The finished DNA sequence of human chromosome 12

Nature

Volumn 440, Issue 7082, 2006, Pages 346-351

  Scherer, Steven E ^a   Muzny, Donna M ^a   Buhay, Christian J ^a   Chen, Rui ^a   Cree, Andrew ^a   Ding, Yan ^a   Dugan Rocha, Shannon ^a   Gill, Rachel ^a   Gunaratne, Preethi ^a   Harris, R Alan ^a   Hawes, Alicia C ^a   Hernandez, Judith ^a   Hodgson, Anne V ^a   Hume, Jennifer ^a   Jackson, Andrew ^a   Khan, Ziad Mohid ^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 ^b   Morgan, Margaret B ^a   Nazareth, Lynne V ^a   Scott, Graham ^a   Sodergren, Erica ^a   Song, Xing Zhi ^a   Steffen, David ^a   Lovering, Ruth C ^c   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 ^b   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, Lenee ^a   Wang, Qiaoyan ^a   Williams, Gabrielle A ^a   Zhang, JingKun ^a   Zhou, Jianling ^a   Nelson, David ^a   Kucherlapati, Raju ^b   Weinstock, George ^a   Gibbs, Richard A ^a   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b LABORATORY FOR MOLECULAR MEDICINE   (United States)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL CULTURE; CHROMOSOMES; DISEASES; GENES;

HOMINIDS; LINKAGE DISEQUILIBRIUM;

DNA;

CHROMOSOME;

AMINO ACID SUBSTITUTION; ARTICLE; CHICKEN; CHROMOSOME 12; COMPARATIVE STUDY; CPG ISLAND; DNA SEQUENCE; GENE REARRANGEMENT; GENETIC LINKAGE; GENOME ANALYSIS; HOMINID; HUMAN; NONHUMAN; PRIMATE; PRIORITY JOURNAL; QUALITATIVE ANALYSIS; RODENT; SEQUENCE ANALYSIS; VERTEBRATE;

ANIMALIA; HOMINIDAE; PRIMATES; RODENTIA; VERTEBRATA;

EID: 33645038598     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature04569     Document Type: Article

References (31)

1. Pruitt, K. D., Tatusova, T. & Maglott, D. R. NCBI Reference Sequence (RefSeq): A curated non-redundant sequence database of genomes, transcripts and proteins. Nucleic Acids Res. 33, D501-D504 (2005).
2. Online Mendelian Inheritance in Man (OMIM). McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, Maryland) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, Maryland) 〈http://www.ncbi.nlm.nih.gov/omim/〉 (2000).
3. Yu, F. et al. Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. PLoS Genet. 1, e41 (2005).
4. Montgomery, K. T. et al. A high-resolution map of human chromosome 12. Nature 409, 945-946 (2001).
5. McPherson, J. D. et al. A physical map of the human genome. Nature 409, 934-941 (2001).
6. Schmutz, J. et al. Quality assessment of the human genome sequence. Nature 429, 365-368 (2004).
7. Knight, S. J. et al. An optimized set of human telomere clones for studying telomere integrity and architecture. Am. J. Hum. Genet. 67, 320-332 (2000).
8. Vermeesch, J. R. et al. A physical map of the chromosome 12 centromere. Cytogenet. Genome Res. 103, 63-73 (2003).
9. Curwen, V. et al. The Ensembl automatic gene annotation system. Genome Res. 14, 942-950 (2004).
10. Yu, A. et al. Comparison of human genetic and sequence-based physical maps. Nature 409, 951-953 (2001).
11. Wienberg, J. Fluorescence in situ hybridization to chromosomes as a tool to understand human and primate genome evolution. Cytogenet. Genome Res. 108, 139-160 (2005).
12. Nickerson, E. & Nelson, D. L. Molecular definition of pericentric inversion breakpoints occurring during the evolution of humans and chimpanzees. Genomics 50, 368-372 (1998).
13. Kehrer-Sawatzki, H., Sandig, C. A., Goidts, V. & Hameister, H. Breakpoint analysis of the pericentric inversion between chimpanzee chromosome 10 and the homologous chromosome 12 in humans. Cytogenet. Genome Res. 108, 91-97 (2005).
14. Rat Genome Sequencing Project Consortium. Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature 428, 493-521 (2004).
15. Mouse Genome Sequencing Consortium. Initial sequencing and comparative analysis of the mouse genome. Nature 420, 520-562 (2002).
16. Li, W. H. & Tanimura, M. The molecular clock runs more slowly in man than in apes and monkeys. Nature 326, 93-96 (1987).
17. Steiper, M. E., Young, N. M. & Sukarna, T. Y. Genomic data support the hominoid slowdown and an Early Oligocene estimate for the hominoidcercopithecoid divergence. Proc. Natl. Acad. Sci. USA 101, 17021-17026 (2004).
18. Yi, S., Ellsworth, D. L. & Li, W. H. Slow molecular clocks in Old World monkeys, apes, and humans. Mol. Biol. Evol. 19, 2191-2198 (2002).
19. Kent, W. J., Baertsch, R., Hinrichs, A., Miller, W. & Haussler, D. Evolution's cauldron: Duplication, deletion, and rearrangement in the mouse and human genomes. Proc. Natl Acad. Sci. USA 100, 11484-11489 (2003).
20. Bailey, J. A., Yavor, A. M., Massa, H. F., Trask, B. J. & Eichler, E. E. Segmental duplications: Organization and impact within the current human genome project assembly. Genome Res. 11, 1005-1017 (2001).
21. Hedges, D. J. et al. Differential Alu mobilization and polymorphism among the human and chimpanzee lineages. Genome Res. 14, 1068-1075 (2004).
22. Liu, G. et al. Analysis of primate genomic variation reveals a repeat-driven expansion of the human genome. Genome Res. 13, 358-368 (2003).
23. Stegmaier, K. et al. Frequent loss of heterozygosity at the TEL gene locus in acute lymphoblastic leukemia of childhood. Blood 86, 38-44 (1995).
24. Ansari-Lari, M. A. et al. A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13. Genome Res. 6, 314-326 (1996).
25. Li, Y. et al. Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family. Proc. Natl Acad. Sci. USA 101, 15688-15693 (2004).
26. Zhang, Z., Harrison, P. M., Liu, Y. & Gerstein, M. Millions of years of evolution preserved: A comprehensive catalog of the processed pseudogenes in the human genome. Genome Res. 13, 2541-2558 (2003).
27. Hsu, F. et al. The UCSC Proteome Browser. Nucleic Acids Res. 33 (suppl. 1), D454-D458 (2005).
28. Kalafus, K. J., Jackson, A. R. & Milosavljevic, A. Pash: Efficient genome-scale sequence anchoring by Positional Hashing. Genome Res. 14, 672-678 (2004).
29. Brudno, M. et al. LAGAN and Multi-LAGAN: Efficient tools for large-scale multiple alignment of genomic DNA. Genome Res. 13, 721-731 (2003).
30. Bourque, G., Zdobnov, E. M., Bork, P., Pevzner, P. A. & Tesler, G. Comparative architectures of mammalian and chicken genomes reveal highly variable rates of genomic rearrangements across different lineages. Genome Res. 15, 98-110 (2005).
31. Elango, N., Thomas, J. W., NISC Comparative Sequencing Program & Soojin, V. Y. Variable molecular clocks in hominoids. Proc. Natl Acad. Sci. USA 103, 1370-1375 (2006).