The DNA sequence and biological annotation of human chromosome 1.
Gregory SG., Barlow KF., McLay KE., Kaul R., Swarbreck D., Dunham A., Scott CE., Howe KL., Woodfine K., Spencer CCA., 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 RIS., 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 MRJ., Gibson R., Gilby LM., Gillett W., Glithero RJ., Grafham DV., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison ESI., 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 NSW., McLaren S., Milne S., Mistry S., Moore MJF., 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 WDH., Clegg SM., Dhami P., Dovey O., Faulkner LM., Gribble SM., Langford CF., Pandian RD., Porter KM., Prigmore E.
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.