%0 Journal Article %J Science %D 2009 %T The genome sequence of taurine cattle: a window to ruminant biology and evolution. %A Elsik, Christine G %A Tellam, Ross L %A Worley, Kim C %A Gibbs, Richard A %A Muzny, Donna M %A Weinstock, George M %A Adelson, David L %A Eichler, Evan E %A Elnitski, Laura %A Guigó, Roderic %A Hamernik, Debora L %A Kappes, Steve M %A Lewin, Harris A %A Lynn, David J %A Nicholas, Frank W %A Reymond, Alexandre %A Rijnkels, Monique %A Skow, Loren C %A Zdobnov, Evgeny M %A Schook, Lawrence %A Womack, James %A Alioto, Tyler %A Antonarakis, Stylianos E %A Astashyn, Alex %A Chapple, Charles E %A Chen, Hsiu-Chuan %A Chrast, Jacqueline %A Camara, Francisco %A Ermolaeva, Olga %A Henrichsen, Charlotte N %A Hlavina, Wratko %A Kapustin, Yuri %A Kiryutin, Boris %A Kitts, Paul %A Kokocinski, Felix %A Landrum, Melissa %A Maglott, Donna %A Pruitt, Kim %A Sapojnikov, Victor %A Searle, Stephen M %A Solovyev, Victor %A Souvorov, Alexandre %A Ucla, Catherine %A Wyss, Carine %A Anzola, Juan M %A Gerlach, Daniel %A Elhaik, Eran %A Graur, Dan %A Reese, Justin T %A Edgar, Robert C %A McEwan, John C %A Payne, Gemma M %A Raison, Joy M %A Junier, Thomas %A Kriventseva, Evgenia V %A Eyras, Eduardo %A Plass, Mireya %A Donthu, Ravikiran %A Larkin, Denis M %A Reecy, James %A Yang, Mary Q %A Chen, Lin %A Cheng, Ze %A Chitko-McKown, Carol G %A Liu, George E %A Matukumalli, Lakshmi K %A Song, Jiuzhou %A Zhu, Bin %A Bradley, Daniel G %A Brinkman, Fiona S L %A Lau, Lilian P L %A Whiteside, Matthew D %A Walker, Angela %A Wheeler, Thomas T %A Casey, Theresa %A German, J Bruce %A Lemay, Danielle G %A Maqbool, Nauman J %A Molenaar, Adrian J %A Seo, Seongwon %A Stothard, Paul %A Baldwin, Cynthia L %A Baxter, Rebecca %A Brinkmeyer-Langford, Candice L %A Brown, Wendy C %A Childers, Christopher P %A Connelley, Timothy %A Ellis, Shirley A %A Fritz, Krista %A Glass, Elizabeth J %A Herzig, Carolyn T A %A Iivanainen, Antti %A Lahmers, Kevin K %A Bennett, Anna K %A Dickens, C Michael %A Gilbert, James G R %A Hagen, Darren E %A Salih, Hanni %A Aerts, Jan %A Caetano, Alexandre R %A Dalrymple, Brian %A Garcia, Jose Fernando %A Gill, Clare A %A Hiendleder, Stefan G %A Memili, Erdogan %A Spurlock, Diane %A Williams, John L %A Alexander, Lee %A Brownstein, Michael J %A Guan, Leluo %A Holt, Robert A %A Jones, Steven J M %A Marra, Marco A %A Moore, Richard %A Moore, Stephen S %A Roberts, Andy %A Taniguchi, Masaaki %A Waterman, Richard C %A Chacko, Joseph %A Chandrabose, Mimi M %A Cree, Andy %A Dao, Marvin Diep %A Dinh, Huyen H %A Gabisi, Ramatu Ayiesha %A Hines, Sandra %A Hume, Jennifer %A Jhangiani, Shalini N %A Joshi, Vandita %A Kovar, Christie L %A Lewis, Lora R %A Liu, Yih-Shin %A Lopez, John %A Morgan, Margaret B %A Nguyen, Ngoc Bich %A Okwuonu, Geoffrey O %A Ruiz, San Juana %A Santibanez, Jireh %A Wright, Rita A %A Buhay, Christian %A Ding, Yan %A Dugan-Rocha, Shannon %A Herdandez, Judith %A Holder, Michael %A Sabo, Aniko %A Egan, Amy %A Goodell, Jason %A Wilczek-Boney, Katarzyna %A Fowler, Gerald R %A Hitchens, Matthew Edward %A Lozado, Ryan J %A Moen, Charles %A Steffen, David %A Warren, James T %A Zhang, Jingkun %A Chiu, Readman %A Schein, Jacqueline E %A Durbin, K James %A Havlak, Paul %A Jiang, Huaiyang %A Liu, Yue %A Qin, Xiang %A Ren, Yanru %A Shen, Yufeng %A Song, Henry %A Bell, Stephanie Nicole %A Davis, Clay %A Johnson, Angela Jolivet %A Lee, Sandra %A Nazareth, Lynne V %A Patel, Bella Mayurkumar %A Pu, Ling-Ling %A Vattathil, Selina %A Williams, Rex Lee %A Curry, Stacey %A Hamilton, Cerissa %A Sodergren, Erica %A Wheeler, David A %A Barris, Wes %A Bennett, Gary L %A Eggen, André %A Green, Ronnie D %A Harhay, Gregory P %A Hobbs, Matthew %A Jann, Oliver %A Keele, John W %A Kent, Matthew P %A Lien, Sigbjørn %A McKay, Stephanie D %A McWilliam, Sean %A Ratnakumar, Abhirami %A Schnabel, Robert D %A Smith, Timothy %A Snelling, Warren M %A Sonstegard, Tad S %A Stone, Roger T %A Sugimoto, Yoshikazu %A Takasuga, Akiko %A Taylor, Jeremy F %A Van Tassell, Curtis P %A Macneil, Michael D %A Abatepaulo, Antonio R R %A Abbey, Colette A %A Ahola, Virpi %A Almeida, Iassudara G %A Amadio, Ariel F %A Anatriello, Elen %A Bahadue, Suria M %A Biase, Fernando H %A Boldt, Clayton R %A Carroll, Jeffery A %A Carvalho, Wanessa A %A Cervelatti, Eliane P %A Chacko, Elsa %A Chapin, Jennifer E %A Cheng, Ye %A Choi, Jungwoo %A Colley, Adam J %A de Campos, Tatiana A %A De Donato, Marcos %A Santos, Isabel K F de Miranda %A de Oliveira, Carlo J F %A Deobald, Heather %A Devinoy, Eve %A Donohue, Kaitlin E %A Dovc, Peter %A Eberlein, Annett %A Fitzsimmons, Carolyn J %A Franzin, Alessandra M %A Garcia, Gustavo R %A Genini, Sem %A Gladney, Cody J %A Grant, Jason R %A Greaser, Marion L %A Green, Jonathan A %A Hadsell, Darryl L %A Hakimov, Hatam A %A Halgren, Rob %A Harrow, Jennifer L %A Hart, Elizabeth A %A Hastings, Nicola %A Hernandez, Marta %A Hu, Zhi-Liang %A Ingham, Aaron %A Iso-Touru, Terhi %A Jamis, Catherine %A Jensen, Kirsty %A Kapetis, Dimos %A Kerr, Tovah %A Khalil, Sari S %A Khatib, Hasan %A Kolbehdari, Davood %A Kumar, Charu G %A Kumar, Dinesh %A Leach, Richard %A Lee, Justin C-M %A Li, Changxi %A Logan, Krystin M %A Malinverni, Roberto %A Marques, Elisa %A Martin, William F %A Martins, Natalia F %A Maruyama, Sandra R %A Mazza, Raffaele %A McLean, Kim L %A Medrano, Juan F %A Moreno, Barbara T %A Moré, Daniela D %A Muntean, Carl T %A Nandakumar, Hari P %A Nogueira, Marcelo F G %A Olsaker, Ingrid %A Pant, Sameer D %A Panzitta, Francesca %A Pastor, Rosemeire C P %A Poli, Mario A %A Poslusny, Nathan %A Rachagani, Satyanarayana %A Ranganathan, Shoba %A Razpet, Andrej %A Riggs, Penny K %A Rincon, Gonzalo %A Rodriguez-Osorio, Nelida %A Rodriguez-Zas, Sandra L %A Romero, Natasha E %A Rosenwald, Anne %A Sando, Lillian %A Schmutz, Sheila M %A Shen, Libing %A Sherman, Laura %A Southey, Bruce R %A Lutzow, Ylva Strandberg %A Sweedler, Jonathan V %A Tammen, Imke %A Telugu, Bhanu Prakash V L %A Urbanski, Jennifer M %A Utsunomiya, Yuri T %A Verschoor, Chris P %A Waardenberg, Ashley J %A Wang, Zhiquan %A Ward, Robert %A Weikard, Rosemarie %A Welsh, Thomas H %A White, Stephen N %A Wilming, Laurens G %A Wunderlich, Kris R %A Yang, Jianqi %A Zhao, Feng-Qi %K Alternative Splicing %K Animals %K Animals, Domestic %K Biological Evolution %K Cattle %K Evolution, Molecular %K Female %K Genetic Variation %K Genome %K Humans %K Male %K MicroRNAs %K Molecular Sequence Data %K Proteins %K Sequence Analysis, DNA %K Species Specificity %K Synteny %X

To understand the biology and evolution of ruminants, the cattle genome was sequenced to about sevenfold coverage. The cattle genome contains a minimum of 22,000 genes, with a core set of 14,345 orthologs shared among seven mammalian species of which 1217 are absent or undetected in noneutherian (marsupial or monotreme) genomes. Cattle-specific evolutionary breakpoint regions in chromosomes have a higher density of segmental duplications, enrichment of repetitive elements, and species-specific variations in genes associated with lactation and immune responsiveness. Genes involved in metabolism are generally highly conserved, although five metabolic genes are deleted or extensively diverged from their human orthologs. The cattle genome sequence thus provides a resource for understanding mammalian evolution and accelerating livestock genetic improvement for milk and meat production.

%B Science %V 324 %P 522-8 %8 2009 Apr 24 %G eng %N 5926 %1 https://www.ncbi.nlm.nih.gov/pubmed/19390049?dopt=Abstract %R 10.1126/science.1169588 %0 Journal Article %J Nature %D 2008 %T The genome of the model beetle and pest Tribolium castaneum. %A Stephen Richards %A Richard A Gibbs %A Weinstock, George M %A Brown, Susan J %A Denell, Robin %A Beeman, Richard W %A Richard A Gibbs %A Beeman, Richard W %A Brown, Susan J %A Bucher, Gregor %A Friedrich, Markus %A Grimmelikhuijzen, Cornelis J P %A Klingler, Martin %A Lorenzen, Marce %A Stephen Richards %A Roth, Siegfried %A Schröder, Reinhard %A Tautz, Diethard %A Zdobnov, Evgeny M %A Donna M Muzny %A Richard A Gibbs %A Weinstock, George M %A Attaway, Tony %A Bell, Stephanie %A Buhay, Christian J %A Chandrabose, Mimi N %A Chavez, Dean %A Clerk-Blankenburg, Kerstin P %A Cree, Andrew %A Dao, Marvin %A Davis, Clay %A Chacko, Joseph %A Dinh, Huyen %A Dugan-Rocha, Shannon %A Fowler, Gerald %A Garner, Toni T %A Garnes, Jeffrey %A Gnirke, Andreas %A Hawes, Alica %A Hernandez, Judith %A Hines, Sandra %A Holder, Michael %A Hume, Jennifer %A Jhangiani, Shalini N %A Joshi, Vandita %A Ziad Khan %A Jackson, Laronda %A Kovar, Christie %A Kowis, Andrea %A Lee, Sandra %A Lewis, Lora R %A Margolis, Jon %A Morgan, Margaret %A Nazareth, Lynne V %A Nguyen, Ngoc %A Okwuonu, Geoffrey %A Parker, David %A Stephen Richards %A Ruiz, San-Juana %A Santibanez, Jireh %A Savard, Joël %A Steven E Scherer %A Schneider, Brian %A Sodergren, Erica %A Tautz, Diethard %A Vattahil, Selina %A Villasana, Donna %A White, Courtney S %A Wright, Rita %A Park, Yoonseong %A Beeman, Richard W %A Lord, Jeff %A Oppert, Brenda %A Lorenzen, Marce %A Brown, Susan %A Wang, Liangjiang %A Savard, Joël %A Tautz, Diethard %A Stephen Richards %A Weinstock, George %A Richard A Gibbs %A Liu, Yue %A Kim C Worley %A Weinstock, George %A Elsik, Christine G %A Reese, Justin T %A Elhaik, Eran %A Landan, Giddy %A Graur, Dan %A Arensburger, Peter %A Atkinson, Peter %A Beeman, Richard W %A Beidler, Jim %A Brown, Susan J %A Demuth, Jeffery P %A Drury, Douglas W %A Du, Yu-Zhou %A Fujiwara, Haruhiko %A Lorenzen, Marce %A Maselli, Vincenza %A Osanai, Mizuko %A Park, Yoonseong %A Robertson, Hugh M %A Tu, Zhijian %A Wang, Jian-jun %A Wang, Suzhi %A Stephen Richards %A Song, Henry %A Zhang, Lan %A Sodergren, Erica %A Werner, Doreen %A Stanke, Mario %A Morgenstern, Burkhard %A Solovyev, Victor %A Kosarev, Peter %A Brown, Garth %A Chen, Hsiu-Chuan %A Ermolaeva, Olga %A Hlavina, Wratko %A Kapustin, Yuri %A Kiryutin, Boris %A Kitts, Paul %A Maglott, Donna %A Pruitt, Kim %A Sapojnikov, Victor %A Souvorov, Alexandre %A Mackey, Aaron J %A Waterhouse, Robert M %A Wyder, Stefan %A Zdobnov, Evgeny M %A Zdobnov, Evgeny M %A Wyder, Stefan %A Kriventseva, Evgenia V %A Kadowaki, Tatsuhiko %A Bork, Peer %A Aranda, Manuel %A Bao, Riyue %A Beermann, Anke %A Berns, Nicola %A Bolognesi, Renata %A Bonneton, François %A Bopp, Daniel %A Brown, Susan J %A Bucher, Gregor %A Butts, Thomas %A Chaumot, Arnaud %A Denell, Robin E %A Ferrier, David E K %A Friedrich, Markus %A Gordon, Cassondra M %A Jindra, Marek %A Klingler, Martin %A Lan, Que %A Lattorff, H Michael G %A Laudet, Vincent %A von Levetsow, Cornelia %A Liu, Zhenyi %A Lutz, Rebekka %A Lynch, Jeremy A %A da Fonseca, Rodrigo Nunes %A Posnien, Nico %A Reuter, Rolf %A Roth, Siegfried %A Savard, Joël %A Schinko, Johannes B %A Schmitt, Christian %A Schoppmeier, Michael %A Schröder, Reinhard %A Shippy, Teresa D %A Simonnet, Franck %A Marques-Souza, Henrique %A Tautz, Diethard %A Tomoyasu, Yoshinori %A Trauner, Jochen %A Van der Zee, Maurijn %A Vervoort, Michel %A Wittkopp, Nadine %A Wimmer, Ernst A %A Yang, Xiaoyun %A Jones, Andrew K %A Sattelle, David B %A Ebert, Paul R %A Nelson, David %A Scott, Jeffrey G %A Beeman, Richard W %A Muthukrishnan, Subbaratnam %A Kramer, Karl J %A Arakane, Yasuyuki %A Beeman, Richard W %A Zhu, Qingsong %A Hogenkamp, David %A Dixit, Radhika %A Oppert, Brenda %A Jiang, Haobo %A Zou, Zhen %A Marshall, Jeremy %A Elpidina, Elena %A Vinokurov, Konstantin %A Oppert, Cris %A Zou, Zhen %A Evans, Jay %A Lu, Zhiqiang %A Zhao, Picheng %A Sumathipala, Niranji %A Altincicek, Boran %A Vilcinskas, Andreas %A Williams, Michael %A Hultmark, Dan %A Hetru, Charles %A Jiang, Haobo %A Grimmelikhuijzen, Cornelis J P %A Hauser, Frank %A Cazzamali, Giuseppe %A Williamson, Michael %A Park, Yoonseong %A Li, Bin %A Tanaka, Yoshiaki %A Predel, Reinhard %A Neupert, Susanne %A Schachtner, Joachim %A Verleyen, Peter %A Raible, Florian %A Bork, Peer %A Friedrich, Markus %A Walden, Kimberly K O %A Robertson, Hugh M %A Angeli, Sergio %A Forêt, Sylvain %A Bucher, Gregor %A Schuetz, Stefan %A Maleszka, Ryszard %A Wimmer, Ernst A %A Beeman, Richard W %A Lorenzen, Marce %A Tomoyasu, Yoshinori %A Miller, Sherry C %A Grossmann, Daniela %A Bucher, Gregor %K Animals %K Base Composition %K Body Patterning %K Cytochrome P-450 Enzyme System %K DNA Transposable Elements %K Genes, Insect %K Genome, Insect %K Growth and Development %K Humans %K Insecticides %K Neurotransmitter Agents %K Oogenesis %K Phylogeny %K Proteome %K Receptors, G-Protein-Coupled %K Receptors, Odorant %K Repetitive Sequences, Nucleic Acid %K RNA Interference %K Taste %K Telomere %K Tribolium %K Vision, Ocular %X

Tribolium castaneum is a member of the most species-rich eukaryotic order, a powerful model organism for the study of generalized insect development, and an important pest of stored agricultural products. We describe its genome sequence here. This omnivorous beetle has evolved the ability to interact with a diverse chemical environment, as shown by large expansions in odorant and gustatory receptors, as well as P450 and other detoxification enzymes. Development in Tribolium is more representative of other insects than is Drosophila, a fact reflected in gene content and function. For example, Tribolium has retained more ancestral genes involved in cell-cell communication than Drosophila, some being expressed in the growth zone crucial for axial elongation in short-germ development. Systemic RNA interference in T. castaneum functions differently from that in Caenorhabditis elegans, but nevertheless offers similar power for the elucidation of gene function and identification of targets for selective insect control.

%B Nature %V 452 %P 949-55 %8 2008 Apr 24 %G eng %N 7190 %1 https://www.ncbi.nlm.nih.gov/pubmed/18362917?dopt=Abstract %R 10.1038/nature06784 %0 Journal Article %J Science %D 2007 %T Evolutionary and biomedical insights from the rhesus macaque genome. %A Richard A Gibbs %A Jeffrey Rogers %A Katze, Michael G %A Bumgarner, Roger %A Weinstock, George M %A Mardis, Elaine R %A Remington, Karin A %A Strausberg, Robert L %A Venter, J Craig %A Wilson, Richard K %A Batzer, Mark A %A Bustamante, Carlos D %A Eichler, Evan E %A Hahn, Matthew W %A Hardison, Ross C %A Makova, Kateryna D %A Miller, Webb %A Milosavljevic, Aleksandar %A Palermo, Robert E %A Siepel, Adam %A Sikela, James M %A Attaway, Tony %A Bell, Stephanie %A Bernard, Kelly E %A Buhay, Christian J %A Chandrabose, Mimi N %A Dao, Marvin %A Davis, Clay %A Delehaunty, Kimberly D %A Ding, Yan %A Dinh, Huyen H %A Dugan-Rocha, Shannon %A Fulton, Lucinda A %A Gabisi, Ramatu Ayiesha %A Garner, Toni T %A Godfrey, Jennifer %A Hawes, Alicia C %A Hernandez, Judith %A Hines, Sandra %A Holder, Michael %A Hume, Jennifer %A Jhangiani, Shalini N %A Joshi, Vandita %A Ziad Khan %A Kirkness, Ewen F %A Cree, Andrew %A Fowler, R Gerald %A Lee, Sandra %A Lewis, Lora R %A Li, Zhangwan %A Liu, Yih-Shin %A Moore, Stephanie M %A Donna M Muzny %A Nazareth, Lynne V %A Ngo, Dinh Ngoc %A Okwuonu, Geoffrey O %A Pai, Grace %A Parker, David %A Paul, Heidie A %A Pfannkoch, Cynthia %A Pohl, Craig S %A Rogers, Yu-Hui %A Ruiz, San Juana %A Aniko Sabo %A Santibanez, Jireh %A Schneider, Brian W %A Smith, Scott M %A Sodergren, Erica %A Svatek, Amanda F %A Utterback, Teresa R %A Vattathil, Selina %A Warren, Wesley %A White, Courtney Sherell %A Chinwalla, Asif T %A Feng, Yucheng %A Halpern, Aaron L %A Hillier, LaDeana W %A Huang, Xiaoqiu %A Minx, Pat %A Nelson, Joanne O %A Pepin, Kymberlie H %A Xiang Qin %A Sutton, Granger G %A Venter, Eli %A Walenz, Brian P %A Wallis, John W %A Kim C Worley %A Yang, Shiaw-Pyng %A Jones, Steven M %A Marra, Marco A %A Rocchi, Mariano %A Schein, Jacqueline E %A Baertsch, Robert %A Clarke, Laura %A Csuros, Miklos %A Glasscock, Jarret %A R. Alan Harris %A Havlak, Paul %A Jackson, Andrew R %A Jiang, Huaiyang %A Liu, Yue %A Messina, David N %A Shen, Yufeng %A Song, Henry Xing-Zhi %A Wylie, Todd %A Zhang, Lan %A Birney, Ewan %A Han, Kyudong %A Konkel, Miriam K %A Lee, Jungnam %A Smit, Arian F A %A Ullmer, Brygg %A Wang, Hui %A Xing, Jinchuan %A Burhans, Richard %A Cheng, Ze %A Karro, John E %A Ma, Jian %A Raney, Brian %A She, Xinwei %A Cox, Michael J %A Demuth, Jeffery P %A Dumas, Laura J %A Han, Sang-Gook %A Hopkins, Janet %A Karimpour-Fard, Anis %A Kim, Young H %A Pollack, Jonathan R %A Vinar, Tomas %A Addo-Quaye, Charles %A Degenhardt, Jeremiah %A Denby, Alexandra %A Hubisz, Melissa J %A Indap, Amit %A Kosiol, Carolin %A Lahn, Bruce T %A Lawson, Heather A %A Marklein, Alison %A Nielsen, Rasmus %A Vallender, Eric J %A Clark, Andrew G %A Ferguson, Betsy %A Hernandez, Ryan D %A Hirani, Kashif %A Kehrer-Sawatzki, Hildegard %A Kolb, Jessica %A Patil, Shobha %A Pu, Ling-Ling %A Ren, Yanru %A Smith, David Glenn %A David A Wheeler %A Schenck, Ian %A Ball, Edward V %A Rui Chen %A Cooper, David N %A Giardine, Belinda %A Hsu, Fan %A Kent, W James %A Lesk, Arthur %A Nelson, David L %A O'brien, William E %A Prüfer, Kay %A Stenson, Peter D %A Wallace, James C %A Ke, Hui %A Liu, Xiao-Ming %A Wang, Peng %A Xiang, Andy Peng %A Yang, Fan %A Barber, Galt P %A Haussler, David %A Karolchik, Donna %A Kern, Andy D %A Kuhn, Robert M %A Smith, Kayla E %A Zwieg, Ann S %K Animals %K Biomedical Research %K Evolution, Molecular %K Female %K Gene Duplication %K Gene Rearrangement %K Genetic Diseases, Inborn %K Genetic Variation %K Genome %K Humans %K Macaca mulatta %K Male %K Multigene Family %K Mutation %K Pan troglodytes %K Sequence Analysis, DNA %K Species Specificity %X

The rhesus macaque (Macaca mulatta) is an abundant primate species that diverged from the ancestors of Homo sapiens about 25 million years ago. Because they are genetically and physiologically similar to humans, rhesus monkeys are the most widely used nonhuman primate in basic and applied biomedical research. We determined the genome sequence of an Indian-origin Macaca mulatta female and compared the data with chimpanzees and humans to reveal the structure of ancestral primate genomes and to identify evidence for positive selection and lineage-specific expansions and contractions of gene families. A comparison of sequences from individual animals was used to investigate their underlying genetic diversity. The complete description of the macaque genome blueprint enhances the utility of this animal model for biomedical research and improves our understanding of the basic biology of the species.

%B Science %V 316 %P 222-34 %8 2007 Apr 13 %G eng %N 5822 %1 https://www.ncbi.nlm.nih.gov/pubmed/17431167?dopt=Abstract %R 10.1126/science.1139247 %0 Journal Article %J Nature %D 2006 %T The DNA sequence, annotation and analysis of human chromosome 3. %A Donna M Muzny %A Steven E Scherer %A Kaul, Rajinder %A Wang, Jing %A Yu, Jun %A Sudbrak, Ralf %A Buhay, Christian J %A Rui Chen %A Cree, Andrew %A Ding, Yan %A Dugan-Rocha, Shannon %A Gill, Rachel %A Gunaratne, Preethi %A R. Alan Harris %A Hawes, Alicia C %A Hernandez, Judith %A Hodgson, Anne V %A Hume, Jennifer %A Jackson, Andrew %A Ziad Khan %A Kovar-Smith, Christie %A Lewis, Lora R %A Lozado, Ryan J %A Metzker, Michael L %A Milosavljevic, Aleksandar %A Miner, George R %A Morgan, Margaret B %A Nazareth, Lynne V %A Scott, Graham %A Sodergren, Erica %A Song, Xing-Zhi %A Steffen, David %A Wei, Sharon %A David A Wheeler %A Wright, Mathew W %A Kim C Worley %A Yuan, Ye %A Zhang, Zhengdong %A Adams, Charles Q %A Ansari-Lari, M Ali %A Ayele, Mulu %A Brown, Mary J %A Chen, Guan %A Chen, Zhijian %A Clendenning, James %A Clerc-Blankenburg, Kerstin P %A Chen, Runsheng %A Chen, Zhu %A Davis, Clay %A Delgado, Oliver %A Dinh, Huyen H %A Dong, Wei %A Draper, Heather %A Ernst, Stephen %A Fu, Gang %A Gonzalez-Garay, Manuel L %A Garcia, Dawn K %A Gillett, Will %A Gu, Jun %A Hao, Bailin %A Haugen, Eric %A Havlak, Paul %A He, Xin %A Hennig, Steffen %A Hu, Songnian %A Huang, Wei %A Jackson, Laronda R %A Jacob, Leni S %A Kelly, Susan H %A Kube, Michael %A Levy, Ruth %A Li, Zhangwan %A Liu, Bin %A Liu, Jing %A Liu, Wen %A Lu, Jing %A Maheshwari, Manjula %A Nguyen, Bao-Viet %A Okwuonu, Geoffrey O %A Palmeiri, Anthony %A Pasternak, Shiran %A Perez, Lesette M %A Phelps, Karen A %A Plopper, Farah J H %A Qiang, Boqin %A Raymond, Christopher %A Rodriguez, Ruben %A Saenphimmachak, Channakhone %A Santibanez, Jireh %A Shen, Hua %A Shen, Yan %A Subramanian, Sandhya %A Tabor, Paul E %A Verduzco, Daniel %A Waldron, Lenée %A Wang, Jian %A Wang, Jun %A Wang, Qiaoyan %A Williams, Gabrielle A %A Wong, Gane K-S %A Yao, Zhijian %A Zhang, Jingkun %A Zhang, Xiuqing %A Zhao, Guoping %A Zhou, Jianling %A Zhou, Yang %A Nelson, David %A Lehrach, Hans %A Reinhardt, Richard %A Naylor, Susan L %A Yang, Huanming %A Olson, Maynard %A Weinstock, George %A Richard A Gibbs %K Animals %K Base Sequence %K Chromosome Breakage %K Chromosome Inversion %K Chromosomes, Human, Pair 3 %K Contig Mapping %K CpG Islands %K DNA, Complementary %K Evolution, Molecular %K Expressed Sequence Tags %K Human Genome Project %K Humans %K Macaca mulatta %K Molecular Sequence Data %K Pan troglodytes %K Sequence Analysis, DNA %K Synteny %X

After the completion of a draft human genome sequence, the International Human Genome Sequencing Consortium has proceeded to finish and annotate each of the 24 chromosomes comprising the human genome. Here we describe the sequencing and analysis of human chromosome 3, one of the largest human chromosomes. Chromosome 3 comprises just four contigs, one of which currently represents the longest unbroken stretch of finished DNA sequence known so far. The chromosome is remarkable in having the lowest rate of segmental duplication in the genome. It also includes a chemokine receptor gene cluster as well as numerous loci involved in multiple human cancers such as the gene encoding FHIT, which contains the most common constitutive fragile site in the genome, FRA3B. Using genomic sequence from chimpanzee and rhesus macaque, we were able to characterize the breakpoints defining a large pericentric inversion that occurred some time after the split of Homininae from Ponginae, and propose an evolutionary history of the inversion.

%B Nature %V 440 %P 1194-8 %8 2006 Apr 27 %G eng %N 7088 %1 https://www.ncbi.nlm.nih.gov/pubmed/16641997?dopt=Abstract %R 10.1038/nature04728 %0 Journal Article %J Nature %D 2006 %T The finished DNA sequence of human chromosome 12. %A Scherer, Steven E %A Donna M Muzny %A Buhay, Christian J %A Rui Chen %A Cree, Andrew %A Ding, Yan %A Dugan-Rocha, Shannon %A Gill, Rachel %A Gunaratne, Preethi %A R. Alan Harris %A Hawes, Alicia C %A Hernandez, Judith %A Hodgson, Anne V %A Hume, Jennifer %A Jackson, Andrew %A Ziad Khan %A Kovar-Smith, Christie %A Lewis, Lora R %A Lozado, Ryan J %A Metzker, Michael L %A Milosavljevic, Aleksandar %A Miner, George R %A Montgomery, Kate T %A Morgan, Margaret B %A Nazareth, Lynne V %A Scott, Graham %A Sodergren, Erica %A Song, Xing-Zhi %A Steffen, David %A Lovering, Ruth C %A Wheeler, David A %A Worley, Kim C %A Yuan, Yi %A Zhang, Zhengdong %A Adams, Charles Q %A Ansari-Lari, M Ali %A Ayele, Mulu %A Brown, Mary J %A Chen, Guan %A Chen, Zhijian %A Clerc-Blankenburg, Kerstin P %A Davis, Clay %A Delgado, Oliver %A Dinh, Huyen H %A Draper, Heather %A Gonzalez-Garay, Manuel L %A Havlak, Paul %A Jackson, Laronda R %A Jacob, Leni S %A Kelly, Susan H %A Li, Li %A Li, Zhangwan %A Liu, Jing %A Liu, Wen %A Lu, Jing %A Maheshwari, Manjula %A Nguyen, Bao-Viet %A Okwuonu, Geoffrey O %A Pasternak, Shiran %A Perez, Lesette M %A Plopper, Farah J H %A Santibanez, Jireh %A Shen, Hua %A Tabor, Paul E %A Verduzco, Daniel %A Waldron, Lenée %A Wang, Qiaoyan %A Williams, Gabrielle A %A Zhang, Jingkun %A Zhou, Jianling %A Allen, Carlana C %A Amin, Anita G %A Anyalebechi, Vivian %A Bailey, Michael %A Barbaria, Joseph A %A Bimage, Kesha E %A Bryant, Nathaniel P %A Burch, Paula E %A Burkett, Carrie E %A Burrell, Kevin L %A Calderon, Eliana %A Cardenas, Veronica %A Carter, Kelvin %A Casias, Kristal %A Cavazos, Iracema %A Cavazos, Sandra R %A Ceasar, Heather %A Chacko, Joseph %A Chan, Sheryl N %A Chavez, Dean %A Christopoulos, Constantine %A Chu, Joseph %A Cockrell, Raynard %A Cox, Caroline D %A Dang, Michelle %A Dathorne, Stephanie R %A David, Robert %A Davis, Candi Mon'Et %A Davy-Carroll, Latarsha %A Deshazo, Denise R %A Donlin, Jeremy E %A D'Souza, Lisa %A Eaves, Kristy A %A Simons, Rain %A Emery-Cohen, Alexandra J %A Escotto, Michael %A Flagg, Nicole %A Forbes, Lisa D %A Gabisi, Abdul M %A Garza, Melissa %A Hamilton, Cerissa %A Henderson, Nicholas %A Hernandez, Omar %A Hines, Sandra %A Hogues, Marilyn E %A Huang, Mei %A Idlebird, DeVincent G %A Johnson, Rudy %A Jolivet, Angela %A Jones, Sally %A Kagan, Ryan %A King, Laquisha M %A Leal, Belita %A Lebow, Heather %A Lee, Sandra %A LeVan, Jaclyn M %A Lewis, Lakeshia C %A London, Pamela %A Lorensuhewa, Lorna M %A Loulseged, Hermela %A Lovett, Demetria A %A Lucier, Alice %A Lucier, Raymond L %A Ma, Jie %A Madu, Renita C %A Mapua, Patricia %A Martindale, Ashley D %A Martinez, Evangelina %A Massey, Elizabeth %A Mawhiney, Samantha %A Meador, Michael G %A Mendez, Sylvia %A Mercado, Christian %A Mercado, Iracema C %A Merritt, Christina E %A Miner, Zachary L %A Minja, Emmanuel %A Mitchell, Teresa %A Mohabbat, Farida %A Mohabbat, Khatera %A Montgomery, Baize %A Moore, Niki %A Morris, Sidney %A Munidasa, Mala %A Ngo, Robin N %A Nguyen, Ngoc B %A Nickerson, Elizabeth %A Nwaokelemeh, Ogechi O %A Nwokenkwo, Stanley %A Obregon, Melissa %A Oguh, Maryann %A Oragunye, Njideka %A Oviedo, Rodolfo J %A Parish, Bridgette J %A Parker, David N %A Parrish, Julia %A Parks, Kenya L %A Paul, Heidie A %A Payton, Brett A %A Perez, Agapito %A Perrin, William %A Pickens, Adam %A Primus, Eltrick L %A Pu, Ling-Ling %A Puazo, Maria %A Quiles, Miyo M %A Quiroz, Juana B %A Rabata, Dina %A Reeves, Kacy %A Ruiz, San Juana %A Shao, Hongmei %A Sisson, Ida %A Sonaike, Titilola %A Sorelle, Richard P %A Sutton, Angelica E %A Svatek, Amanda F %A Svetz, Leah Anne %A Tamerisa, Kavitha S %A Taylor, Tineace R %A Teague, Brian %A Thomas, Nicole %A Thorn, Rachel D %A Trejos, Zulma Y %A Trevino, Brenda K %A Ukegbu, Ogechi N %A Urban, Jeremy B %A Vasquez, Lydia I %A Vera, Virginia A %A Villasana, Donna M %A Wang, Ling %A Ward-Moore, Stephanie %A Warren, James T %A Wei, Xuehong %A White, Flower %A Williamson, Angela L %A Wleczyk, Regina %A Wooden, Hailey S %A Wooden, Steven H %A Yen, Jennifer %A Yoon, Lillienne %A Yoon, Vivienne %A Zorrilla, Sara E %A Nelson, David %A Kucherlapati, Raju %A Weinstock, George %A Richard A Gibbs %K Animals %K Base Composition %K Chromosomes, Human, Pair 12 %K CpG Islands %K Evolution, Molecular %K Expressed Sequence Tags %K Genes %K Humans %K Linkage Disequilibrium %K Microsatellite Repeats %K Molecular Sequence Data %K Mutagenesis, Insertional %K Pan troglodytes %K Sequence Analysis, DNA %K Sequence Deletion %K Short Interspersed Nucleotide Elements %K Synteny %X

Human chromosome 12 contains more than 1,400 coding genes and 487 loci that have been directly implicated in human disease. The q arm of chromosome 12 contains one of the largest blocks of linkage disequilibrium found in the human genome. Here we present the finished sequence of human chromosome 12, which has been finished to high quality and spans approximately 132 megabases, representing approximately 4.5% of the human genome. Alignment of the human chromosome 12 sequence across vertebrates reveals the origin of individual segments in chicken, and a unique history of rearrangement through rodent and primate lineages. The rate of base substitutions in recent evolutionary history shows an overall slowing in hominids compared with primates and rodents.

%B Nature %V 440 %P 346-51 %8 2006 Mar 16 %G eng %N 7082 %1 https://www.ncbi.nlm.nih.gov/pubmed/16541075?dopt=Abstract %R 10.1038/nature04569 %0 Journal Article %J Science %D 2006 %T The genome of the sea urchin Strongylocentrotus purpuratus. %A Sodergren, Erica %A Weinstock, George M %A Davidson, Eric H %A Cameron, R Andrew %A Gibbs, Richard A %A Angerer, Robert C %A Angerer, Lynne M %A Arnone, Maria Ina %A Burgess, David R %A Burke, Robert D %A Coffman, James A %A Dean, Michael %A Elphick, Maurice R %A Ettensohn, Charles A %A Foltz, Kathy R %A Hamdoun, Amro %A Hynes, Richard O %A Klein, William H %A Marzluff, William %A McClay, David R %A Morris, Robert L %A Mushegian, Arcady %A Rast, Jonathan P %A Smith, L Courtney %A Thorndyke, Michael C %A Vacquier, Victor D %A Wessel, Gary M %A Wray, Greg %A Zhang, Lan %A Elsik, Christine G %A Ermolaeva, Olga %A Hlavina, Wratko %A Hofmann, Gretchen %A Kitts, Paul %A Landrum, Melissa J %A Mackey, Aaron J %A Maglott, Donna %A Panopoulou, Georgia %A Poustka, Albert J %A Pruitt, Kim %A Sapojnikov, Victor %A Song, Xingzhi %A Souvorov, Alexandre %A Solovyev, Victor %A Wei, Zheng %A Whittaker, Charles A %A Worley, Kim %A Durbin, K James %A Shen, Yufeng %A Fedrigo, Olivier %A Garfield, David %A Haygood, Ralph %A Primus, Alexander %A Satija, Rahul %A Severson, Tonya %A Gonzalez-Garay, Manuel L %A Jackson, Andrew R %A Milosavljevic, Aleksandar %A Tong, Mark %A Killian, Christopher E %A Livingston, Brian T %A Wilt, Fred H %A Adams, Nikki %A Bellé, Robert %A Carbonneau, Seth %A Cheung, Rocky %A Cormier, Patrick %A Cosson, Bertrand %A Croce, Jenifer %A Fernandez-Guerra, Antonio %A Genevière, Anne-Marie %A Goel, Manisha %A Kelkar, Hemant %A Morales, Julia %A Mulner-Lorillon, Odile %A Robertson, Anthony J %A Goldstone, Jared V %A Cole, Bryan %A Epel, David %A Gold, Bert %A Hahn, Mark E %A Howard-Ashby, Meredith %A Scally, Mark %A Stegeman, John J %A Allgood, Erin L %A Cool, Jonah %A Judkins, Kyle M %A McCafferty, Shawn S %A Musante, Ashlan M %A Obar, Robert A %A Rawson, Amanda P %A Rossetti, Blair J %A Gibbons, Ian R %A Hoffman, Matthew P %A Leone, Andrew %A Istrail, Sorin %A Materna, Stefan C %A Samanta, Manoj P %A Stolc, Viktor %A Tongprasit, Waraporn %A Tu, Qiang %A Bergeron, Karl-Frederik %A Brandhorst, Bruce P %A Whittle, James %A Berney, Kevin %A Bottjer, David J %A Calestani, Cristina %A Peterson, Kevin %A Chow, Elly %A Yuan, Qiu Autumn %A Elhaik, Eran %A Graur, Dan %A Reese, Justin T %A Bosdet, Ian %A Heesun, Shin %A Marra, Marco A %A Schein, Jacqueline %A Anderson, Michele K %A Brockton, Virginia %A Buckley, Katherine M %A Cohen, Avis H %A Fugmann, Sebastian D %A Hibino, Taku %A Loza-Coll, Mariano %A Majeske, Audrey J %A Messier, Cynthia %A Nair, Sham V %A Pancer, Zeev %A Terwilliger, David P %A Agca, Cavit %A Arboleda, Enrique %A Chen, Nansheng %A Churcher, Allison M %A Hallböök, F %A Humphrey, Glen W %A Idris, Mohammed M %A Kiyama, Takae %A Liang, Shuguang %A Mellott, Dan %A Mu, Xiuqian %A Murray, Greg %A Olinski, Robert P %A Raible, Florian %A Rowe, Matthew %A Taylor, John S %A Tessmar-Raible, Kristin %A Wang, D %A Wilson, Karen H %A Yaguchi, Shunsuke %A Gaasterland, Terry %A Galindo, Blanca E %A Gunaratne, Herath J %A Juliano, Celina %A Kinukawa, Masashi %A Moy, Gary W %A Neill, Anna T %A Nomura, Mamoru %A Raisch, Michael %A Reade, Anna %A Roux, Michelle M %A Song, Jia L %A Su, Yi-Hsien %A Townley, Ian K %A Voronina, Ekaterina %A Wong, Julian L %A Amore, Gabriele %A Branno, Margherita %A Brown, Euan R %A Cavalieri, Vincenzo %A Duboc, Véronique %A Duloquin, Louise %A Flytzanis, Constantin %A Gache, Christian %A Lapraz, François %A Lepage, Thierry %A Locascio, Annamaria %A Martinez, Pedro %A Matassi, Giorgio %A Matranga, Valeria %A Range, Ryan %A Rizzo, Francesca %A Röttinger, Eric %A Beane, Wendy %A Bradham, Cynthia %A Byrum, Christine %A Glenn, Tom %A Hussain, Sofia %A Manning, Gerard %A Miranda, Esther %A Thomason, Rebecca %A Walton, Katherine %A Wikramanayke, Athula %A Wu, Shu-Yu %A Xu, Ronghui %A Brown, C Titus %A Chen, Lili %A Gray, Rachel F %A Lee, Pei Yun %A Nam, Jongmin %A Oliveri, Paola %A Smith, Joel %A Muzny, Donna %A Bell, Stephanie %A Chacko, Joseph %A Cree, Andrew %A Curry, Stacey %A Davis, Clay %A Dinh, Huyen %A Dugan-Rocha, Shannon %A Fowler, Jerry %A Gill, Rachel %A Hamilton, Cerrissa %A Hernandez, Judith %A Hines, Sandra %A Hume, Jennifer %A Jackson, Laronda %A Jolivet, Angela %A Kovar, Christie %A Lee, Sandra %A Lewis, Lora %A Miner, George %A Morgan, Margaret %A Nazareth, Lynne V %A Okwuonu, Geoffrey %A Parker, David %A Pu, Ling-Ling %A Thorn, Rachel %A Wright, Rita %K Animals %K Calcification, Physiologic %K Cell Adhesion Molecules %K Complement Activation %K Computational Biology %K Embryonic Development %K Evolution, Molecular %K Gene Expression Regulation, Developmental %K Genes %K Genome %K Immunity, Innate %K Immunologic Factors %K Male %K Nervous System Physiological Phenomena %K Proteins %K Sequence Analysis, DNA %K Signal Transduction %K Strongylocentrotus purpuratus %K Transcription Factors %X

We report the sequence and analysis of the 814-megabase genome of the sea urchin Strongylocentrotus purpuratus, a model for developmental and systems biology. The sequencing strategy combined whole-genome shotgun and bacterial artificial chromosome (BAC) sequences. This use of BAC clones, aided by a pooling strategy, overcame difficulties associated with high heterozygosity of the genome. The genome encodes about 23,300 genes, including many previously thought to be vertebrate innovations or known only outside the deuterostomes. This echinoderm genome provides an evolutionary outgroup for the chordates and yields insights into the evolution of deuterostomes.

%B Science %V 314 %P 941-52 %8 2006 Nov 10 %G eng %N 5801 %1 https://www.ncbi.nlm.nih.gov/pubmed/17095691?dopt=Abstract %R 10.1126/science.1133609 %0 Journal Article %J Nature %D 2005 %T The DNA sequence of the human X chromosome. %A Ross, Mark T %A Grafham, Darren V %A Coffey, Alison J %A Scherer, Steven %A McLay, Kirsten %A Muzny, Donna %A Platzer, Matthias %A Howell, Gareth R %A Burrows, Christine %A Bird, Christine P %A Frankish, Adam %A Lovell, Frances L %A Howe, Kevin L %A Ashurst, Jennifer L %A Fulton, Robert S %A Sudbrak, Ralf %A Wen, Gaiping %A Jones, Matthew C %A Hurles, Matthew E %A Andrews, T Daniel %A Scott, Carol E %A Searle, Stephen %A Ramser, Juliane %A Whittaker, Adam %A Deadman, Rebecca %A Carter, Nigel P %A Hunt, Sarah E %A Chen, Rui %A Cree, Andrew %A Gunaratne, Preethi %A Havlak, Paul %A Hodgson, Anne %A Metzker, Michael L %A Richards, Stephen %A Scott, Graham %A Steffen, David %A Sodergren, Erica %A Wheeler, David A %A Worley, Kim C %A Ainscough, Rachael %A Ambrose, Kerrie D %A Ansari-Lari, M Ali %A Aradhya, Swaroop %A Ashwell, Robert I S %A Babbage, Anne K %A Bagguley, Claire L %A Ballabio, Andrea %A Banerjee, Ruby %A Barker, Gary E %A Barlow, Karen F %A Barrett, Ian P %A Bates, Karen N %A Beare, David M %A Beasley, Helen %A Beasley, Oliver %A Beck, Alfred %A Bethel, Graeme %A Blechschmidt, Karin %A Brady, Nicola %A Bray-Allen, Sarah %A Bridgeman, Anne M %A Brown, Andrew J %A Brown, Mary J %A Bonnin, David %A Bruford, Elspeth A %A Buhay, Christian %A Burch, Paula %A Burford, Deborah %A Burgess, Joanne %A Burrill, Wayne %A Burton, John %A Bye, Jackie M %A Carder, Carol %A Carrel, Laura %A Chako, Joseph %A Chapman, Joanne C %A Chavez, Dean %A Chen, Ellson %A Chen, Guan %A Chen, Yuan %A Chen, Zhijian %A Chinault, Craig %A Ciccodicola, Alfredo %A Clark, Sue Y %A Clarke, Graham %A Clee, Chris M %A Clegg, Sheila %A Clerc-Blankenburg, Kerstin %A Clifford, Karen %A Cobley, Vicky %A Cole, Charlotte G %A Conquer, Jen S %A Corby, Nicole %A Connor, Richard E %A David, Robert %A Davies, Joy %A Davis, Clay %A Davis, John %A Delgado, Oliver %A Deshazo, Denise %A Dhami, Pawandeep %A Ding, Yan %A Dinh, Huyen %A Dodsworth, Steve %A Draper, Heather %A Dugan-Rocha, Shannon %A Dunham, Andrew %A Dunn, Matthew %A Durbin, K James %A Dutta, Ireena %A Eades, Tamsin %A Ellwood, Matthew %A Emery-Cohen, Alexandra %A Errington, Helen %A Evans, Kathryn L %A Faulkner, Louisa %A Francis, Fiona %A Frankland, John %A Fraser, Audrey E %A Galgoczy, Petra %A Gilbert, James %A Gill, Rachel %A Glöckner, Gernot %A Gregory, Simon G %A Gribble, Susan %A Griffiths, Coline %A Grocock, Russell %A Gu, Yanghong %A Gwilliam, Rhian %A Hamilton, Cerissa %A Hart, Elizabeth A %A Hawes, Alicia %A Heath, Paul D %A Heitmann, Katja %A Hennig, Steffen %A Hernandez, Judith %A Hinzmann, Bernd %A Ho, Sarah %A Hoffs, Michael %A Howden, Phillip J %A Huckle, Elizabeth J %A Hume, Jennifer %A Hunt, Paul J %A Hunt, Adrienne R %A Isherwood, Judith %A Jacob, Leni %A Johnson, David %A Jones, Sally %A De Jong, Pieter J %A Joseph, Shirin S %A Keenan, Stephen %A Kelly, Susan %A Kershaw, Joanne K %A Khan, Ziad %A Kioschis, Petra %A Klages, Sven %A Knights, Andrew J %A Kosiura, Anna %A Kovar-Smith, Christie %A Laird, Gavin K %A Langford, Cordelia %A Lawlor, Stephanie %A Leversha, Margaret %A Lewis, Lora %A Liu, Wen %A Lloyd, Christine %A Lloyd, David M %A Loulseged, Hermela %A Loveland, Jane E %A Lovell, Jamieson D %A Lozado, Ryan %A Lu, Jing %A Lyne, Rachael %A Ma, Jie %A Maheshwari, Manjula %A Matthews, Lucy H %A McDowall, Jennifer %A McLaren, Stuart %A McMurray, Amanda %A Meidl, Patrick %A Meitinger, Thomas %A Milne, Sarah %A Miner, George %A Mistry, Shailesh L %A Morgan, Margaret %A Morris, Sidney %A Müller, Ines %A Mullikin, James C %A Nguyen, Ngoc %A Nordsiek, Gabriele %A Nyakatura, Gerald %A O'Dell, Christopher N %A Okwuonu, Geoffery %A Palmer, Sophie %A Pandian, Richard %A Parker, David %A Parrish, Julia %A Pasternak, Shiran %A Patel, Dina %A Pearce, Alex V %A Pearson, Danita M %A Pelan, Sarah E %A Perez, Lesette %A Porter, Keith M %A Ramsey, Yvonne %A Reichwald, Kathrin %A Rhodes, Susan %A Ridler, Kerry A %A Schlessinger, David %A Schueler, Mary G %A Sehra, Harminder K %A Shaw-Smith, Charles %A Shen, Hua %A Sheridan, Elizabeth M %A Shownkeen, Ratna %A Skuce, Carl D %A Smith, Michelle L %A Sotheran, Elizabeth C %A Steingruber, Helen E %A Steward, Charles A %A Storey, Roy %A Swann, R Mark %A Swarbreck, David %A Tabor, Paul E %A Taudien, Stefan %A Taylor, Tineace %A Teague, Brian %A Thomas, Karen %A Thorpe, Andrea %A Timms, Kirsten %A Tracey, Alan %A Trevanion, Steve %A Tromans, Anthony C %A d'Urso, Michele %A Verduzco, Daniel %A Villasana, Donna %A Waldron, Lenée %A Wall, Melanie %A Wang, Qiaoyan %A Warren, James %A Warry, Georgina L %A Wei, Xuehong %A West, Anthony %A Whitehead, Siobhan L %A Whiteley, Mathew N %A Wilkinson, Jane E %A Willey, David L %A Williams, Gabrielle %A Williams, Leanne %A Williamson, Angela %A Williamson, Helen %A Wilming, Laurens %A Woodmansey, Rebecca L %A Wray, Paul W %A Yen, Jennifer %A Zhang, Jingkun %A Zhou, Jianling %A Zoghbi, Huda %A Zorilla, Sara %A Buck, David %A Reinhardt, Richard %A Poustka, Annemarie %A Rosenthal, André %A Lehrach, Hans %A Meindl, Alfons %A Minx, Patrick J %A Hillier, LaDeana W %A Willard, Huntington F %A Wilson, Richard K %A Waterston, Robert H %A Rice, Catherine M %A Vaudin, Mark %A Coulson, Alan %A Nelson, David L %A Weinstock, George %A Sulston, John E %A Durbin, Richard %A Hubbard, Tim %A Gibbs, Richard A %A Beck, Stephan %A Rogers, Jane %A Bentley, David R %K Animals %K Antigens, Neoplasm %K Centromere %K Chromosomes, Human, X %K Chromosomes, Human, Y %K Contig Mapping %K Crossing Over, Genetic %K Dosage Compensation, Genetic %K Evolution, Molecular %K Female %K Genetic Linkage %K Genetics, Medical %K Genomics %K Humans %K Male %K Polymorphism, Single Nucleotide %K Repetitive Sequences, Nucleic Acid %K RNA %K Sequence Analysis, DNA %K Sequence Homology, Nucleic Acid %K Testis %X

The human X chromosome has a unique biology that was shaped by its evolution as the sex chromosome shared by males and females. We have determined 99.3% of the euchromatic sequence of the X chromosome. Our analysis illustrates the autosomal origin of the mammalian sex chromosomes, the stepwise process that led to the progressive loss of recombination between X and Y, and the extent of subsequent degradation of the Y chromosome. LINE1 repeat elements cover one-third of the X chromosome, with a distribution that is consistent with their proposed role as way stations in the process of X-chromosome inactivation. We found 1,098 genes in the sequence, of which 99 encode proteins expressed in testis and in various tumour types. A disproportionately high number of mendelian diseases are documented for the X chromosome. Of this number, 168 have been explained by mutations in 113 X-linked genes, which in many cases were characterized with the aid of the DNA sequence.

%B Nature %V 434 %P 325-37 %8 2005 Mar 17 %G eng %N 7031 %1 https://www.ncbi.nlm.nih.gov/pubmed/15772651?dopt=Abstract %R 10.1038/nature03440