Glithero RJ

References (2)

Title : The DNA sequence and biological annotation of human chromosome 1 - Gregory_2006_Nature_441_315
Author(s) : 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 , Prigmore E
Ref : Nature , 441 :315 , 2006
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.
ESTHER : Gregory_2006_Nature_441_315
PubMedSearch : Gregory_2006_Nature_441_315
PubMedID: 16710414
Gene_locus related to this paper: human-LYPLAL1 , human-PPT1 , human-TMCO4 , human-TMEM53

Title : The DNA sequence and analysis of human chromosome 6 - Mungall_2003_Nature_425_805
Author(s) : 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 , Beck S
Ref : Nature , 425 :805 , 2003
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.
ESTHER : Mungall_2003_Nature_425_805
PubMedSearch : Mungall_2003_Nature_425_805
PubMedID: 14574404
Gene_locus related to this paper: human-ABHD16A , human-BPHL , human-FAM135A , human-PRSS16 , human-SERAC1