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  1. Artikel ; Online: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

    Hillier, Ladeana W / Graves, Tina A / Fulton, Robert S / Fulton, Lucinda A / Pepin, Kymberlie H / Minx, Patrick / Wagner-McPherson, Caryn / Layman, Dan / Wylie, Kristine / Sekhon, Mandeep / Becker, Michael C / Fewell, Ginger A / Delehaunty, Kimberly D / Miner, Tracie L / Nash, William E / Kremitzki, Colin / Oddy, Lachlan / Du, Hui / Sun, Hui /
    Bradshaw-Cordum, Holland / Ali, Johar / Carter, Jason / Cordes, Matt / Harris, Anthony / Isak, Amber / van Brunt, Andrew / Nguyen, Christine / Du, Feiyu / Courtney, Laura / Kalicki, Joelle / Ozersky, Philip / Abbott, Scott / Armstrong, Jon / Belter, Edward A / Caruso, Lauren / Cedroni, Maria / Cotton, Marc / Davidson, Teresa / Desai, Anu / Elliott, Glendoria / Erb, Thomas / Fronick, Catrina / Gaige, Tony / Haakenson, William / Haglund, Krista / Holmes, Andrea / Harkins, Richard / Kim, Kyung / Kruchowski, Scott S / Strong, Cynthia Madsen / Grewal, Neenu / Goyea, Ernest / Hou, Shunfang / Levy, Andrew / Martinka, Scott / Mead, Kelly / McLellan, Michael D / Meyer, Rick / Randall-Maher, Jennifer / Tomlinson, Chad / Dauphin-Kohlberg, Sara / Kozlowicz-Reilly, Amy / Shah, Neha / Swearengen-Shahid, Sharhonda / Snider, Jacqueline / Strong, Joseph T / Thompson, Johanna / Yoakum, Martin / Leonard, Shawn / Pearman, Charlene / Trani, Lee / Radionenko, Maxim / Waligorski, Jason E / Wang, Chunyan / Rock, Susan M / Tin-Wollam, Aye-Mon / Maupin, Rachel / Latreille, Phil / Wendl, Michael C / Yang, Shiaw-Pyng / Pohl, Craig / Wallis, John W / Spieth, John / Bieri, Tamberlyn A / Berkowicz, Nicolas / Nelson, Joanne O / Osborne, John / Ding, Li / Meyer, Rekha / Sabo, Aniko / Shotland, Yoram / Sinha, Prashant / Wohldmann, Patricia E / Cook, Lisa L / Hickenbotham, Matthew T / Eldred, James / Williams, Donald / Jones, Thomas A / She, Xinwei / Ciccarelli, Francesca D / Izaurralde, Elisa / Taylor, James / Schmutz, Jeremy / Myers, Richard M / Cox, David R / Huang, Xiaoqiu / McPherson, John D / Mardis, Elaine R / Clifton, Sandra W / Warren, Wesley C / Chinwalla, Asif T / Eddy, Sean R / Marra, Marco A / Ovcharenko, Ivan / Furey, Terrence S / Miller, Webb / Eichler, Evan E / Bork, Peer / Suyama, Mikita / Torrents, David / Waterston, Robert H / Wilson, Richard K

    Nature

    2005  Band 434, Heft 7034, Seite(n) 724–731

    Abstract: 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 ... ...

    Abstract 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.
    Mesh-Begriff(e) Animals ; Base Composition ; Base Sequence ; Centromere/genetics ; Chromosomes, Human, Pair 2/genetics ; Chromosomes, Human, Pair 4/genetics ; Conserved Sequence/genetics ; CpG Islands/genetics ; Euchromatin/genetics ; Expressed Sequence Tags ; Gene Duplication ; Genetic Variation/genetics ; Genomics ; Humans ; Molecular Sequence Data ; Physical Chromosome Mapping ; Polymorphism, Genetic/genetics ; Primates/genetics ; Proteins/genetics ; Pseudogenes/genetics ; RNA, Messenger/analysis ; RNA, Messenger/genetics ; RNA, Untranslated/analysis ; RNA, Untranslated/genetics ; Recombination, Genetic/genetics ; Sequence Analysis, DNA
    Chemische Substanzen Euchromatin ; Proteins ; RNA, Messenger ; RNA, Untranslated
    Sprache Englisch
    Erscheinungsdatum 2005-04-07
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 120714-3
    ISSN 1476-4687 ; 0028-0836
    ISSN (online) 1476-4687
    ISSN 0028-0836
    DOI 10.1038/nature03466
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: The DNA sequence of human chromosome 7.

    Hillier, Ladeana W / Fulton, Robert S / Fulton, Lucinda A / Graves, Tina A / Pepin, Kymberlie H / Wagner-McPherson, Caryn / Layman, Dan / Maas, Jason / Jaeger, Sara / Walker, Rebecca / Wylie, Kristine / Sekhon, Mandeep / Becker, Michael C / O'Laughlin, Michelle D / Schaller, Mark E / Fewell, Ginger A / Delehaunty, Kimberly D / Miner, Tracie L / Nash, William E /
    Cordes, Matt / Du, Hui / Sun, Hui / Edwards, Jennifer / Bradshaw-Cordum, Holland / Ali, Johar / Andrews, Stephanie / Isak, Amber / Vanbrunt, Andrew / Nguyen, Christine / Du, Feiyu / Lamar, Betty / Courtney, Laura / Kalicki, Joelle / Ozersky, Philip / Bielicki, Lauren / Scott, Kelsi / Holmes, Andrea / Harkins, Richard / Harris, Anthony / Strong, Cynthia Madsen / Hou, Shunfang / Tomlinson, Chad / Dauphin-Kohlberg, Sara / Kozlowicz-Reilly, Amy / Leonard, Shawn / Rohlfing, Theresa / Rock, Susan M / Tin-Wollam, Aye-Mon / Abbott, Amanda / Minx, Patrick / Maupin, Rachel / Strowmatt, Catrina / Latreille, Phil / Miller, Nancy / Johnson, Doug / Murray, Jennifer / Woessner, Jeffrey P / Wendl, Michael C / Yang, Shiaw-Pyng / Schultz, Brian R / Wallis, John W / Spieth, John / Bieri, Tamberlyn A / Nelson, Joanne O / Berkowicz, Nicolas / Wohldmann, Patricia E / Cook, Lisa L / Hickenbotham, Matthew T / Eldred, James / Williams, Donald / Bedell, Joseph A / Mardis, Elaine R / Clifton, Sandra W / Chissoe, Stephanie L / Marra, Marco A / Raymond, Christopher / Haugen, Eric / Gillett, Will / Zhou, Yang / James, Rose / Phelps, Karen / Iadanoto, Shawn / Bubb, Kerry / Simms, Elizabeth / Levy, Ruth / Clendenning, James / Kaul, Rajinder / Kent, W James / Furey, Terrence S / Baertsch, Robert A / Brent, Michael R / Keibler, Evan / Flicek, Paul / Bork, Peer / Suyama, Mikita / Bailey, Jeffrey A / Portnoy, Matthew E / Torrents, David / Chinwalla, Asif T / Gish, Warren R / Eddy, Sean R / McPherson, John D / Olson, Maynard V / Eichler, Evan E / Green, Eric D / Waterston, Robert H / Wilson, Richard K

    Nature

    2003  Band 424, Heft 6945, Seite(n) 157–164

    Abstract: Human chromosome 7 has historically received prominent attention in the human genetics community, primarily related to the search for the cystic fibrosis gene and the frequent cytogenetic changes associated with various forms of cancer. Here we present ... ...

    Abstract Human chromosome 7 has historically received prominent attention in the human genetics community, primarily related to the search for the cystic fibrosis gene and the frequent cytogenetic changes associated with various forms of cancer. Here we present more than 153 million base pairs representing 99.4% of the euchromatic sequence of chromosome 7, the first metacentric chromosome completed so far. The sequence has excellent concordance with previously established physical and genetic maps, and it exhibits an unusual amount of segmentally duplicated sequence (8.2%), with marked differences between the two arms. Our initial analyses have identified 1,150 protein-coding genes, 605 of which have been confirmed by complementary DNA sequences, and an additional 941 pseudogenes. Of genes confirmed by transcript sequences, some are polymorphic for mutations that disrupt the reading frame.
    Mesh-Begriff(e) Animals ; Base Sequence ; Chromosomes, Human, Pair 7 ; Gene Duplication ; Humans ; Mice ; Molecular Sequence Data ; Physical Chromosome Mapping ; Proteins/genetics ; Pseudogenes ; RNA, Untranslated ; Sequence Analysis, DNA ; Species Specificity ; Williams Syndrome/genetics
    Chemische Substanzen Proteins ; RNA, Untranslated
    Sprache Englisch
    Erscheinungsdatum 2003-07-10
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 120714-3
    ISSN 1476-4687 ; 0028-0836
    ISSN (online) 1476-4687
    ISSN 0028-0836
    DOI 10.1038/nature01782
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

    Verfügbar in ZB MED Köln/Königswinter

    Zs.A 26: Hefte anzeigen Standort:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MG 9: Hefte anzeigen
    Zs.MO 244: Hefte anzeigen

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

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