%0 Journal Article %J Nature %D 2005 %T Generation and annotation of the DNA sequences of human chromosomes 2 and 4. %A Hillier, LaDeana W %A Graves, Tina A %A Fulton, Robert S %A Fulton, Lucinda A %A Pepin, Kymberlie H %A Minx, Patrick %A Wagner-McPherson, Caryn %A Layman, Dan %A Wylie, Kristine %A Sekhon, Mandeep %A Becker, Michael C %A Fewell, Ginger A %A Delehaunty, Kimberly D %A Miner, Tracie L %A Nash, William E %A Kremitzki, Colin %A Oddy, Lachlan %A Du, Hui %A Sun, Hui %A Bradshaw-Cordum, Holland %A Ali, Johar %A Carter, Jason %A Cordes, Matt %A Harris, Anthony %A Isak, Amber %A van Brunt, Andrew %A Nguyen, Christine %A Du, Feiyu %A Courtney, Laura %A Kalicki, Joelle %A Ozersky, Philip %A Abbott, Scott %A Armstrong, Jon %A Belter, Edward A %A Caruso, Lauren %A Cedroni, Maria %A Cotton, Marc %A Davidson, Teresa %A Desai, Anu %A Elliott, Glendoria %A Erb, Thomas %A Fronick, Catrina %A Gaige, Tony %A Haakenson, William %A Haglund, Krista %A Holmes, Andrea %A Harkins, Richard %A Kim, Kyung %A Kruchowski, Scott S %A Strong, Cynthia Madsen %A Grewal, Neenu %A Goyea, Ernest %A Hou, Shunfang %A Levy, Andrew %A Martinka, Scott %A Mead, Kelly %A McLellan, Michael D %A Meyer, Rick %A Randall-Maher, Jennifer %A Tomlinson, Chad %A Dauphin-Kohlberg, Sara %A Kozlowicz-Reilly, Amy %A Shah, Neha %A Swearengen-Shahid, Sharhonda %A Snider, Jacqueline %A Strong, Joseph T %A Thompson, Johanna %A Yoakum, Martin %A Leonard, Shawn %A Pearman, Charlene %A Trani, Lee %A Radionenko, Maxim %A Waligorski, Jason E %A Wang, Chunyan %A Rock, Susan M %A Tin-Wollam, Aye-Mon %A Maupin, Rachel %A Latreille, Phil %A Wendl, Michael C %A Yang, Shiaw-Pyng %A Pohl, Craig %A Wallis, John W %A Spieth, John %A Bieri, Tamberlyn A %A Berkowicz, Nicolas %A Nelson, Joanne O %A Osborne, John %A Ding, Li %A Meyer, Rekha %A Aniko Sabo %A Shotland, Yoram %A Sinha, Prashant %A Wohldmann, Patricia E %A Cook, Lisa L %A Hickenbotham, Matthew T %A Eldred, James %A Williams, Donald %A Jones, Thomas A %A She, Xinwei %A Ciccarelli, Francesca D %A Izaurralde, Elisa %A Taylor, James %A Schmutz, Jeremy %A Myers, Richard M %A Cox, David R %A Huang, Xiaoqiu %A McPherson, John D %A Mardis, Elaine R %A Clifton, Sandra W %A Warren, Wesley C %A Chinwalla, Asif T %A Eddy, Sean R %A Marra, Marco A %A Ovcharenko, Ivan %A Furey, Terrence S %A Miller, Webb %A Eichler, Evan E %A Bork, Peer %A Suyama, Mikita %A Torrents, David %A Waterston, Robert H %A Wilson, Richard K %K Animals %K Base Composition %K Base Sequence %K Centromere %K Chromosomes, Human, Pair 2 %K Chromosomes, Human, Pair 4 %K Conserved Sequence %K CpG Islands %K Euchromatin %K Expressed Sequence Tags %K Gene Duplication %K Genetic Variation %K Genomics %K Humans %K Molecular Sequence Data %K Physical Chromosome Mapping %K Polymorphism, Genetic %K Primates %K Proteins %K Pseudogenes %K Recombination, Genetic %K RNA, Messenger %K RNA, Untranslated %K Sequence Analysis, DNA %X

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.

%B Nature %V 434 %P 724-31 %8 2005 Apr 07 %G eng %N 7034 %1 https://www.ncbi.nlm.nih.gov/pubmed/15815621?dopt=Abstract %R 10.1038/nature03466 %0 Journal Article %J Nature %D 2003 %T The DNA sequence of human chromosome 7. %A Hillier, LaDeana W %A Fulton, Robert S %A Fulton, Lucinda A %A Graves, Tina A %A Pepin, Kymberlie H %A Wagner-McPherson, Caryn %A Layman, Dan %A Maas, Jason %A Jaeger, Sara %A Walker, Rebecca %A Wylie, Kristine %A Sekhon, Mandeep %A Becker, Michael C %A O'Laughlin, Michelle D %A Schaller, Mark E %A Fewell, Ginger A %A Delehaunty, Kimberly D %A Miner, Tracie L %A Nash, William E %A Cordes, Matt %A Du, Hui %A Sun, Hui %A Edwards, Jennifer %A Bradshaw-Cordum, Holland %A Ali, Johar %A Andrews, Stephanie %A Isak, Amber %A Vanbrunt, Andrew %A Nguyen, Christine %A Du, Feiyu %A Lamar, Betty %A Courtney, Laura %A Kalicki, Joelle %A Ozersky, Philip %A Bielicki, Lauren %A Scott, Kelsi %A Holmes, Andrea %A Harkins, Richard %A Harris, Anthony %A Strong, Cynthia Madsen %A Hou, Shunfang %A Tomlinson, Chad %A Dauphin-Kohlberg, Sara %A Kozlowicz-Reilly, Amy %A Leonard, Shawn %A Rohlfing, Theresa %A Rock, Susan M %A Tin-Wollam, Aye-Mon %A Abbott, Amanda %A Minx, Patrick %A Maupin, Rachel %A Strowmatt, Catrina %A Latreille, Phil %A Miller, Nancy %A Johnson, Doug %A Murray, Jennifer %A Woessner, Jeffrey P %A Wendl, Michael C %A Yang, Shiaw-Pyng %A Schultz, Brian R %A Wallis, John W %A Spieth, John %A Bieri, Tamberlyn A %A Nelson, Joanne O %A Berkowicz, Nicolas %A Wohldmann, Patricia E %A Cook, Lisa L %A Hickenbotham, Matthew T %A Eldred, James %A Williams, Donald %A Bedell, Joseph A %A Mardis, Elaine R %A Clifton, Sandra W %A Chissoe, Stephanie L %A Marra, Marco A %A Raymond, Christopher %A Haugen, Eric %A Gillett, Will %A Zhou, Yang %A James, Rose %A Phelps, Karen %A Iadanoto, Shawn %A Bubb, Kerry %A Simms, Elizabeth %A Levy, Ruth %A Clendenning, James %A Kaul, Rajinder %A Kent, W James %A Furey, Terrence S %A Baertsch, Robert A %A Brent, Michael R %A Keibler, Evan %A Flicek, Paul %A Bork, Peer %A Suyama, Mikita %A Bailey, Jeffrey A %A Portnoy, Matthew E %A Torrents, David %A Chinwalla, Asif T %A Gish, Warren R %A Eddy, Sean R %A McPherson, John D %A Olson, Maynard V %A Eichler, Evan E %A Green, Eric D %A Waterston, Robert H %A Wilson, Richard K %K Animals %K Base Sequence %K Chromosomes, Human, Pair 7 %K Gene Duplication %K Humans %K Mice %K Molecular Sequence Data %K Physical Chromosome Mapping %K Proteins %K Pseudogenes %K RNA, Untranslated %K Sequence Analysis, DNA %K Species Specificity %K Williams Syndrome %X

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.

%B Nature %V 424 %P 157-64 %8 2003 Jul 10 %G eng %N 6945 %1 https://www.ncbi.nlm.nih.gov/pubmed/12853948?dopt=Abstract %R 10.1038/nature01782