bird C P, Bray-Allen S, Brown J Y, Brown A J, Buckley D, Burton J, Bye J, Carder C, Chapman J C, Clark S Y, Clarke G, Clee C, Cobley V, Collier R E, Corby N, Coville G J, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington A G, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori M R J, Gibson R, Gilby L M, Gillett W, Glithero R J, Grafham D V, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison E S I, Hart E, Haugen E, Heath P D, Holmes S, Holt K, Howden P J, Hunt A R, Hunt S E, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw J K, Kibukawa M, Kimberley A M, King A, Knights A J, Lad H, Laird G, Lawlor S, Leongamornlert D A, Lloyd D M, Loveland J, Lovell J, Lush M J, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews N S W, McLaren S, Milne S, Mistry S, Moore M J F, Nickerson T, O'Dell C N, Oliver K, Palmeiri A, Palmer S A, Parker A, Patel D, Pearce A V, Peck A I, Pelan S, Phelps K, Phillimore B J, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra H K, Sheridan E, Shownkeen R, Sims S, Skuce C D, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis J M, White S, Whitehead S L, Wilkinson J E, Willey D L, Williams H, Wilming L, Wray P W, Wu Z, Coulson A, Vaudin M, Sulston J E, Durbin R, Hubbard T, Wooster R, Dunham I, Carter N P, McVean G, Ross M T, Harrow J, Olson M V, Beck S, Rogers J, Bentley D R, Banerjee R, Bryant S P, Burford D C, Burrill W D H, Clegg S M, Dhami P, Dovey O, Faulkner L M, Gribble S M, Langford C F, Pandian R D, Porter K M, Prigmore E
Abstract excerpt
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....
