Journal ArticleDOI
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
Alison J. Coffey,Robert A. Brooksbank,Oliver Brandau,Toshitaka Oohashi,Gareth R. Howell,Jacqueline M. Bye,Anthony P. Cahn,Anthony P. Cahn,Jillian Durham,Paul Heath,Paul Wray,Rebecca Pavitt,Jane Wilkinson,Margaret A. Leversha,Elizabeth J. Huckle,Charles Shaw-Smith,Andrew Dunham,Susan Rhodes,Volker Schuster,Giovanni Porta,Luo Yin,Paola Serafini,Bakary S. Sylla,Massimo Zollo,Brunella Franco,Alessandra Bolino,Marco Seri,Arpad Lanyi,Jack R. Davis,David Webster,Ann Harris,Gilbert M. Lenoir,Genevieve de St Basile,Alison Jones,Bernd H. Behloradsky,Helene Achatz,Jan Murken,Reinhard Fässler,Janos Sumegi,Giovanni Romeo,M. Vaudin,Mark T. Ross,Alfons Meindl,David R. Bentley +43 more
TLDR
A gene, SH2D1A, is identified that is mutated in XLP patients and encodes a novel protein composed of a single SH2 domain that is expressed in many tissues involved in the immune system.Abstract:
X-linked lymphoproliferative syndrome (XLP or Duncan disease) is characterized by extreme sensitivity to Epstein-Barr virus (EBV), resulting in a complex phenotype manifested by severe or fatal infectious mononucleosis, acquired hypogammaglobulinemia and malignant lymphoma. We have identified a gene, SH2D1A, that is mutated in XLP patients and encodes a novel protein composed of a single SH2 domain. SH2D1A is expressed in many tissues involved in the immune system. The identification of SH2D1A will allow the determination of its mechanism of action as a possible regulator of the EBV-induced immune response.read more
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Initial sequencing and analysis of the human genome.
Eric S. Lander,Lauren Linton,Bruce W. Birren,Chad Nusbaum,Michael C. Zody,Jennifer Baldwin,Keri Devon,Ken Dewar,Michael Doyle,William Fitzhugh,Roel Funke,Diane Gage,Katrina Harris,Andrew Heaford,John Howland,Lisa Kann,Jessica A. Lehoczky,Rosie Levine,Paul A. McEwan,Kevin McKernan,James Meldrim,Jill P. Mesirov,Cher Miranda,William Morris,Jerome Naylor,Christina Raymond,Mark Rosetti,Ralph Santos,Andrew Sheridan,Carrie Sougnez,Nicole Stange-Thomann,Nikola Stojanovic,Aravind Subramanian,Dudley Wyman,Jane Rogers,John Sulston,R Ainscough,Stephan Beck,David Bentley,John Burton,C M Clee,Nigel P. Carter,Alan Coulson,Rebecca Deadman,Panos Deloukas,Andrew Dunham,Ian Dunham,Richard Durbin,Lisa French,Darren Grafham,Simon G. Gregory,Tim Hubbard,Sean Humphray,Adrienne Hunt,Matthew Jones,Christine Lloyd,Amanda McMurray,Lucy Matthews,Simon Mercer,Sarah Milne,James C. Mullikin,Andrew J. Mungall,Robert W. Plumb,Mark T. Ross,Ratna Shownkeen,Sarah Sims,Robert H. Waterston,Richard K. Wilson,LaDeana W. Hillier,John Douglas Mcpherson,Marco A. Marra,Elaine R. Mardis,Lucinda Fulton,Asif T. Chinwalla,Kymberlie H. Pepin,Warren Gish,Stephanie L. Chissoe,Michael C. Wendl,Kim D. Delehaunty,Tracie L. Miner,Andrew Delehaunty,Jason B. Kramer,Lisa Cook,Robert S. Fulton,Douglas L. Johnson,Patrick Minx,Sandra W. Clifton,Trevor Hawkins,Elbert Branscomb,Paul Predki,Paul G. Richardson,Sarah Wenning,Tom Slezak,Norman A. Doggett,Jan Fang Cheng,Anne S. Olsen,Susan Lucas,Christopher J. Elkin,Edward Uberbacher,Marvin Frazier,Richard A. Gibbs,Donna M. Muzny,Steven E. Scherer,John Bouck,Erica Sodergren,Kim C. Worley,Catherine M. Rives,James H. Gorrell,Michael L. Metzker,Susan L. Naylor,Raju Kucherlapati,David L. Nelson,George M. Weinstock,Yoshiyuki Sakaki,Asao Fujiyama,Masahira Hattori,Tetsushi Yada,Atsushi Toyoda,Takehiko Itoh,Chiharu Kawagoe,Hidemi Watanabe,Yasushi Totoki,Todd D. Taylor,Jean Weissenbach,Roland Heilig,William Saurin,François Artiguenave,Philippe Brottier,Thomas Brüls,Eric Pelletier,Catherine Robert,Patrick Wincker,André Rosenthal,Matthias Platzer,Gerald Nyakatura,Stefan Taudien,Andreas Rump,Douglas R. Smith,Lynn Doucette-Stamm,Marc Rubenfield,Keith Weinstock,Mei Lee Hong,Joann Dubois,Huanming Yang,Jun Yu,Jian Wang,Guyang Huang,Jun Gu,Leroy Hood,Lee Rowen,Anup Madan,Shizen Qin,Ronald W. Davis,Nancy A. Federspiel,A. Pia Abola,Michael Proctor,Bruce A. Roe,Feng Chen,Huaqin Pan,Juliane Ramser,Hans Lehrach,Richard Reinhardt,W. Richard McCombie,Melissa De La Bastide,Neilay Dedhia,H. Blöcker,K. Hornischer,Gabriele Nordsiek,Richa Agarwala,L. Aravind,Jeffrey A. Bailey,Alex Bateman,Serafim Batzoglou,Ewan Birney,Peer Bork,Daniel G. Brown,Christopher B. Burge,Lorenzo Cerutti,Hsiu Chuan Chen,Deanna M. Church,Michele Clamp,Richard R. Copley,Tobias Doerks,Sean R. Eddy,Evan E. Eichler,Terrence S. Furey,James E. Galagan,James G. R. Gilbert,Cyrus L. Harmon,Yoshihide Hayashizaki,David Haussler,Henning Hermjakob,Karsten Hokamp,Wonhee Jang,L. Steven Johnson,Thomas A. Jones,Simon Kasif,Arek Kaspryzk,Scot Kennedy,W. James Kent,Paul Kitts,Eugene V. Koonin,Ian F Korf,David Kulp,Doron Lancet,Todd M. Lowe,Aoife McLysaght,Tarjei S. Mikkelsen,John V. Moran,Nicola Mulder,Victor J. Pollara,Chris P. Ponting,Greg Schuler,Jörg Schultz,Guy Slater,Arian F.A. Smit,Elia Stupka,Joseph Szustakowki,Danielle Thierry-Mieg,Jean Thierry-Mieg,Lukas Wagner,John W. Wallis,Raymond Wheeler,Alan Williams,Yuri I. Wolf,Kenneth H. Wolfe,Shiaw Pyng Yang,Ru Fang Yeh,Francis S. Collins,Mark S. Guyer,Jane Peterson,Adam Felsenfeld,Kris A. Wetterstrand,Richard M. Myers,Jeremy Schmutz,Mark Dickson,Jane Grimwood,David R. Cox,Maynard V. Olson,Rajinder Kaul,Christopher K. Raymond,Nobuyoshi Shimizu,Kazuhiko Kawasaki,Shinsei Minoshima,Glen A. Evans,Maria Athanasiou,Roger A. Schultz,Aristides Patrinos,Michael J. Morgan +248 more
TL;DR: The results of an international collaboration to produce and make freely available a draft sequence of the human genome are reported and an initial analysis is presented, describing some of the insights that can be gleaned from the sequence.
Journal ArticleDOI
Activating receptors and coreceptors involved in human natural killer cell-mediated cytolysis.
Alessandro Moretta,Cristina Bottino,Massimo Vitale,Daniela Pende,Claudia Cantoni,Maria Cristina Mingari,Roberto Biassoni,Lorenzo Moretta +7 more
TL;DR: The discovery of MHC-specific inhibitory receptors in mouse and in human clarified the molecular basis of this important NK cell function, and some of these receptors have now been identified in humans, thus shedding some light on the molecular mechanisms involved in NK cell activation during the process of natural cytotoxicity.
Journal ArticleDOI
The DNA sequence of the human X chromosome
Mark T. Ross,Darren Grafham,Alison J. Coffey,Steven E. Scherer,Kirsten McLay,Donna M. Muzny,Matthias Platzer,Gareth R. Howell,Christine Burrows,Christine P. Bird,Adam Frankish,Frances L Lovell,Kevin L. Howe,Jennifer L. Ashurst,Robert S. Fulton,Ralf Sudbrak,Ralf Sudbrak,Gaiping Wen,Matthew C. Jones,Matthew E. Hurles,T. Daniel Andrews,Carol Scott,Stephen M. J. Searle,Juliane Ramser,Adam Whittaker,Rebecca Deadman,Nigel P. Carter,Sarah E. Hunt,Rui Chen,Andrew Cree,Preethi H. Gunaratne,Paul Havlak,Anne Hodgson,Michael L. Metzker,Stephen Richards,Graham Scott,David Steffen,Erica Sodergren,David A. Wheeler,Kim C. Worley,R Ainscough,K D Ambrose,M. Ali Ansari-Lari,Swaroop Aradhya,R I S Ashwell,A K Babbage,Claire L Bagguley,Andrea Ballabio,Ruby Banerjee,Gary E Barker,K F Barlow,Ian P. Barrett,Karen N Bates,David Beare,Helen Beasley,Oliver Beasley,Alfred Beck,Graeme Bethel,Karin Blechschmidt,Nicola Brady,Sarah Bray-Allen,Anne Bridgeman,Andrew Brown,Mary J. Brown,David Bonnin,Elspeth A. Bruford,Christian J. Buhay,Paula E. Burch,D C Burford,Joanne Burgess,Wayne Burrill,John Burton,Jackie Bye,C Carder,Laura Carrel,Joseph Chako,Joanne C Chapman,Dean Chavez,Ellson Y. Chen,Guan Chen,Yuan Chen,Zhijian J. Chen,Craig Chinault,Alfredo Ciccodicola,Sue Y Clark,Graham Clarke,Chris Clee,S. M. Clegg,Kerstin P. Clerc-Blankenburg,Karen Clifford,Vicky Cobley,Charlotte G. Cole,Jen S. Conquer,N Corby,Richard E Connor,Robert G. David,Joy Davies,Clay Davis,John M. Davis,Oliver Delgado,Denise R. DeShazo,Pawandeep Dhami,Yan Ding,Huyen Dinh,Steve Dodsworth,Heather R. Draper,Shannon Dugan-Rocha,Andrew Dunham,Matthew Dunn,K. James Durbin,Ireena Dutta,Tamsin Eades,Matthew Ellwood,Alexandra Emery-Cohen,Helen Errington,Kathryn L. Evans,Louisa Faulkner,Fiona Francis,John Frankland,Audrey Fraser,Petra Galgoczy,James G. R. Gilbert,Rachel Gill,Gernot Glöckner,Simon G. Gregory,Susan M. Gribble,C Griffiths,Russell J. Grocock,Yanghong Gu,Rhian Gwilliam,Cerissa Hamilton,E. Hart,Alicia Hawes,Paul Heath,Katja Heitmann,Steffen Hennig,Judith Hernandez,Bernd Hinzmann,Sarah Ho,Michael Hoffs,Phillip J Howden,Elizabeth J. Huckle,Jennifer Hume,Paul Hunt,Adrienne Hunt,Judith Isherwood,Leni S. Jacob,David W. Johnson,Sally Jones,Pieter J. de Jong,Shirin S. Joseph,Stephen Keenan,Susan H. Kelly,Joanne K Kershaw,Ziad Khan,Petra Kioschis,Sven Klages,Andrew J Knights,Anna Kosiura,Christie Kovar-Smith,Gavin K. Laird,Cordelia Langford,S Lawlor,Margaret A. Leversha,Lora Lewis,Wen Liu,Christine Lloyd,D. M. Lloyd,Hermela Loulseged,Jane E. Loveland,J Lovell,Ryan J. Lozado,Jing Lu,Rachael Lyne,Jie Ma,Manjula Maheshwari,Lucy Matthews,Jennifer McDowall,Stuart McLaren,Amanda McMurray,Patrick Meidl,Thomas Meitinger,Sarah Milne,George Miner,Shailesh L Mistry,Margaret Morgan,Sidney Morris,Ines Müller,James C. Mullikin,Ngoc Nguyen,Gabriele Nordsiek,Gerald Nyakatura,Christopher N O'Dell,Geoffery Okwuonu,Sophie Palmer,Richard Pandian,David Parker,Julia E. Parrish,Shiran Pasternak,Dina Patel,Alex V Pearce,D. Pearson,Sarah Pelan,Lesette Perez,K M Porter,Yvonne Ramsey,Kathrin Reichwald,Susan Rhodes,Kerry A Ridler,David Schlessinger,Mary G. Schueler,Harminder Sehra,Charles Shaw-Smith,Hua Shen,E Sheridan,Ratna Shownkeen,C. D. Skuce,Michelle Smith,Elizabeth C. Sotheran,Helen E. Steingruber,Charles A. Steward,Roy Storey,R Mark Swann,David Swarbreck,Paul E. Tabor,Stefan Taudien,Tineace Taylor,Brian Teague,Karen Thomas,Andrea Thorpe,Kirsten M. Timms,Alan Tracey,Steve Trevanion,A Tromans,Michele D'Urso,Daniel Verduzco,Donna Villasana,Lenee Waldron,Melanie M. Wall,Qiaoyan Wang,James T. Warren,Georgina Warry,Xuehong Wei,Anthony P. West,S. Whitehead,Mathew N Whiteley,Jane E. Wilkinson,David Willey,Gabrielle Williams,Leanne Williams,Angela Williamson,Helen Williamson,Laurens G. Wilming,Rebecca Woodmansey,Paul Wray,Jennifer Yen,Jingkun Zhang,Jianling Zhou,Huda Y. Zoghbi,Sara Zorilla,David Buck,Richard Reinhardt,Annemarie Poustka,André Rosenthal,Hans Lehrach,Alfons Meindl,Patrick Minx,LaDeana W. Hillier,Huntington F. Willard,Richard K. Wilson,Robert H. Waterston,Catherine M. Rice,M. Vaudin,Alan Coulson,David L. Nelson,George M. Weinstock,John Sulston,Richard Durbin,Tim Hubbard,Richard A. Gibbs,Stephan Beck,Jane Rogers,David R. Bentley +282 more
TL;DR: This analysis illustrates the autosomal origin of the mammalian sex chromosomes, the stepwise process that led to the progressive loss of recombination between X and Y, and the extent of subsequent degradation of the Y chromosome.
Journal ArticleDOI
Epstein-Barr virus: exploiting the immune system
TL;DR: Two genes encoded by the virus — LMP1 and LMP2A — allow EBV to exploit the normal pathways of B-cell differentiation so that the EBV-infected B blast can become a resting memory cell.
Journal ArticleDOI
Cellular responses to viral infection in humans: lessons from Epstein-Barr virus.
TL;DR: This experiment of nature provides a system to advance understanding of immunological homeostasis in humans, illustrating how data obtained from the study of EBV have wider significance to the immunological community.
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