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The finished DNA sequence of human chromosome 12

2006; Nature Portfolio; Volume: 440; Issue: 7082 Linguagem: Inglês

10.1038/nature04569

1476-4687

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

Genomic variations and chromosomal abnormalities

Nature's series of papers on the finished sequences of human chromosomes continues with the analysis of chromosome 12, representing 4.5 of the genome. It hosts a number of genes mutated in specific cancers, movement disorders and, potentially, Alzheimer's disease. An analysis of the finished sequence of human chromosome 12 representing 4.5% of the human genome determines that chromosome 12 hosts a number of genes mutated in specific cancers, as well as movement disorders and potentially Alzheimer's disease. Human chromosome 12 contains more than 1,400 coding genes1 and 487 loci that have been directly implicated in human disease2. The q arm of chromosome 12 contains one of the largest blocks of linkage disequilibrium found in the human genome3. Here we present the finished sequence of human chromosome 12, which has been finished to high quality and spans approximately 132 megabases, representing ∼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.