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. Metzker; Aleksandar 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

doi:10.1038/nature04569

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 journal › Article › peer-review

42 Scopus citations

Abstract

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 language	English (US)
Pages (from-to)	346-351
Number of pages	6
Journal	Nature
Volume	440
Issue number	7082
DOIs	https://doi.org/10.1038/nature04569
State	Published - Mar 16 2006
Externally published	Yes

ASJC Scopus subject areas

General

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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Scherer, S. E., Muzny, D. M., Buhay, C. J., Chen, R., Cree, A., Ding, Y., Dugan-Rocha, S., Gill, R., Gunaratne, P., Harris, R. A., Hawes, A. C., Hernandez, J., Hodgson, A. V., Hume, J., Jackson, A., Khan, Z. M., Kovar-Smith, C., Lewis, L. R., Lozado, R. J., ... Gibbs, R. A. (2006). The finished DNA sequence of human chromosome 12. Nature, 440(7082), 346-351. https://doi.org/10.1038/nature04569

Scherer, SE, Muzny, DM, Buhay, CJ, Chen, R, Cree, A, Ding, Y, Dugan-Rocha, S, Gill, R, Gunaratne, P, Harris, RA, Hawes, AC, Hernandez, J, Hodgson, AV, Hume, J, Jackson, A, Khan, ZM, Kovar-Smith, C, Lewis, LR, Lozado, RJ, Metzker, ML, Milosavljevic, A, Miner, GR, Montgomery, KT, Morgan, MB, Nazareth, LV, Scott, G, Sodergren, E, Song, XZ, Steffen, D, Lovering, RC, Wheeler, DA, Worley, KC, Yuan, Y, Zhang, Z, Adams, CQ, Ansari-Lari, MA, Ayele, M, Brown, MJ, Chen, G, Chen, Z, Clerc-Blankenburg, KP, Davis, C, Delgado, O, Dinh, HH, Draper, H, Gonzalez-Garay, ML, Havlak, P, Jackson, LR, Jacob, LS, Kelly, SH, Li, L, Li, Z, Liu, J, Liu, W, Lu, J, Maheshwari, M, Nguyen, BV, Okwuonu, GO, Pasternak, S, Perez, LM, Plopper, FJH, Santibanez, J, Shen, H, Tabor, PE, Verduzco, D, Waldron, L, Wang, Q, Williams, GA, Zhang, JK, Zhou, J, Nelson, D, Kucherlapati, R, Weinstock, G & Gibbs, RA 2006, 'The finished DNA sequence of human chromosome 12', Nature, vol. 440, no. 7082, pp. 346-351. https://doi.org/10.1038/nature04569

@article{297a06289ca14c4aa1b6e684bc1d7f1f,

title = "The finished DNA sequence of human chromosome 12",

abstract = "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.",

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

note = "Funding Information: Acknowledgements This work was supported by NIH grants to R.K. and to R.A.G. We acknowledge and thank the genome sequencing community for generating the data sets used in our comparative analysis. We also acknowledge the following members of the HUGO Gene Nomenclature Committee: S. Povey (chair), E. A. Bruford, V. K. Khodiyar, M. J. Lush, K. M. B. Sneddon, T. P. Sneddon, C. C. Talbot Jr and M. W. Wright.",

year = "2006",

month = mar,

day = "16",

doi = "10.1038/nature04569",

language = "English (US)",

volume = "440",

pages = "346--351",

journal = "Nature",

issn = "0028-0836",

publisher = "Nature Publishing Group",

number = "7082",

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T1 - The finished DNA sequence of human chromosome 12

AU - Scherer, Steven E.

AU - Muzny, Donna M.

AU - Buhay, Christian J.

AU - Chen, Rui

AU - Cree, Andrew

AU - Ding, Yan

AU - Dugan-Rocha, Shannon

AU - Gill, Rachel

AU - Gunaratne, Preethi

AU - Harris, R. Alan

AU - Hawes, Alicia C.

AU - Hernandez, Judith

AU - Hodgson, Anne V.

AU - Hume, Jennifer

AU - Jackson, Andrew

AU - Khan, Ziad Mohid

AU - Kovar-Smith, Christie

AU - Lewis, Lora R.

AU - Lozado, Ryan J.

AU - Metzker, Michael L.

AU - Milosavljevic, Aleksandar

AU - Miner, George R.

AU - Montgomery, Kate T.

AU - Morgan, Margaret B.

AU - Nazareth, Lynne V.

AU - Scott, Graham

AU - Sodergren, Erica

AU - Song, Xing Zhi

AU - Steffen, David

AU - Lovering, Ruth C.

AU - Wheeler, David A.

AU - Worley, Kim C.

AU - Yuan, Yi

AU - Zhang, Zhengdong

AU - Adams, Charles Q.

AU - Ansari-Lari, M. Ali

AU - Ayele, Mulu

AU - Brown, Mary J.

AU - Chen, Guan

AU - Chen, Zhijian

AU - Clerc-Blankenburg, Kerstin P.

AU - Davis, Clay

AU - Delgado, Oliver

AU - Dinh, Huyen H.

AU - Draper, Heather

AU - Gonzalez-Garay, Manuel L.

AU - Havlak, Paul

AU - Jackson, Laronda R.

AU - Jacob, Leni S.

AU - Kelly, Susan H.

AU - Li, Li

AU - Li, Zhangwan

AU - Liu, Jing

AU - Liu, Wen

AU - Lu, Jing

AU - Maheshwari, Manjula

AU - Nguyen, Bao Viet

AU - Okwuonu, Geoffrey O.

AU - Pasternak, Shiran

AU - Perez, Lesette M.

AU - Plopper, Farah J.H.

AU - Santibanez, Jireh

AU - Shen, Hua

AU - Tabor, Paul E.

AU - Verduzco, Daniel

AU - Waldron, Lenee

AU - Wang, Qiaoyan

AU - Williams, Gabrielle A.

AU - Zhang, Jing Kun

AU - Zhou, Jianling

AU - Nelson, David

AU - Kucherlapati, Raju

AU - Weinstock, George

AU - Gibbs, Richard A.

N1 - Funding Information: Acknowledgements This work was supported by NIH grants to R.K. and to R.A.G. We acknowledge and thank the genome sequencing community for generating the data sets used in our comparative analysis. We also acknowledge the following members of the HUGO Gene Nomenclature Committee: S. Povey (chair), E. A. Bruford, V. K. Khodiyar, M. J. Lush, K. M. B. Sneddon, T. P. Sneddon, C. C. Talbot Jr and M. W. Wright.

PY - 2006/3/16

Y1 - 2006/3/16

N2 - 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.

AB - 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.

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UR - http://www.scopus.com/inward/citedby.url?scp=33645038598&partnerID=8YFLogxK

U2 - 10.1038/nature04569

DO - 10.1038/nature04569

M3 - Article

C2 - 16541075

AN - SCOPUS:33645038598

SN - 0028-0836

VL - 440

SP - 346

EP - 351

JO - Nature

JF - Nature

IS - 7082

ER -

The finished DNA sequence of human chromosome 12

Abstract

ASJC Scopus subject areas

UN SDGs

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