Literature DB >> 15815621

Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

Ladeana W Hillier1, Tina A Graves, Robert S Fulton, Lucinda A Fulton, Kymberlie H Pepin, Patrick Minx, Caryn Wagner-McPherson, Dan Layman, Kristine Wylie, Mandeep Sekhon, Michael C Becker, Ginger A Fewell, Kimberly D Delehaunty, Tracie L Miner, William E Nash, Colin Kremitzki, Lachlan Oddy, Hui Du, Hui Sun, Holland Bradshaw-Cordum, Johar Ali, Jason Carter, Matt Cordes, Anthony Harris, Amber Isak, Andrew van Brunt, Christine Nguyen, Feiyu Du, Laura Courtney, Joelle Kalicki, Philip Ozersky, Scott Abbott, Jon Armstrong, Edward A Belter, Lauren Caruso, Maria Cedroni, Marc Cotton, Teresa Davidson, Anu Desai, Glendoria Elliott, Thomas Erb, Catrina Fronick, Tony Gaige, William Haakenson, Krista Haglund, Andrea Holmes, Richard Harkins, Kyung Kim, Scott S Kruchowski, Cynthia Madsen Strong, Neenu Grewal, Ernest Goyea, Shunfang Hou, Andrew Levy, Scott Martinka, Kelly Mead, Michael D McLellan, Rick Meyer, Jennifer Randall-Maher, Chad Tomlinson, Sara Dauphin-Kohlberg, Amy Kozlowicz-Reilly, Neha Shah, Sharhonda Swearengen-Shahid, Jacqueline Snider, Joseph T Strong, Johanna Thompson, Martin Yoakum, Shawn Leonard, Charlene Pearman, Lee Trani, Maxim Radionenko, Jason E Waligorski, Chunyan Wang, Susan M Rock, Aye-Mon Tin-Wollam, Rachel Maupin, Phil Latreille, Michael C Wendl, Shiaw-Pyng Yang, Craig Pohl, John W Wallis, John Spieth, Tamberlyn A Bieri, Nicolas Berkowicz, Joanne O Nelson, John Osborne, Li Ding, Rekha Meyer, Aniko Sabo, Yoram Shotland, Prashant Sinha, Patricia E Wohldmann, Lisa L Cook, Matthew T Hickenbotham, James Eldred, Donald Williams, Thomas A Jones, Xinwei She, Francesca D Ciccarelli, Elisa Izaurralde, James Taylor, Jeremy Schmutz, Richard M Myers, David R Cox, Xiaoqiu Huang, John D McPherson, Elaine R Mardis, Sandra W Clifton, Wesley C Warren, Asif T Chinwalla, Sean R Eddy, Marco A Marra, Ivan Ovcharenko, Terrence S Furey, Webb Miller, Evan E Eichler, Peer Bork, Mikita Suyama, David Torrents, Robert H Waterston, Richard K Wilson.   

Abstract

Human chromosome 2 is unique to the human lineage in being the product of a head-to-head fusion of two intermediate-sized ancestral chromosomes. Chromosome 4 has received attention primarily related to the search for the Huntington's disease gene, but also for genes associated with Wolf-Hirschhorn syndrome, polycystic kidney disease and a form of muscular dystrophy. Here we present approximately 237 million base pairs of sequence for chromosome 2, and 186 million base pairs for chromosome 4, representing more than 99.6% of their euchromatic sequences. Our initial analyses have identified 1,346 protein-coding genes and 1,239 pseudogenes on chromosome 2, and 796 protein-coding genes and 778 pseudogenes on chromosome 4. Extensive analyses confirm the underlying construction of the sequence, and expand our understanding of the structure and evolution of mammalian chromosomes, including gene deserts, segmental duplications and highly variant regions.

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Year:  2005        PMID: 15815621     DOI: 10.1038/nature03466

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   49.962


  28 in total

1.  Whole-genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing.

Authors:  Akihiro Fujimoto; Hidewaki Nakagawa; Naoya Hosono; Kaoru Nakano; Tetsuo Abe; Keith A Boroevich; Masao Nagasaki; Rui Yamaguchi; Tetsuo Shibuya; Michiaki Kubo; Satoru Miyano; Yusuke Nakamura; Tatsuhiko Tsunoda
Journal:  Nat Genet       Date:  2010-10-24       Impact factor: 38.330

2.  4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome.

Authors:  Goran Cuturilo; Björn Menten; Aleksandar Krstic; Danijela Drakulic; Ida Jovanovic; Vojislav Parezanovic; Milena Stevanovic
Journal:  Eur J Pediatr       Date:  2011-07-22       Impact factor: 3.183

3.  Gene copy number variation spanning 60 million years of human and primate evolution.

Authors:  Laura Dumas; Young H Kim; Anis Karimpour-Fard; Michael Cox; Janet Hopkins; Jonathan R Pollack; James M Sikela
Journal:  Genome Res       Date:  2007-07-31       Impact factor: 9.043

Review 4.  Gene silencing and Polycomb group proteins: an overview of their structure, mechanisms and phylogenetics.

Authors:  Shahram Golbabapour; Nazia Abdul Majid; Pouya Hassandarvish; Maryam Hajrezaie; Mahmood Ameen Abdulla; A Hamid A Hadi
Journal:  OMICS       Date:  2013-06

5.  Phytochemicals from Ayurvedic plants as potential medicaments for ovarian cancer: an in silico analysis.

Authors:  Sahar Qazi; Khalid Raza
Journal:  J Mol Model       Date:  2021-03-25       Impact factor: 1.810

6.  Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes.

Authors:  Adam Siepel; Gill Bejerano; Jakob S Pedersen; Angie S Hinrichs; Minmei Hou; Kate Rosenbloom; Hiram Clawson; John Spieth; Ladeana W Hillier; Stephen Richards; George M Weinstock; Richard K Wilson; Richard A Gibbs; W James Kent; Webb Miller; David Haussler
Journal:  Genome Res       Date:  2005-07-15       Impact factor: 9.043

7.  Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.

Authors:  Derek E Neilson; Mark D Adams; Caitlin M D Orr; Deborah K Schelling; Robert M Eiben; Douglas S Kerr; Jane Anderson; Alexander G Bassuk; Ann M Bye; Anne-Marie Childs; Antonia Clarke; Yanick J Crow; Maja Di Rocco; Christian Dohna-Schwake; Gregor Dueckers; Alfonso E Fasano; Artemis D Gika; Dimitris Gionnis; Mark P Gorman; Padraic J Grattan-Smith; Annette Hackenberg; Alice Kuster; Markus G Lentschig; Eduardo Lopez-Laso; Elysa J Marco; Sotiria Mastroyianni; Julie Perrier; Thomas Schmitt-Mechelke; Serenella Servidei; Angeliki Skardoutsou; Peter Uldall; Marjo S van der Knaap; Karrie C Goglin; David L Tefft; Cristin Aubin; Philip de Jager; David Hafler; Matthew L Warman
Journal:  Am J Hum Genet       Date:  2009-01       Impact factor: 11.025

8.  Evolutionary descent of a human chromosome 6 neocentromere: a jump back to 17 million years ago.

Authors:  Oronzo Capozzi; Stefania Purgato; Pietro D'Addabbo; Nicoletta Archidiacono; Paola Battaglia; Anna Baroncini; Antonella Capucci; Roscoe Stanyon; Giuliano Della Valle; Mariano Rocchi
Journal:  Genome Res       Date:  2009-05       Impact factor: 9.043

9.  Differential radio-sensitivities of human chromosomes 1 and 2 in one donor in interphase- and metaphase-spreads after 60Co gamma-irradiation.

Authors:  Rupak Pathak; Adarsh Ramakumar; Uma Subramanian; Pataje G S Prasanna
Journal:  BMC Med Phys       Date:  2009-06-16

10.  DNaseI hypersensitivity at gene-poor, FSH dystrophy-linked 4q35.2.

Authors:  Xueqing Xu; Koji Tsumagari; Janet Sowden; Rabi Tawil; Alan P Boyle; Lingyun Song; Terrence S Furey; Gregory E Crawford; Melanie Ehrlich
Journal:  Nucleic Acids Res       Date:  2009-12       Impact factor: 16.971

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