التفاصيل البيبلوغرافية
العنوان:
The DNA sequence and biological annotation of human chromosome 1
المؤلفون:
S G, Gregory , K F, Barlow , K E, McLay , R, Kaul , D, Swarbreck , A, Dunham , C E, Scott , K L, Howe , K, Woodfine , C C A, Spencer , M C, Jones , C, Gillson , S, Searle , Y, Zhou , F, Kokocinski , L, McDonald , R, Evans , K, Phillips , A, Atkinson , R, Cooper , C, Jones , R E, Hall , T D, Andrews , C, Lloyd , R, Ainscough , J P, Almeida , K D, Ambrose , F, Anderson , R W, Andrew , R I S, Ashwell , K, Aubin , A K, Babbage , C L, Bagguley , J, Bailey , H, Beasley , G, Bethel , C P, Bird , S, Bray-Allen , J Y, Brown , A J, Brown , D, Buckley , J, Burton , J, Bye , C, Carder , J C, Chapman , S Y, Clark , G, Clarke , C, Clee , V, Cobley , R E, Collier , N, Corby , G J, Coville , J, Davies , R, Deadman , M, Dunn , M, Earthrowl , A G, Ellington , H, Errington , A, Frankish , J, Frankland , L, French , P, Garner , J, Garnett , L, Gay , M R J, Ghori , R, Gibson , L M, Gilby , W, Gillett , R J, Glithero , D V, Grafham , C, Griffiths , S, Griffiths-Jones , R, Grocock , S, Hammond , E S I, Harrison , E, Hart , E, Haugen , P D, Heath , S, Holmes , K, Holt , P J, Howden , A R, Hunt , S E, Hunt , G, Hunter , J, Isherwood , R, James , C, Johnson , D, Johnson , A, Joy , M, Kay , J K, Kershaw , M, Kibukawa , A M, Kimberley , A, King , A J, Knights , H, Lad , G, Laird , S, Lawlor , D A, Leongamornlert , D M, Lloyd , J, Loveland , J, Lovell , M J, Lush , R, Lyne , S, Martin , M, Mashreghi-Mohammadi , L, Matthews , N S W, Matthews , S, McLaren , S, Milne , S, Mistry , M J F, Moore , T, Nickerson , C N, O'Dell , K, Oliver , A, Palmeiri , S A, Palmer , A, Parker , D, Patel , A V, Pearce , A I, Peck , S, Pelan , K, Phelps , B J, Phillimore , R, Plumb , J, Rajan , C, Raymond , G, Rouse , C, Saenphimmachak , H K, Sehra , E, Sheridan , R, Shownkeen , S, Sims , C D, Skuce , M, Smith , C, Steward , S, Subramanian , N, Sycamore , A, Tracey , A, Tromans , Z, Van Helmond , M, Wall , J M, Wallis , S, White , S L, Whitehead , J E, Wilkinson , D L, Willey , H, Williams , L, Wilming , P W, Wray , Z, Wu , A, Coulson , M, Vaudin , J E, Sulston , R, Durbin , T, Hubbard , R, Wooster , I, Dunham , N P, Carter , G, McVean , M T, Ross , J, Harrow , M V, Olson , S, Beck , J, Rogers , D R, Bentley , R, Banerjee , S P, Bryant , D C, Burford , W D H, Burrill , S M, Clegg , P, Dhami , O, Dovey , L M, Faulkner , S M, Gribble , C F, Langford , R D, Pandian , K M, Porter , E, Prigmore
المصدر:
Nature . 441(7091)
سنة النشر:
2005
مصطلحات موضوعية:
Sequence analysis , DNA Replication Timing , Molecular Sequence Data , Locus (genetics) , Biology , Structural variation , Open Reading Frames , Chromosome 19 , Gene Duplication , Humans , Disease , Selection, Genetic , Genetics , Recombination, Genetic , Multidisciplinary , Gene map , Base Sequence , Genetic Variation , Genome project , Genomics , Sequence Analysis, DNA , Genes , Chromosomes, Human, Pair 1 , Human genome , Chromosome 21 , Pseudogenes
الوصف:
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.
تدمد:
1476-4687
URL الوصول:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::404167846cf78bed2f63820ed1483b90 https://pubmed.ncbi.nlm.nih.gov/16710414
Rights:
OPEN
رقم الانضمام:
edsair.doi.dedup.....404167846cf78bed2f63820ed1483b90
قاعدة البيانات:
OpenAIRE