التفاصيل البيبلوغرافية
العنوان:
Generation and annotation of the DNA sequences of human chromosomes 2 and 4
المؤلفون:
Xinwei She , Sara Dauphin-Kohlberg , Robert H. Waterston , Patricia Wohldmann , Joelle Kalicki , Ivan Ovcharenko , Shawn Leonard , Scott Kruchowski , Ernest Goyea , William Haakenson , Scott Abbott , Catrina Fronick , Aniko Sabo , Maria Cedroni , Edward A. Belter , Hui Du , Asif T. Chinwalla , Kelly Mead , Michael C. Wendl , Rachel Maupin , Amber Isak , David R. Cox , Tamberlyn Bieri , LaDeana W. Hillier , Lee Trani , Neenu Grewal , Aye Mon Tin-Wollam , Rick Meyer , Lachlan G. Oddy , Lucinda Fulton , Li Ding , Richard M. Myers , Neha Shah , Colin Kremitzki , Tracie L. Miner , Holland Bradshaw-Cordum , Tina Graves , Glendoria Elliott , Matthew T. Hickenbotham , Wesley C. Warren , Mandeep Sekhon , Anu Desai , Jason Carter , Thomas Erb , Webb Miller , Prashant R. Sinha , Richard K. Wilson , Krista Haglund , John Spieth , Craig Pohl , Lisa Cook , John Douglas Mcpherson , Patrick Minx , Susan M. Rock , Ginger A. Fewell , Thomas A. Jones , Michael C. Becker , Yoram Shotland , Chunyan Wang , Jason Waligorski , Kyung Kim , Nicolas Berkowicz , Amy Kozlowicz-Reilly , Johar Ali , Xiaoqiu Huang , Shiaw Pyng Yang , Sean R. Eddy , Mikita Suyama , Francesca D. Ciccarelli , Martin Yoakum , John W. Wallis , Kristine M. Wylie , Maxim Radionenko , Donald Williams , Richard Harkins , Terrence S. Furey , Jacqueline E. Snider , Michael D. McLellan , Andrea Holmes , Shunfang Hou , Johanna Thompson , Andrew Van Brunt , Hui Sun , Teresa Davidson , Rekha Meyer , Feiyu Du , Jennifer Randall-Maher , Chad Tomlinson , Jon R. Armstrong , Robert S. Fulton , William E. Nash , Philip Ozersky , Marc Cotton , Sandra W. Clifton , Elisa Izaurralde , Lauren Caruso , Joanne O. Nelson , James M. Eldred , Sharhonda Swearengen-Shahid , Marco A. Marra , Caryn Wagner-McPherson , Cindy Strong , David Torrents , Phil Latreille , Peer Bork , Elaine R. Mardis , Andrew Levy , Evan E. Eichler , Laura Courtney , Anthony R. Harris , Jeremy Schmutz , Christine Nguyen , Dan Layman , James Taylor , Matt Cordes , Joseph T. Strong , Kimberly D. Delehaunty , Kymberlie H. Pepin , Scott Martinka , Tony Gaige , Charlene Pearman , John R. Osborne
المصدر:
Nature . 434(7034)
سنة النشر:
2004
مصطلحات موضوعية:
Primates , RNA, Untranslated , Centromere , Molecular Sequence Data , Biology , Euchromatin , Chromosome 16 , Chromosome 19 , Gene Duplication , Animals , Humans , RNA, Messenger , Conserved Sequence , Genetics , Expressed Sequence Tags , Recombination, Genetic , Base Composition , Multidisciplinary , Polymorphism, Genetic , Base Sequence , Genetic Variation , Proteins , Genomics , Sequence Analysis, DNA , Physical Chromosome Mapping , Chromosome 17 (human) , Chromosome 4 , Chromosome 3 , Chromosomes, Human, Pair 2 , CpG Islands , Chromosome 20 , Chromosomes, Human, Pair 4 , Chromosome 21 , Chromosome 22 , Pseudogenes
الوصف:
Human chromosome 2 is unique to the human lineage in being the product of a head-to-head fusion of two intermediate-sized ancestral chromosomes. Chromosome 4 has received attention primarily related to the search for the Huntington's disease gene, but also for genes associated with Wolf-Hirschhorn syndrome, polycystic kidney disease and a form of muscular dystrophy. Here we present approximately 237 million base pairs of sequence for chromosome 2, and 186 million base pairs for chromosome 4, representing more than 99.6% of their euchromatic sequences. Our initial analyses have identified 1,346 protein-coding genes and 1,239 pseudogenes on chromosome 2, and 796 protein-coding genes and 778 pseudogenes on chromosome 4. Extensive analyses confirm the underlying construction of the sequence, and expand our understanding of the structure and evolution of mammalian chromosomes, including gene deserts, segmental duplications and highly variant regions.
تدمد:
1476-4687
URL الوصول:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::217dd5dd6fd81fdfd6c81afc4084bcbe https://pubmed.ncbi.nlm.nih.gov/15815621
حقوق:
OPEN
رقم الأكسشن:
edsair.doi.dedup.....217dd5dd6fd81fdfd6c81afc4084bcbe
قاعدة البيانات:
OpenAIRE
