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1. DNA sequence and analysis of human chromosome 18

Author

Chad, Nusbaum, Michael C, Zody, Mark L, Borowsky, Michael, Kamal, Chinnappa D, Kodira, Todd D, Taylor, Charles A, Whittaker, Jean L, Chang, Christina A, Cuomo, Ken, Dewar, Michael G, FitzGerald, Xiaoping, Yang, Amr, Abouelleil, Nicole R, Allen, Scott, Anderson, Toby, Bloom, Boris, Bugalter, Jonathan, Butler, April, Cook, David, DeCaprio, Reinhard, Engels, Manuel, Garber, Andreas, Gnirke, Nabil, Hafez, Jennifer L, Hall, Catherine Hosage, Norman, Takehiko, Itoh, David B, Jaffe, Yoko, Kuroki, Jessica, Lehoczky, Annie, Lui, Pendexter, Macdonald, Evan, Mauceli, Tarjei S, Mikkelsen, Jerome W, Naylor, Robert, Nicol, Cindy, Nguyen, Hideki, Noguchi, Sinéad B, O'Leary, Keith, O'Neill, Bruno, Piqani, Cherylyn L, Smith, Jessica A, Talamas, Kerri, Topham, Yasushi, Totoki, Atsushi, Toyoda, Hester M, Wain, Sarah K, Young, Qiandong, Zeng, Andrew R, Zimmer, Asao, Fujiyama, Masahira, Hattori, Bruce W, Birren, Yoshiyuki, Sakaki, and Eric S, Lander

Subjects
Expressed Sequence Tags, Multidisciplinary, Genome, Human, Molecular Sequence Data, DNA, Exons, Sequence Analysis, DNA, Aneuploidy, Synteny, Introns, Genes, Animals, Humans, CpG Islands, Chromosomes, Human, Pair 18, Conserved Sequence
Abstract

Chromosome 18 appears to have the lowest gene density of any human chromosome and is one of only three chromosomes for which trisomic individuals survive to term. There are also a number of genetic disorders stemming from chromosome 18 trisomy and aneuploidy. Here we report the finished sequence and gene annotation of human chromosome 18, which will allow a better understanding of the normal and disease biology of this chromosome. Despite the low density of protein-coding genes on chromosome 18, we find that the proportion of non-protein-coding sequences evolutionarily conserved among mammals is close to the genome-wide average. Extending this analysis to the entire human genome, we find that the density of conserved non-protein-coding sequences is largely uncorrelated with gene density. This has important implications for the nature and roles of non-protein-coding sequence elements.

Published
2005

2. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

Author

James R. Lupski, Xiaohong Liu, Sante Gnerre, Bruce W. Birren, Nicole R. Allen, James G. R. Gilbert, Pawel Stankiewicz, Tashi Lokyitsang, Jane E. Loveland, Amr Abouelleil, John E. Major, Manuel Garber, Steven A. McCarroll, April Cook, Mark L. Borowsky, Annie Lui, David C. Schwartz, Jonathan Butler, Christine Nicholson, Chad Nusbaum, Atanas Mihalev, Laurens G. Wilming, Catherine Hosage Norman, Daniel S. Hagopian, Jessica A. Lehoczky, Robert Nicol, David Swarbreck, Cindy Nguyen, Varsha K. Khodiyar, Ted Sharpe, Gavin K. Laird, Evan Mauceli, Russell J. Grocock, Jane Rogers, S. Searle, Charles Shaw-Smith, Michael C. Zody, Toby Bloom, Boris Bugalter, David B. Jaffe, Pieter J. de Jong, Jean L. Chang, Kazutoyo Osoegawa, Michael Kamal, Sinéad B. O'Leary, Steven A. Goldstein, David J. Adams, Richard Gibson, Jennifer Harrow, Sean Humphray, Chao-Kung Chen, Michael Fitzgerald, Allan Bradley, Ken Dewar, Charles A. Steward, Eric S. Lander, E. Hart, David DeCaprio, Nabil Hafez, Matthew C. Jones, Darren Grafham, Tim Hubbard, Vijay Venkataraman, Jonathan M. Mudge, Charles A. Whittaker, Kurt LaButti, Andrew Zimmer, Christina A. Cuomo, Xiaoping Yang, Benjamin Corum, Sarah Young, Pendexter Macdonald, Lucy Matthews, and Weimin Bi

Subjects
Genetics, Base Composition, Multidisciplinary, Sequence Analysis, DNA, Biology, Synteny, Article, Chromosome 17 (human), Evolution, Molecular, Mice, Chromosome 4, Chromosome 16, Long Interspersed Nucleotide Elements, Chromosome 19, Gene Duplication, Animals, Humans, Chromosome 21, Chromosome 22, Chromosomal inversion, Segmental duplication, Chromosomes, Human, Pair 17, Short Interspersed Nucleotide Elements
Abstract

Chromosome 17 is unusual among the human chromosomes in many respects. It is the largest human autosome with orthology to only a single mouse chromosome1, mapping entirely to the distal half of mouse chromosome 11. Chromosome 17 is rich in protein-coding genes, having the second highest gene density in the genome2,3. It is also enriched in segmental duplications, ranking third in density among the autosomes4. Here we report a finished sequence for human chromosome 17, as well as a structural comparison with the finished sequence for mouse chromosome 11, the first finished mouse chromosome. Comparison of the orthologous regions reveals striking differences. In contrast to the typical pattern seen in mammalian evolution5,6, the human sequence has undergone extensive intrachromosomal rearrangement, whereas the mouse sequence has been remarkably stable. Moreover, although the human sequence has a high density of segmental duplication, the mouse sequence has a very low density. Notably, these segmental duplications correspond closely to the sites of structural rearrangement, demonstrating a link between duplication and rearrangement. Examination of the main classes of duplicated segments provides insight into the dynamics underlying expansion of chromosome-specific, low-copy repeats in the human genome.

Published
2006

3. Genome sequence, comparative analysis and haplotype structure of the domestic dog

Author

Tsering Wangchuk, Mayank Kumar, Sharon Stavropoulos, James Cuff, Mostafa Benamara, David DeCaprio, Birhane Hagos, Nathaniel Novod, Tashi Lokyitsang, Nyima Norbu, Jennifer Baldwin, Sabrina M. Stone, Catherine Stone, Geneva Young, Osebhajajeme Egbiremolen, Dawa Thoulutsang, Tanya Mihova, Lisa Kim, Julie Sahalie, Jan Macdonald, Amr Abouelleil, Toby Bloom, Yama Cheshatsang, Carolyne Bardeleben, Qing Yu, Berta Blitshteyn, Tuyen T. Nguyen, Tarjei S. Mikkelsen, Edward Grandbois, Claire M. Wade, John E. Major, Filip Rege, Cindy Nguyen, Andrew Barry, Tracey Honan, Pablo Alvarez, Andy Vo, Manuel Garber, Cristyn Kells, Rachel Mittelman, Lucien Oyono, Norbu Dhargay, Sean M. Sykes, Diallo Ferguson, Tyler Aldredge, Tenchoe Nyima, Todd Sparrow, Daniel S. Hagopian, Christophe Hitte, Andreas Heger, Jane E. Wilkinson, Verneda Ray, Peter Rogov, Ewen F. Kirkness, Jill Falk, Robert Nicol, Christopher Patti, Danielle Perrin, Ted Sharpe, Douglas Smith, Peter Olandt, Matthew Breen, Ali Aslam, Cherylyn Smith, Tara Biagi, Diane Gage, Jean L. Chang, Karen Hughes Miller, Valentine Mlenga, Andrea Horn, Jessie Sloan, Claire M. Healy, Adam Wilson, Ngawang Sherpa, Riza M. Daza, David B. Jaffe, Leonid Boguslavskiy, Jody Camarata, Peter Kisner, William H. Lee, Kunsang Dorjee, M. Husby, Sante Gnerre, Kunsang Gyaltsen, Asha Kamat, Jonathan Butler, Terrance Shea, Alicia Franke, Patrick Cooke, Rayale Rameau, Andrew Zimmer, Gary Gearin, Nabil Hafez, Kerri Topham, Kebede Maru, Chris P. Ponting, Jerome Naylor, Yama Thoulutsang, Keith O'Neill, Jinlei Liu, Manolis Kellis, Claude Bonnet, Claudel Antoine, Passang Dorje, Adal Abebe, Tsamla Tsamla, Michael Kleber, Michael Weiand, Audra Goyette, Rachael Thomas, Lisa Zembek, Atanas Mihalev, Daniel Bessette, Helen Vassiliev, Pasang Bachantsang, Adam Navidi, Kathleen Dooley, Caleb Webber, Pierre Tchuinga, Tashi Bayul, Michael Kamal, Heidi G. Parker, Ben Kanga, Kimberly Dooley, Nadia Calixte, Mostafa Ait-zahra, Niall J. Lennon, Ira Topping, Eric S. Lander, Pieter J. deJong, Nicole R. Allen, Peter An, Boris Boukhgalter, Richard Elong, Thomas E. Landers, Anthony Rachupka, Michael Fitzgerald, Lisa Leuper, William Brockman, Marcia Lara, Susan Faro, Elaine A. Ostrander, Joanne Zainoun, Leigh Anne Hunnicutt, Mark J. Daly, Leanne Hughes, April Cook, Patrick Cahill, Sujaa Raghuraman, Manfred Grabherr, Robert K. Wayne, Adam Brown, Xiaohong Liu, Charles Matthews, Scott Anderson, Margaret Priest, Shailendra Yadav, Evan Mauceli, Kerstin Lindblad-Toh, Patricia Ferreira, Yeshi Lokyitsang, Harindra Arachchi, Alexandre Melnikov, Christina Raymond, James Meldrim, Dmitry Khazanovich, Mieke Citroen, Aaron M. Berlin, Alix Chinh Kieu, John Stalker, Francis Galibert, Noah Duffey, Krista Lance, Louis Meneus, Jennifer Ruth Sadler Hall, Choe Norbu, Pema Tenzing, Richard Marabella, Chee-Wye Chin, Karen Foley, Xiaoping Yang, Nga Nguyen, Tenzin Dawoe, Ryan Hegarty, Julie Rogers, Joseph Graham, Chelsea D. Foley, Leonidas Mulrain, Tsering Wangdi, Karin Decktor, Sarah LeVine, Shuli Yang, Dennis C. Friedrich, Tina Goode, Cecil Rise, Teena Mehta, Laura Ayotte, Michele Clamp, Nicole Stange-Thomann, Annie Lui, Edward J. Kulbokas, Pema Phunkhang, Alan Dupes, Elinor K. Karlsson, Lynne Aftuck, Sahal Osman, Abderrahim Farina, Barry O'Neill, Diana M. Shih, Xiaohui Xie, Lester Dorris, Vijay Venkataraman, Benjamin Jester, Sampath Settipalli, Thu Nguyen, Alville Collymore, Klaus-Peter Koepfli, Senait Tesfaye, Nathan Houde, Susan McDonough, Leo Goodstadt, Glen Munson, Georgia Giannoukos, Jeffrey Chu, Nathan B. Sutter, Sheila A. Fisher, Charlien Jones, Michael C. Zody, Jianying Shi, John P. Pollinger, Mechele Sheehan, Stephen M. J. Searle, Fritz Pierre, Jason Blye, Jean-Pierre Leger, and Stuart DeGray

Subjects
Male, Genomics, Single-nucleotide polymorphism, Biology, Genome, Polymorphism, Single Nucleotide, Synteny, Conserved sequence, Evolution, Molecular, Mice, Dogs, Molecular evolution, Animals, Humans, Dog Diseases, Conserved Sequence, Short Interspersed Nucleotide Elements, Genetics, Whole genome sequencing, Multidisciplinary, Dog leukocyte antigen, Haplotype, Rats, Haplotypes, Mutagenesis, biology.protein, Hybridization, Genetic, Female
Abstract

Here we report a high-quality draft genome sequence of the domestic dog (Canis familiaris), together with a dense map of single nucleotide polymorphisms (SNPs) across breeds. The dog is of particular interest because it provides important evolutionary information and because existing breeds show great phenotypic diversity for morphological, physiological and behavioural traits. We use sequence comparison with the primate and rodent lineages to shed light on the structure and evolution of genomes and genes. Notably, the majority of the most highly conserved non-coding sequences in mammalian genomes are clustered near a small subset of genes with important roles in development. Analysis of SNPs reveals long-range haplotypes across the entire dog genome, and defines the nature of genetic diversity within and across breeds. The current SNP map now makes it possible for genome-wide association studies to identify genes responsible for diseases and traits, with important consequences for human and companion animal health.

Published
2005

4. DNA sequence and analysis of human chromosome 8

Author

Chad Nusbaum, Tarjei S. Mikkelsen, Michael C. Zody, Shuichi Asakawa, Stefan Taudien, Manuel Garber, Chinnappa D. Kodira, Mary G. Schueler, Atsushi Shimizu, Charles A. Whittaker, Jean L. Chang, Christina A. Cuomo, Ken Dewar, Michael G. FitzGerald, Xiaoping Yang, Nicole R. Allen, Scott Anderson, Teruyo Asakawa, Karin Blechschmidt, Toby Bloom, Mark L. Borowsky, Jonathan Butler, April Cook, Benjamin Corum, Kurt DeArellano, David DeCaprio, Kathleen T. Dooley, Lester Dorris, Reinhard Engels, Gernot Glöckner, Nabil Hafez, Daniel S. Hagopian, Jennifer L. Hall, Sabine K. Ishikawa, David B. Jaffe, Asha Kamat, Jun Kudoh, Rüdiger Lehmann, Tashi Lokitsang, Pendexter Macdonald, John E. Major, Charles D. Matthews, Evan Mauceli, Uwe Menzel, Atanas H. Mihalev, Shinsei Minoshima, Yuji Murayama, Jerome W. Naylor, Robert Nicol, Cindy Nguyen, Sinéad B. O'Leary, Keith O'Neill, Stephen C. J. Parker, Andreas Polley, Christina K. Raymond, Kathrin Reichwald, Joseph Rodriguez, Takashi Sasaki, Markus Schilhabel, Roman Siddiqui, Cherylyn L Smith, Tam P. Sneddon, Jessica A. Talamas, Pema Tenzin, Kerri Topham, Vijay Venkataraman, Gaiping Wen, Satoru Yamazaki, Sarah K. Young, Qiandong Zeng, Andrew R. Zimmer, Andre Rosenthal, Bruce W. Birren, Matthias Platzer, Nobuyoshi Shimizu, and Eric S. Lander

Subjects
Male, Multidisciplinary, Molecular Sequence Data, Sequence Analysis, DNA, DNA, Satellite, Immunity, Innate, Defensins, Euchromatin, Evolution, Molecular, Contig Mapping, Multigene Family, Animals, Humans, Female, Chromosomes, Human, Pair 8
Abstract

The International Human Genome Sequencing Consortium (IHGSC) recently completed a sequence of the human genome. As part of this project, we have focused on chromosome 8. Although some chromosomes exhibit extreme characteristics in terms of length, gene content, repeat content and fraction segmentally duplicated, chromosome 8 is distinctly typical in character, being very close to the genome median in each of these aspects. This work describes a finished sequence and gene catalogue for the chromosome, which represents just over 5% of the euchromatic human genome. A unique feature of the chromosome is a vast region of approximately 15 megabases on distal 8p that appears to have a strikingly high mutation rate, which has accelerated in the hominids relative to other sequenced mammals. This fast-evolving region contains a number of genes related to innate immunity and the nervous system, including loci that appear to be under positive selection--these include the major defensin (DEF) gene cluster and MCPH1, a gene that may have contributed to the evolution of expanded brain size in the great apes. The data from chromosome 8 should allow a better understanding of both normal and disease biology and genome evolution.

Published
2005

5. Erratum: Corrigendum: DNA sequence and analysis of human chromosome 18

Author

Michael Fitzgerald, Amr Abouelleil, Bruce W. Birren, Andreas Gnirke, Takehiko Itoh, Cindy Nguyen, Yasushi Totoki, Annie Lui, Chinnappa D. Kodira, Chad Nusbaum, Michael C. Zody, Cherylyn Smith, Christina A. Cuomo, Yoshiyuki Sakaki, David DeCaprio, H Wain, Jessica A. Talamas, Bruno Piqani, Mark L. Borowsky, Manuel Garber, Qiandong Zeng, Jonathan Butler, Masahira Hattori, Charles Whittaker, Scott F. Anderson, David B. Jaffe, Atsushi Toyoda, Boris Bugalter, Ken Dewar, April Cook, Asao Fujiyama, Robert Nicol, Kerri Topham, Jerome Naylor, Catherine Hosage Norman, Tarjei S. Mikkelsen, Hideki Noguchi, Sinéad B. O'Leary, Reinhard Engels, Andrew Zimmer, Keith O'Neill, Nabil Hafez, Jean L. Chang, Toby Bloom, Sarah Young, Jennifer L. Hall, Evan Mauceli, Michael Kamal, Pendexter Macdonald, Yoko Kuroki, Xiaoping Yang, Eric S. Lander, Jessica A. Lehoczky, Nicole R. Allen, and Todd D. Taylor

Subjects
Genetics, Multidisciplinary, Chromosome 18, Biology, DNA sequencing
Abstract

Nature 437, 551–555 (2005) doi:10.1038/nature03983 The name of Keith O'Neill was accidentally omitted from the published author list. He is at the first affiliation in the address list.

Published
2005

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