Gregory, SG and Barlow, KF and Mclay, KE and Kaul, R and Swarbreck, D and Dunham, A and Scott, CE and Howe, KL and Woodfine, K and Spencer, CCA and Jones, MC and Gillson, C and Searle, S and Zhou, Y and Kokocinski, F and McDonald, L and Evans, R and Phillips, K and Atkinson, A and Cooper, R and Jones, C and Hall, RE and Andrews, TD and Lloyd, C and Ainscough, R and Almeida, JP and Ambrose, KD and Anderson, F and Andrew, RW and Ashwell, RIS and Aubin, K and Babbage, AK and Bagguley, CL and Bailey, J and Beasley, H and Bethel, G and Bird, CP and Bray-Allen, S and Brown, JY and Brown, AJ and Buckley, D and Burton, J and Bye, J and Carder, C and Chapman, JC and Clark, SY and Clarke, G and Clee, C and Cobley, V and Collier, RE and Corby, N and Coville, GJ and Davies, J and Deadman, R and Dunn, M and Earthrowl, M and Ellington, AG and Errington, H and Frankish, A and Frankland, J and French, L and Garner, P and Garnett, J and Gay, L and Ghori, MRJ and Gibson, R and Gilby, LM and Gillett, W and Glithero, RJ and Grafham, DV and Griffiths, C and Griffiths-Jones, S and Grocock, R and Hammond, S and Harrison, ESI and Hart, E and Haugen, E and Heath, PD and Holmes, S and Holt, K and Howden, PJ and Hunt, AR and Hunt, SE and Hunter, G and Isherwood, J and James, R and Johnson, C and Johnson, D and Joy, A and Kay, M and Kershaw, JK and Kibukawa, M and Kimberley, AM and King, A and Knights, AJ and Lad, H and Laird, G and Lawlor, S and Leongamornlert, DA and Lloyd, DM and Loveland, J and Lovell, J and Lush, MJ and Lyne, R and Martin, S and Mashreghi-Mohammadi, M and Matthews, L and Matthews, NSW and McLaren, S and Milne, S and Mistry, S and Moore, MJF and Nickerson, T and O'Dell, CN and Oliver, K and Palmeiri, A and Palmer, SA and Parker, A and Patel, D and Pearce, AV and Peck, AI and Pelan, S and Phelps, K and Phillimore, BJ and Plumb, R and Rajan, J and Raymond, C and Rouse, G and Saenphimmachak, C and Sehra, HK and Sheridan, E and Shownkeen, R and Sims, S and Skuce, CD and Smith, M and Steward, C and Subramanian, S and Sycamore, N and Tracey, A and Tromans, A and Van Helmond, Z and Wall, M and Wallis, JM and White, S and Whitehead, SL and Wilkinson, JE and Willey, DL and Williams, H and Wilming, L and Wray, PW and Wu, Z and Coulson, A and Vaudin, M and Sulston, JE and Durbin, R and Hubbard, T and Wooster, R and Dunham, I and Carter, NP and McVean, G and Ross, MT and Harrow, J and Olson, MV and Beck, S and Rogers, J and Bentley, DR (2006) The DNA sequence and biological annotation of human chromosome 1. NATURE , 441 (7091) 315 - 321. 10.1038/nature04727.
Full text not available from this repository.
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.
|Title:||The DNA sequence and biological annotation of human chromosome 1|
|Keywords:||COPY NUMBER POLYMORPHISM, HUMAN GENOME, ARRAY-CGH, REPLICATION, GENE, EVOLUTION, MAP, TRANSCRIPTION, CHROMATIN, ORGANIZATION|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Medical Sciences > Medicine (Division of)|
UCL > School of Life and Medical Sciences > Faculty of Medical Sciences > Wolfson Institute and Cancer Institute Administration > Cancer Institute > Research Department of Cancer Biology
Archive Staff Only: edit this record