Literature DB >> 25814441

Drosophila and experimental neurology in the post-genomic era.

Joshua M Shulman1.   

Abstract

For decades, the fruit fly, Drosophila melanogaster, has been among the premiere genetic model systems for probing fundamental neurobiology, including elucidation of mechanisms responsible for human neurologic disorders. Flies continue to offer virtually unparalleled versatility and speed for genetic manipulation, strong genomic conservation, and a nervous system that recapitulates a range of cellular and network properties relevant to human disease. I focus here on four critical challenges emerging from recent advances in our understanding of the genomic basis of human neurologic disorders where innovative experimental strategies are urgently needed: (1) pinpointing causal genes from associated genomic loci; (2) confirming the functional impact of allelic variants; (3) elucidating nervous system roles for novel or poorly studied genes; and (4) probing network interactions within implicated regulatory pathways. Drosophila genetic approaches are ideally suited to address each of these potential translational roadblocks, and will therefore contribute to mechanistic insights and potential breakthrough therapies for complex genetic disorders in the coming years. Strategic collaboration between neurologists, human geneticists, and the Drosophila research community holds great promise to accelerate progress in the post-genomic era.
Copyright © 2015 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Animal model; Complex genetics; Drosophila melanogaster; Epistasis; Exome sequencing; Genome-wide association study; Genomics; Mendelian disease; Neurology

Mesh:

Substances:

Year:  2015        PMID: 25814441      PMCID: PMC4962325          DOI: 10.1016/j.expneurol.2015.03.016

Source DB:  PubMed          Journal:  Exp Neurol        ISSN: 0014-4886            Impact factor:   5.330


  82 in total

1.  A model for studying Alzheimer's Abeta42-induced toxicity in Drosophila melanogaster.

Authors:  Alyce Finelli; Anju Kelkar; Ho-Juhn Song; Haidi Yang; Mary Konsolaki
Journal:  Mol Cell Neurosci       Date:  2004-07       Impact factor: 4.314

Review 2.  Research resources for Drosophila: the expanding universe.

Authors:  Kathleen A Matthews; Thomas C Kaufman; William M Gelbart
Journal:  Nat Rev Genet       Date:  2005-03       Impact factor: 53.242

3.  Sleep fragmentation and motor restlessness in a Drosophila model of Restless Legs Syndrome.

Authors:  Amanda Freeman; Elaine Pranski; R Daniel Miller; Sara Radmard; Doug Bernhard; H A Jinnah; Ranjita Betarbet; David B Rye; Subhabrata Sanyal
Journal:  Curr Biol       Date:  2012-05-31       Impact factor: 10.834

4.  dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations.

Authors:  Xiaoming Liu; Xueqiu Jian; Eric Boerwinkle
Journal:  Hum Mutat       Date:  2013-07-10       Impact factor: 4.878

5.  The Drosophila melanogaster Genetic Reference Panel.

Authors:  Trudy F C Mackay; Stephen Richards; Eric A Stone; Antonio Barbadilla; Julien F Ayroles; Dianhui Zhu; Sònia Casillas; Yi Han; Michael M Magwire; Julie M Cridland; Mark F Richardson; Robert R H Anholt; Maite Barrón; Crystal Bess; Kerstin Petra Blankenburg; Mary Anna Carbone; David Castellano; Lesley Chaboub; Laura Duncan; Zeke Harris; Mehwish Javaid; Joy Christina Jayaseelan; Shalini N Jhangiani; Katherine W Jordan; Fremiet Lara; Faye Lawrence; Sandra L Lee; Pablo Librado; Raquel S Linheiro; Richard F Lyman; Aaron J Mackey; Mala Munidasa; Donna Marie Muzny; Lynne Nazareth; Irene Newsham; Lora Perales; Ling-Ling Pu; Carson Qu; Miquel Ràmia; Jeffrey G Reid; Stephanie M Rollmann; Julio Rozas; Nehad Saada; Lavanya Turlapati; Kim C Worley; Yuan-Qing Wu; Akihiko Yamamoto; Yiming Zhu; Casey M Bergman; Kevin R Thornton; David Mittelman; Richard A Gibbs
Journal:  Nature       Date:  2012-02-08       Impact factor: 49.962

6.  Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.

Authors:  Adam C Naj; Gyungah Jun; Gary W Beecham; Li-San Wang; Badri Narayan Vardarajan; Jacqueline Buros; Paul J Gallins; Joseph D Buxbaum; Gail P Jarvik; Paul K Crane; Eric B Larson; Thomas D Bird; Bradley F Boeve; Neill R Graff-Radford; Philip L De Jager; Denis Evans; Julie A Schneider; Minerva M Carrasquillo; Nilufer Ertekin-Taner; Steven G Younkin; Carlos Cruchaga; John S K Kauwe; Petra Nowotny; Patricia Kramer; John Hardy; Matthew J Huentelman; Amanda J Myers; Michael M Barmada; F Yesim Demirci; Clinton T Baldwin; Robert C Green; Ekaterina Rogaeva; Peter St George-Hyslop; Steven E Arnold; Robert Barber; Thomas Beach; Eileen H Bigio; James D Bowen; Adam Boxer; James R Burke; Nigel J Cairns; Chris S Carlson; Regina M Carney; Steven L Carroll; Helena C Chui; David G Clark; Jason Corneveaux; Carl W Cotman; Jeffrey L Cummings; Charles DeCarli; Steven T DeKosky; Ramon Diaz-Arrastia; Malcolm Dick; Dennis W Dickson; William G Ellis; Kelley M Faber; Kenneth B Fallon; Martin R Farlow; Steven Ferris; Matthew P Frosch; Douglas R Galasko; Mary Ganguli; Marla Gearing; Daniel H Geschwind; Bernardino Ghetti; John R Gilbert; Sid Gilman; Bruno Giordani; Jonathan D Glass; John H Growdon; Ronald L Hamilton; Lindy E Harrell; Elizabeth Head; Lawrence S Honig; Christine M Hulette; Bradley T Hyman; Gregory A Jicha; Lee-Way Jin; Nancy Johnson; Jason Karlawish; Anna Karydas; Jeffrey A Kaye; Ronald Kim; Edward H Koo; Neil W Kowall; James J Lah; Allan I Levey; Andrew P Lieberman; Oscar L Lopez; Wendy J Mack; Daniel C Marson; Frank Martiniuk; Deborah C Mash; Eliezer Masliah; Wayne C McCormick; Susan M McCurry; Andrew N McDavid; Ann C McKee; Marsel Mesulam; Bruce L Miller; Carol A Miller; Joshua W Miller; Joseph E Parisi; Daniel P Perl; Elaine Peskind; Ronald C Petersen; Wayne W Poon; Joseph F Quinn; Ruchita A Rajbhandary; Murray Raskind; Barry Reisberg; John M Ringman; Erik D Roberson; Roger N Rosenberg; Mary Sano; Lon S Schneider; William Seeley; Michael L Shelanski; Michael A Slifer; Charles D Smith; Joshua A Sonnen; Salvatore Spina; Robert A Stern; Rudolph E Tanzi; John Q Trojanowski; Juan C Troncoso; Vivianna M Van Deerlin; Harry V Vinters; Jean Paul Vonsattel; Sandra Weintraub; Kathleen A Welsh-Bohmer; Jennifer Williamson; Randall L Woltjer; Laura B Cantwell; Beth A Dombroski; Duane Beekly; Kathryn L Lunetta; Eden R Martin; M Ilyas Kamboh; Andrew J Saykin; Eric M Reiman; David A Bennett; John C Morris; Thomas J Montine; Alison M Goate; Deborah Blacker; Debby W Tsuang; Hakon Hakonarson; Walter A Kukull; Tatiana M Foroud; Jonathan L Haines; Richard Mayeux; Margaret A Pericak-Vance; Lindsay A Farrer; Gerard D Schellenberg
Journal:  Nat Genet       Date:  2011-04-03       Impact factor: 38.330

7.  The PINK1/Parkin pathway regulates mitochondrial morphology.

Authors:  Angela C Poole; Ruth E Thomas; Laurie A Andrews; Heidi M McBride; Alexander J Whitworth; Leo J Pallanck
Journal:  Proc Natl Acad Sci U S A       Date:  2008-01-29       Impact factor: 11.205

8.  Targeted gene expression as a means of altering cell fates and generating dominant phenotypes.

Authors:  A H Brand; N Perrimon
Journal:  Development       Date:  1993-06       Impact factor: 6.868

9.  FlyBase 102--advanced approaches to interrogating FlyBase.

Authors:  Susan E St Pierre; Laura Ponting; Raymund Stefancsik; Peter McQuilton
Journal:  Nucleic Acids Res       Date:  2013-11-13       Impact factor: 16.971

10.  Versatile P[acman] BAC libraries for transgenesis studies in Drosophila melanogaster.

Authors:  Koen J T Venken; Joseph W Carlson; Karen L Schulze; Hongling Pan; Yuchun He; Rebecca Spokony; Kenneth H Wan; Maxim Koriabine; Pieter J de Jong; Kevin P White; Hugo J Bellen; Roger A Hoskins
Journal:  Nat Methods       Date:  2009-06       Impact factor: 28.547

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  5 in total

1.  Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.

Authors:  Yu-Hsin Chao; Laurie A Robak; Fan Xia; Mary K Koenig; Adekunle Adesina; Carlos A Bacino; Fernando Scaglia; Hugo J Bellen; Michael F Wangler
Journal:  Hum Mol Genet       Date:  2016-02-29       Impact factor: 6.150

2.  Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease.

Authors:  Johanna Jakobsdottir; Sven J van der Lee; Joshua C Bis; Vincent Chouraki; David Li-Kroeger; Shinya Yamamoto; Megan L Grove; Adam Naj; Maria Vronskaya; Jose L Salazar; Anita L DeStefano; Jennifer A Brody; Albert V Smith; Najaf Amin; Rebecca Sims; Carla A Ibrahim-Verbaas; Seung-Hoan Choi; Claudia L Satizabal; Oscar L Lopez; Alexa Beiser; M Arfan Ikram; Melissa E Garcia; Caroline Hayward; Tibor V Varga; Samuli Ripatti; Paul W Franks; Göran Hallmans; Olov Rolandsson; Jan-Håkon Jansson; David J Porteous; Veikko Salomaa; Gudny Eiriksdottir; Kenneth M Rice; Hugo J Bellen; Daniel Levy; Andre G Uitterlinden; Valur Emilsson; Jerome I Rotter; Thor Aspelund; Christopher J O'Donnell; Annette L Fitzpatrick; Lenore J Launer; Albert Hofman; Li-San Wang; Julie Williams; Gerard D Schellenberg; Eric Boerwinkle; Bruce M Psaty; Sudha Seshadri; Joshua M Shulman; Vilmundur Gudnason; Cornelia M van Duijn
Journal:  PLoS Genet       Date:  2016-10-20       Impact factor: 5.917

3.  Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.

Authors:  Iris E Jansen; Hui Ye; Sasja Heetveld; Marie C Lechler; Helen Michels; Renée I Seinstra; Steven J Lubbe; Valérie Drouet; Suzanne Lesage; Elisa Majounie; J Raphael Gibbs; Mike A Nalls; Mina Ryten; Juan A Botia; Jana Vandrovcova; Javier Simon-Sanchez; Melissa Castillo-Lizardo; Patrizia Rizzu; Cornelis Blauwendraat; Amit K Chouhan; Yarong Li; Puja Yogi; Najaf Amin; Cornelia M van Duijn; Huw R Morris; Alexis Brice; Andrew B Singleton; Della C David; Ellen A Nollen; Shushant Jain; Joshua M Shulman; Peter Heutink
Journal:  Genome Biol       Date:  2017-01-30       Impact factor: 13.583

Review 4.  Drosophila and genome-wide association studies: a review and resource for the functional dissection of human complex traits.

Authors:  Michael F Wangler; Yanhui Hu; Joshua M Shulman
Journal:  Dis Model Mech       Date:  2017-02-01       Impact factor: 5.758

5.  Functional screening of Alzheimer risk loci identifies PTK2B as an in vivo modulator and early marker of Tau pathology.

Authors:  P Dourlen; F J Fernandez-Gomez; C Dupont; B Grenier-Boley; C Bellenguez; H Obriot; R Caillierez; Y Sottejeau; J Chapuis; A Bretteville; F Abdelfettah; C Delay; N Malmanche; H Soininen; M Hiltunen; M-C Galas; P Amouyel; N Sergeant; L Buée; J-C Lambert; B Dermaut
Journal:  Mol Psychiatry       Date:  2016-04-26       Impact factor: 15.992

  5 in total

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