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1. Large Multiple Organism Gene Finding by Collapsed Gibbs Sampling

Author

Lior Pachter and Sourav Chatterji

Subjects
Sequence analysis, Gene prediction, Computational biology, Biology, Sensitivity and Specificity, Mice, symbols.namesake, Sequence Analysis, Protein, Genetics, Animals, Humans, Molecular Biology, Gene, Organism, Models, Genetic, Proteins, Exons, Genomics, Genome project, Markov Chains, Rats, Computational Mathematics, Computational Theory and Mathematics, Modeling and Simulation, symbols, Pairwise comparison, Sequence Alignment, Algorithms, Gibbs sampling
Abstract

The Gibbs sampling method has been widely used for sequence analysis after it was successfully applied to the problem of identifying regulatory motif sequences upstream of genes. Since then, numerous variants of the original idea have emerged: however, in all cases the application has been to finding short motifs in collections of short sequences (typically less than 100 nucleotides long). In this paper, we introduce a Gibbs sampling approach for identifying genes in multiple large genomic sequences up to hundreds of kilobases long. This approach leverages the evolutionary relationships between the sequences to improve the gene predictions, without explicitly aligning the sequences. We have applied our method to the analysis of genomic sequence from 14 genomic regions, totaling roughly 1.8 Mb of sequence in each organism. We show that our approach compares favorably with existing ab initio approaches to gene finding, including pairwise comparison based gene prediction methods which make explicit use of alignments. Furthermore, excellent performance can be obtained with as little as four organisms, and the method overcomes a number of difficulties of previous comparison based gene finding approaches: it is robust with respect to genomic rearrangements, can work with draft sequence, and is fast (linear in the number and length of the sequences). It can also be seamlessly integrated with Gibbs sampling motif detection methods.

Published
2005
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2. Accounting for alignment uncertainty in phylogenomics

Author

Jonathan A. Eisen, Sourav Chatterji, Martin Wu, and Salemi, Marco

Subjects
Masking (art), Evolution, General Science & Technology, Science, Sequence alignment, Biology, computer.software_genre, Evolution, Molecular, Phylogenomics, Animals, Humans, Evolutionary Systematics, Amino Acid Sequence, Hidden Markov model, Phylogeny, Genetics, Sequence, Evolutionary Biology, Multidisciplinary, Phylogenetic tree, Probabilistic logic, Uncertainty, Molecular, Computational Biology, Reproducibility of Results, Genomics, Organismal Evolution, Tree (data structure), Medicine, Data mining, computer, Sequence Alignment, Algorithms, Software, Research Article
Abstract

Uncertainty in multiple sequence alignments has a large impact on phylogenetic analyses. Little has been done to evaluate the quality of individual positions in protein sequence alignments, which directly impact the accuracy of phylogenetic trees. Here we describe ZORRO, a probabilistic masking program that accounts for alignment uncertainty by assigning confidence scores to each alignment position. Using the BALIBASE database and in simulation studies, we demonstrate that masking by ZORRO significantly reduces the alignment uncertainty and improves the tree accuracy.

Published
2011

3. Evolution of genes and genomes on the Drosophila phylogeny

Author

Adam M. Phillippy, Edward Grandbois, Pen MacDonald, Iain MacCallum, Laura K. Reed, Wojciech Makalowski, Tracey Honan, Tania Tassinari Rieger, Melissa J. Hubisz, Josep M. Comeron, Douglas Smith, Jennifer Godfrey, Sebastian Strempel, Amr Abdouelleil, Brenton Gravely, Harindra Arachi, Albert J. Vilella, Marc Azer, Sarah A. Teichmann, Roger A. Hoskins, Corbin D. Jones, Keenan Ross, Derek Wilson, Stuart J. Newfeld, John Stalker, Thomas D. Watts, Dennis C. Friedrich, Therese A. Markow, Michael U. Mollenhauer, Tina Goode, Geneva Young, Terry Shea, Krista Lance, Karin A. Remington, Kevin A. Edwards, Lynne Aftuck, Cecil Rise, Sheridon Channer, Matthew D. Rasmussen, Nicole Stange-Thomann, Annie Lui, Robert A. Reenan, Todd Sparrow, Dave Begun, Tamrat Negash, Laura K. Sirot, Adrianne Brand, Adam Brown, Daisuke Yamamoto, Pema Phunkhang, Justin Abreu, Russell Schwartz, Ana Llopart, Abderrahim Farina, Kebede Maru, Chung-I Wu, Allen Alexander, Scott Anderson, So Jeong Lee, Jason Blye, Gary H. Karpen, Wilfried Haerty, Daniel A. Barbash, Peter Rogov, Barry O'Neill, Rachel Mittelman, Jakob Skou Pedersen, Leanne Hughes, Robert K. Bradley, Graziano Pesole, Wyatt W. Anderson, Anthony J. Greenberg, Alejandro Sánchez-Gracia, Julio Rozas, Stephen W. Schaeffer, Yama Thoulutsang, Roger K. Butlin, David H. Ardell, Stuart DeGray, Chris P. Ponting, Deborah E. Stage, Corrado Caggese, Montserrat Aguadé, Casey M. Bergman, Diallo Ferguson, Peili Zhang, Jeffrey R. Powell, Hajime Sato, Xiaohong Liu, Marta Sabariego Puig, Michael Parisi, Passang Dorje, Yoshihiko Tomimura, Adal Abebe, Carlo G. Artieri, Brian Hurhula, Filip Rege, Peter D. Keightley, Andrew Barry, Pablo Alvarez, Tsamla Tsamla, Marvin Wasserman, Santosh Jagadeeshan, Daniel L. Halligan, Chelsea D. Foley, Kim D. Delehaunty, Manfred Grabherr, Sourav Chatterji, Angela N. Brooks, James C. Costello, Mieke Citroen, James A. Yorke, Hsiao Pei Yang, Charles Chapple, Jian Lu, Carlos A. Machado, Norbu Dhargay, Tsering Wangchuk, Anat Caspi, Patrick Cahill, Tashi Bayul, Lisa Levesque, Otero L. Oyono, Atanas Mihalev, Dawa Thoulutsang, Dawn N. Abt, Sujaa Raghuraman, Manyuan Long, Maria Mendez-Lago, Charles Matthews, Kimberly Dooley, Alex Wong, Melanie A. Huntley, William R. Jeck, Ira Topping, Ben Kanga, José P. Abad, Ana Cristina Lauer Garcia, Brikti Abera, Kunsang Gyaltsen, Jonathan Butler, Alicia Franke, Michael C. Schatz, Cheewhye Chin, Charles F. Aquadro, Justin Johnson, Bryant F. McAllister, Georgia Giannoukos, M. Erii Husby, Rod A. Wing, Shangtao Liu, Jean L. Chang, Jennifer Daub, Eiko Kataoka, Leopold Parts, Rakela Lubonja, Margaret Priest, Yoshiko N. Tobari, Teena Mehta, Evgeny M. Zdobnov, Yeshi Lokyitsang, Richard Elong, Matthew J. Parisi, Louis Meneus, Eric S. Lander, Alan Filipski, Gary Gearin, Nabil Hafez, Nicholas Sisneros, David B. Jaffe, Ian Holmes, Marina Sirota, Leonid Boguslavskiy, Lisa Chuda, LaDeana W. Hillier, Meizhong Luo, Phil Batterham, Michael Kleber, Richard K. Wilson, Yama Cheshatsang, Qing Yu, Rebecca Reyes, Matthew W. Hahn, Andreas Heger, Mar Marzo, Patrick Minx, Kerstin Lindblad-Toh, Vera L. S. Valente, Adam Wilson, William C. Jordan, Mohamed A. F. Noor, Chiao-Feng Lin, Asha Kamat, Heather Ebling, Mihai Pop, Frances Letendre, Mariana F. Wolfner, Don Gilbert, Ngawang Sherpa, Riza M. Daza, Oana Mihai, Gabriel C. Wu, Aaron M. Berlin, Ewen F. Kirkness, Monika D. Huard, Robert S. Fulton, Randall H. Brown, Danni Zhong, Sharon Stavropoulos, Venky N. Iyer, Xu Mu, Christina R. Gearin, David M. Rand, Jerry A. Coyne, Dan Hultmark, Jill Falk, Christopher Patti, Montserrat Papaceit, James Meldrim, Valentine Mlenga, Muneo Matsuda, Sven Findeiß, Todd A. Schlenke, Kevin McKernan, Brian P. Walenz, Timothy B. Sackton, Leonardo Koerich, Peter An, Robert Nicol, Chuong B. Do, Dmitry Khazanovich, Carmen Segarra, Maura Costello, St Christophe Acer, Claudia Rohde, Serafim Batzoglou, Hadi Quesneville, Evan Mauceli, Andy Vo, Luciano M. Matzkin, Susan E. Celniker, Patrick M. O’Grady, William M. Gelbart, Lloyd Low, Jamal Abdulkadir, Jessica Spaulding, Brian R. Calvi, Charlotte Henson, Robert David, Jennifer L. Hall, Andrew G. Clark, Anastasia Gardiner, Susan M. Russo, Birhane Hagos, Kerri Topham, Amy Denise Reily, Eli Venter, Jerome Naylor, Sandra W. Clifton, Valer Gotea, Samuel R. Gross, Manolis Kellis, Claude Bonnet, Christopher Strader, Tashi Lokyitsang, Nyima Norbu, Jennifer Baldwin, Stephen M. Mount, Robert L. Strausberg, Shailendra Yadav, Kristipati Ravi Ram, Steven L. Salzberg, Erik Gustafson, David A. Garfield, Eva Freyhult, Arthur L. Delcher, Enrico Blanco, Granger G. Sutton, Jason M. Tsolas, Charles Robin, Angie S. Hinrichs, Christopher D. Smith, Jane Wilkinson, Brendan McKernan, Fritz Pierre, William McCusker, Brian Oliver, Barry E. Garvin, Sudhir Kumar, Peter Kisner, Kunsang Dorjee, A. Bernardo Carvalho, Anna Montmayeur, Andrew Zimmer, Diana Shih, Wei Tao, Shiaw Pyng Yang, Sante Gnerre, Sampath Settipalli, Thu Nguyen, Paolo Barsanti, Brian P. Lazzaro, Sonja J. Prohaska, J. Craig Venter, Senait Tesfaye, Susan McDonough, Kim D. Pruitt, Alexander Stark, Sergio Castrezana, Lucinda Fulton, Richard T. Lapoint, Greg Gibson, John Spieth, Boris Adryan, Georgius De Haan, Sheila Fisher, Daniel A. Pollard, Seva Kashin, Rob J. Kulathinal, Michael B. Eisen, Nathaniel Novod, Christina Demaso, Alan Dupes, Amanda M. Larracuente, Toby Bloom, Alfredo Villasante, Charles H. Langley, Rama S. Singh, Niall J. Lennon, Kristi L. Montooth, Daniel Barker, Wolfgang Stephan, David Sturgill, Ruiqiang Li, Andrew Hollinger, Boris Boukhgalter, Talene Thomson, Patrick Cooke, Zac Zwirko, Nadia D. Singh, Michael Weiand, Lior Pachter, Roderic Guigó, Yu Zhang, Jay D. Evans, Stephanie Bosak, Rosie Levine, Lu Shi, Kiyohito Yoshida, Carolyn S. McBride, Pouya Kheradpour, William Brockman, Alberto Civetta, Hiroshi Akashi, Marcia Lara, Susan Faro, Sam Griffiths-Jones, Michael R. Brent, Thomas H. Eickbush, Gane Ka-Shu Wong, Elizabeth P. Ryan, Erica Anderson, Roberta Kwok, Asif T. Chinwalla, Sahal Osman, Nga Nguyen, Damiano Porcelli, Missole Doricent, Saverio Vicario, Marc Rubenfield, Bárbara Negre, Gillian M. Halter, Erin E. Dooley, Elena R. Lozovsky, William Lee, Alville Collymore, Catherine Stone, Tanya Mihova, Jun Wang, Karsten Kristiansen, Imane Bourzgui, Michael F. Lin, Katie D'Aco, Filipe G. Vieira, Choe Norbu, Yu-Hui Rogers, Aaron L. Halpern, Eugene W. Myers, Sharleen Grewal, Robert T. Good, Alfredo Ruiz, Dave Kudrna, Joseph Graham, Alex Lipovsky, Leonidas Mulrain, Tsering Wangdi, Roman Arguello, Mira V. Han, Arjun Bhutkar, Rasmus Nielsen, David J. Saranga, Aleksey V. Zimin, Vasilia Magnisalis, Helen Vassiliev, Thomas C. Kaufman, Eva Markiewicz, Temple F. Smith, Jinlei Liu, Loryn Gadbois, Michael G. Ritchie, Lisa Zembek, Daniel Bessette, Pasang Bachantsang, Adam Navidi, Department of Molecular Biology and Genetics, Cornell University [New York], Lawrence Berkeley National Laboratory [Berkeley] (LBNL), University of California [Berkeley], University of California, Agencourt Bioscience Corporation, Partenaires INRAE, Faculty of Life Science, University of Manchester [Manchester], Laboratory of Cellular and Developmental Biology (LCDB), NIDDK, NIH, Department of Ecology and Evolutionary Biology, University of Arizona, Department of Biology, Indiana University [Bloomington], Indiana University System-Indiana University System, Massachusetts Institute of Technology (MIT), Harvard University [Cambridge], Centro de Biología Molecular Severo Ochoa [Madrid] (CBMSO), Universidad Autonoma de Madrid (UAM)-Consejo Superior de Investigaciones Científicas [Madrid] (CSIC), Brown University, Laboratory of Molecular Biology, Medical Research Council, Departament de Genetica, Universitat de Barcelona (UB), Pennsylvania State University (Penn State), Penn State System-Penn State System, Department of Genetics, University of Georgia [USA], Uppsala University, Department of Ecology and Evolution [Lausanne], Université de Lausanne (UNIL), McMaster University, School of Biology, IE University, Università degli Studi di Bari Aldo Moro, University of Melbourne, Stanford University, University of California [Davis] (UC Davis), Boston University [Boston] (BU), Centro de Regulación Genómica (CRG), Universitat Pompeu Fabra [Barcelona] (UPF), Washington University in Saint Louis (WUSTL), University of Sheffield, Syracuse University, Universidade Federal Rural do Rio de Janeiro (UFRRJ), Department of Bioengineering, Beihang University (BUAA), Tucson Stock Center, Genome Center, University of California-University of California, Genome Sequencing Center, University of Washington School of Medicine, University of Winnipeg, Iowa State University (ISU), Indiana University System, The Wellcome Trust Sanger Institute [Cambridge], Center for Bioinformatics and Computational Biology, University of Delaware [Newark], Illinois State University, University of Rochester [USA], United States Department of Agriculture (USDA), Arizona State University [Tempe] (ASU), Leipzig University, Universidade Federal do Rio Grande do Sul (UFRGS), Duke University, North Carolina State University [Raleigh] (NC State), University of North Carolina System (UNC)-University of North Carolina System (UNC), University of Connecticut (UCONN), Computer Science Département, Université Saint-Esprit de Kaslik (USEK), Mc Master University, Indiana University, Institute of Evolutionary Biology, University of Edinburgh, J. Craig Venter Institute [La Jolla, USA] (JCVI), University of Oxford [Oxford], Center for Biomolecular Science and Engineering, Unité de Recherche Génomique Info (URGI), Institut National de la Recherche Agronomique (INRA), and Zdobnov, Evgeny

Subjects
melanogaster genome, 0106 biological sciences, RNA, Untranslated, [SDV]Life Sciences [q-bio], Genome, Insect, RNA, Untranslated/genetics, Genes, Insect, 01 natural sciences, Genome, Genome, Insect/ genetics, Gene Order, Genome, Mitochondrial/genetics, Drosophila Proteins, Phylogeny, ddc:616, Genetics, 0303 health sciences, Multidisciplinary, biology, Reproduction, Genomics, Multigene Family/genetics, Reproduction/genetics, DNA Transposable Elements/genetics, Genes, Insect/ genetics, Multigene Family, dosage compensation, Drosophila, amino-acid substitution, Drosophila Protein, Drosophila Proteins/genetics, Synteny/genetics, fruit-fly, 010603 evolutionary biology, Synteny, Drosophila sechellia, Evolution, Molecular, 03 medical and health sciences, Phylogenetics, Molecular evolution, Codon/genetics, [SDV.BV]Life Sciences [q-bio]/Vegetal Biology, Animals, adaptive protein evolution, Codon, 030304 developmental biology, Gene Order/genetics, molecular evolution, fungi, Immunity, synonymous codon usage, Sequence Analysis, DNA, Immunity/genetics, biology.organism_classification, Drosophila mojavensis, Evolutionary biology, Genome, Mitochondrial, DNA Transposable Elements, maximum-likelihood, noncoding dna, Drosophila/ classification/ genetics/immunology/metabolism, Sequence Alignment, natural-selection, Drosophila yakuba
Abstract

Affiliations des auteurs : cf page 216 de l'article; International audience; Comparative analysis of multiple genomes in a phylogenetic framework dramatically improves the precision and sensitivity of evolutionary inference, producing more robust results than single-genome analyses can provide. The genomes of 12 Drosophila species, ten of which are presented here for the first time (sechellia, simulans, yakuba, erecta, ananassae, persimilis, willistoni, mojavensis, virilis and grimshawi), illustrate how rates and patterns of sequence divergence across taxa can illuminate evolutionary processes on a genomic scale. These genome sequences augment the formidable genetic tools that have made Drosophila melanogaster a pre-eminent model for animal genetics, and will further catalyse fundamental research on mechanisms of development, cell biology, genetics, disease, neurobiology, behaviour, physiology and evolution. Despite remarkable similarities among these Drosophila species, we identified many putatively non-neutral changes in protein-coding genes, non-coding RNA genes, and cis-regulatory regions. These may prove to underlie differences in the ecology and behaviour of these diverse species.

Published
2007
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4. Patterns of gene duplication and intron loss in the ENCODE regions suggest a confounding factor

Author

Sourav Chatterji and Lior Pachter

Subjects
Genetics, Medical, Pair-rule gene, Biology, Gene evolution, Article, Evolution, Molecular, Mice, Exon, Molecular evolution, Gene Duplication, Gene duplication, Gene cluster, Genetics, Animals, Humans, Gene family, Mammalian genome evolution, Gene, Phylogeny, ENCODE, Sequence Deletion, Base Sequence, Intron, Introns, Rats, Takifugu, Intron loss, Gene structure evolution, Exon–intron structure
Abstract

The exon–intron structure of eukaryotic genes allows for phenomena such as alternative splicing, nonsense-mediated decay, and regulation through untranslated regions. However, the evolution of the exon structure of genes is not well elucidated because of limited and phylogenetically sparse data sets. In this study, we use the phylogenetically diverse sequencing of the ENCODE regions to study gene structure evolution in mammalian genomes. This first phylogenetically diverse study of gene structure changes offers insights into the mode and tempo of mammalian gene structure evolution. The genes undergoing structure changes appear to be moderately to highly expressed in germline cells and show levels of selection similar to those of other ENCODE genes. Patterns of gene duplication of the affected genes are more complex than expected. The number of sampled genomes is sufficiently dense to infer that certain gene duplications happened after intron loss. Thus, although gene duplication is highly correlated with intron loss, we conclude that structural changes in genes are not necessarily due to a loss of constraint following gene duplication as previously suggested.

Published
2007

5. Genome sequence of the Brown Norway rat yields insights into mammalian evolution

Author

Rui Chen, George M. Weinstock, Cynthia Pfannkoch, Chris P. Ponting, Mark S. Guyer, Manuel L. Gonzalez-Garay, James Taylor, Yixin Chen, Eric D. Green, Simon Cawley, Jo Gullings-Handley, Granger G. Sutton, Jose M. Duarte, Stephen M. J. Searle, Laura Elnitski, Aleksandar Milosavljevic, Alicia Hawes, Stephen C. Mockrin, Oliver Delgado, Shannon Dugan-Rocha, Christine Deramo, Dean Pasko, Marina Alexandersson, Eitan E. Winter, Robert W. Blakesley, Donna Karolchik, Huajun Wang, David Shteynberg, Diane M. Dunn, Carlos López-Otín, Abel Ureta-Vidal, Jia Qian Wu, A. Glodek, Shan Yang, Natasja Wye, Sue Daniels, Keita Geer, Arian F.A. Smit, Jozef Lazar, Pallavi Eswara, Carl Fosler, Douglas Smith, Martin Krzywinski, Uma Mudunuri, George Miner, Herbert Schulz, Angie S. Hinrichs, Manimozhiyan Arumugam, Josep F. Abril, Ursula Vitt, Andrei Volkov, Peter J. Tonellato, Von Bing Yap, Bingshan Li, Jyoti Shetty, Ian Bosdet, Evgeny M. Zdobnov, San Diego Glenn Tesler, Chris Fjell, Yi Zhang, Francis S. Collins, Serafim Batzoglou, Robert Baertsch, Laura Clarke, David Neil Cooper, Carrie Mathewson, Diana L. Kolbe, Kate R. Rosenbloom, Valerie Curwen, Bret A. Payseur, Gerard G. Bouffard, Michael R. Brent, Barbara J. Trask, Scott A. Beatson, Sourav Chatterji, Francisco Camara, Detlev Ganten, Andrew R. Jackson, Claire M. Fraser, Klaus Lindpaintner, Yue Liu, Mark Raymond Adams, Robert A. Holt, Erik Gustafson, Hiram Clawson, Michael L. Metzker, John Douglas Mcpherson, Gregory M. Cooper, Martin S. Taylor, Scott Schwartz, Hui Huang, Darryl Gietzen, Patrick Cahill, Geoffrey Okwuonu, Sandra Hines, J. Craig Venter, Jan Monti, David Steffen, Marco A. Marra, Arnold Kana, Richard D. Emes, Asim Sarosh Siddiqui, Erica Sodergren, Mario Caccamo, Jim Wingrove, Richard R. Copley, Leo Goodstadt, Francesca Chiaromonte, Davinder Virk, Kirt Martin, Colin N. Dewey, Xiang Qin, T. Dan Andrews, K. James Durbin, Michael P. McLeod, Susan Bromberg, Pavel A. Pevzner, Petra Brandt, Austin J. Cooney, Don Jennings, Baoli Zhu, Lynn Doucette-Stamm, Heather Trumbower, Eray Tüzün, Kristian Stevens, Norbert Hubner, Young-Ae Lee, Zhiping Gu, Harold Riethman, Xose S. Puente, Cynthia Sitter, Michael Brudno, Gerald Nyakatura, Oliver Hummel, Caleb Webber, Olivier Couronne, Kim Fechtel, W. J. Kent, Zhengdong D. Zhang, Xing Zhi Song, Matt Weirauch, Ewan Birney, Richard A. Gibbs, William C. Nierman, Anne E. Kwitek, Alexander Poliakov, Mary Barnstead, Jeanette Schmidt, Yanru Ren, Howard J. Jacob, Kateryna D. Makova, Edward M. Rubin, Susan Old, Trixie Nguyen, Arend Sidow, Nicolas Bray, Hong Mei Lee, Lisa M. D'Souza, Heinz Himmelbauer, Cara Woodwark, Peter G. Amanatides, Paul Havlak, Janet M. Young, Eduardo Eyras, Thomas Kreitler, Heming Xing, Sofiya Shatsman, Kushal Chakrabarti, Stephen Rice, Cheryl A. Evans, Kim C. Worley, Peter D. Stenson, Rachel Gill, Pieter J. de Jong, Jacqueline E. Schein, Lior Pachter, Steve Ferriera, Santa Cruz David Haussler, Ross C. Hardison, Holly Baden-Tillson, Margaret Adetobi, Krishna M. Roskin, Guillaume Bourque, Eric A. Stone, Emmanuel Mongin, Michele Clamp, Margaret Morgan, Richard Durbin, Cathy Riemer, Anton Nekrutenko, Mikita Suyama, Soo H. Chin, Kenneth J. Kalafus, Anat Caspi, Donna M. Muzny, Inna Dubchak, Shaying Zhao, Sofyia Abramzon, Michael I. Jensen-Seaman, Steven E. Scherer, Lora Lewis, M. Mar Albà, Terrence S. Furey, Peer Bork, Trevor Woodage, David A. Wheeler, Hans Lehrach, Graham R. Scott, Bin Ma, Paula E. Burch, Robert B. Weiss, Kazutoyo Osoegawa, Evan E. Eichler, Amy Egan, Webb Miller, Cheryl L. Kraft, Steven J.M. Jones, Jeffrey A. Bailey, Roderic Guigó, David Torrents, Heike Zimdahl, Adam Felsenfeld, Jane Peterson, Simon N. Twigger, Claudia Goesele, Keith Weinstock, Minmei Hou, and Zdobnov, Evgeny

Subjects
Male, Models, Molecular, Mammalian Genetics, RNA, Untranslated, Retroelements, Sequence analysis, Gene prediction, Centromere, Genomics, Biology, Regulatory Sequences, Nucleic Acid, Genome, DNA, Mitochondrial, Polymorphism, Single Nucleotide, Rat Genome Database, Evolution, Molecular, Mice, Gene Duplication, Rats, Inbred BN, Animals, Humans, ddc:576.5, Gene, Whole genome sequencing, Genetics, Base Composition, Multidisciplinary, Sequence Analysis, DNA, Telomere, Chromosomes, Mammalian, Introns, Rats, Evolutionary biology, Mutagenesis, DNA Transposable Elements, CpG Islands, RNA Splice Sites
Abstract

The laboratory rat (Rattus norvegicus) is an indispensable tool in experimental medicine and drug development, having made inestimable contributions to human health. We report here the genome sequence of the Brown Norway (BN) rat strain. The sequence represents a high-quality 'draft' covering over 90% of the genome. The BN rat sequence is the third complete mammalian genome to be deciphered, and three-way comparisons with the human and mouse genomes resolve details of mammalian evolution. This first comprehensive analysis includes genes and proteins and their relation to human disease, repeated sequences, comparative genome-wide studies of mammalian orthologous chromosomal regions and rearrangement breakpoints, reconstruction of ancestral karyotypes and the events leading to existing species, rates of variation, and lineage-specific and lineage-independent evolutionary events such as expansion of gene families, orthology relations and protein evolution.

Published
2003

6. Assembling the Marine Metagenome, One Cell at a Time

Author

Michael E. Sieracki, Gary Xie, José M. González, Ramunas Stepanauskas, Pavel Senin, Chi Yang, Jonathan A. Eisen, Tanja Woyke, Sourav Chatterji, Jimmy H. Saw, Hajnalka Kiss, Cliff Han, Jan Fang Cheng, and Alex Copeland

Subjects
Rhodopsin, Science, Marine and Aquatic Sciences/Genetics, Genomics, and Barcoding, Marine and Aquatic Sciences, Marine Biology, Genomics, Biology, Ecology/Marine and Freshwater Ecology, Genome, DNA sequencing, 03 medical and health sciences, Marine and Aquatic Sciences/Microbiology, RNA, Ribosomal, 16S, Rhodopsins, Microbial, Marine and Aquatic Sciences/Biological Oceanography, Animals, Microbiology/Environmental Microbiology, 14. Life underwater, Genetics and Genomics/Genomics, Phylogeny, 030304 developmental biology, Marine and Aquatic Sciences/Ecology, Genetics, Comparative genomics, Marine biology, 0303 health sciences, Multidisciplinary, 030306 microbiology, Shotgun sequencing, Biodiversity, Sequence Analysis, DNA, Marine and Aquatic Sciences/Bioinformatics, Plankton, Computational Biology/Metagenomics, Genetics and Genomics/Genome Projects, Single cell sequencing, Genes, Bacterial, Metagenomics, Evolutionary biology, Medicine, Genome, Bacterial, Ecology/Environmental Microbiology, Research Article, Computational Biology/Genomics
Abstract

The difficulty associated with the cultivation of most microorganisms and the complexity of natural microbial assemblages, such as marine plankton or human microbiome, hinder genome reconstruction of representative taxa using cultivation or metagenomic approaches. Here we used an alternative, single cell sequencing approach to obtain high-quality genome assemblies of two uncultured, numerically significant marine microorganisms. We employed fluorescence-activated cell sorting and multiple displacement amplification to obtain hundreds of micrograms of genomic DNA from individual, uncultured cells of two marine flavobacteria from the Gulf of Maine that were phylogenetically distant from existing cultured strains. Shotgun sequencing and genome finishing yielded 1.9 Mbp in 17 contigs and 1.5 Mbp in 21 contigs for the two flavobacteria, with estimated genome recoveries of about 91% and 78%, respectively. Only 0.24% of the assembling sequences were contaminants and were removed from further analysis using rigorous quality control. In contrast to all cultured strains of marine flavobacteria, the two single cell genomes were excellent Global Ocean Sampling (GOS) metagenome fragment recruiters, demonstrating their numerical significance in the ocean. The geographic distribution of GOS recruits along the Northwest Atlantic coast coincided with ocean surface currents. Metabolic reconstruction indicated diverse potential energy sources, including biopolymer degradation, proteorhodopsin photometabolism, and hydrogen oxidation. Compared to cultured relatives, the two uncultured flavobacteria have small genome sizes, few non-coding nucleotides, and few paralogous genes, suggesting adaptations to narrow ecological niches. These features may have contributed to the abundance of the two taxa in specific regions of the ocean, and may have hindered their cultivation. We demonstrate the power of single cell DNA sequencing to generate reference genomes of uncultured taxa from a complex microbial community of marine bacterioplankton. A combination of single cell genomics and metagenomics enabled us to analyze the genome content, metabolic adaptations, and biogeography of these taxa.

Published
2009
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