The finished DNA sequence of human chromosome 12

Steven E. Scherer, Donna M. Muzny, Christian J. Buhay, Rui Chen, Andrew Cree, Yan Ding, Shannon Dugan-Rocha, Rachel Gill, Preethi Gunaratne, R. Alan Harris, Alicia C. Hawes, Judith Hernandez, Anne V. Hodgson, Jennifer Hume, Andrew Jackson, Ziad Mohid Khan, Christie Kovar-Smith, Lora R. Lewis, Ryan J. Lozado, Michael L. MetzkerAleksandar Milosavljevic, George R. Miner, Kate T. Montgomery, Margaret B. Morgan, Lynne V. Nazareth, Graham Scott, Erica Sodergren, Xing Zhi Song, David Steffen, Ruth C. Lovering, David A. Wheeler, Kim C. Worley, Yi Yuan, Zhengdong Zhang, Charles Q. Adams, M. Ali Ansari-Lari, Mulu Ayele, Mary J. Brown, Guan Chen, Zhijian Chen, Kerstin P. Clerc-Blankenburg, Clay Davis, Oliver Delgado, Huyen H. Dinh, Heather Draper, Manuel L. Gonzalez-Garay, Paul Havlak, Laronda R. Jackson, Leni S. Jacob, Susan H. Kelly, Li Li, Zhangwan Li, Jing Liu, Wen Liu, Jing Lu, Manjula Maheshwari, Bao Viet Nguyen, Geoffrey O. Okwuonu, Shiran Pasternak, Lesette M. Perez, Farah J H Plopper, Jireh Santibanez, Hua Shen, Paul E. Tabor, Daniel Verduzco, Lenee Waldron, Qiaoyan Wang, Gabrielle A. Williams, Jing Kun Zhang, Jianling Zhou, David Nelson, Raju Kucherlapati, George Weinstock, Richard A. Gibbs

Research output: Contribution to journalArticlepeer-review

41 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)346-351
Number of pages6
Issue number7082
StatePublished - Mar 16 2006

ASJC Scopus subject areas

  • General


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