3 results on '"Wattenhofer-Donze, M"'
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2. Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics
- Author
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Hrabe de Angelis, M. (M), Nicholson, G. (G), Selloum, M. (Mohammed), White, J. (J) K. (K), Morgan, H. (H), Ramirez-Solis, R. (R), Sorg, T. (Tania), Wells, S. (S), Fuchs, H. (H), Fray, M. (M), Adams, D. (D) J. (J), Adams, N. (N) C. (C), Adler, T. (T), Aguilar-Pimentel, A. (A), Ali-Hadji, D. (Dalila), Amann, G. (Grégory), Andre, P. (Philippe), Atkins, S. (S), Auburtin, A. (Aurélie), Ayadi, A. (Abdelkader), Becker, J. (Julien), Becker, L. (L), Bedu, E. (Elodie), Bekeredjian, R. (R), Birling, M. (Marie-Christine), Blake, A. (A), Bottomley, J. (J), Bowl, M. (M) R. (R), Brault, V. (Véronique), Busch, D. (D) H. (H), Bussell, J. (J) N. (N), Calzada-Wack, J. (J), Cater, H. (H), Champy, M. (Marie-France), Charles, P. (Philippe), Chevalier, C. (Claire), Chiani, F. (F), Codner, G. (G) F. (F), Combe, R. (R), Cox, R. (R), Dalloneau, E. (E), Dierich, A. (A), Di Fenza, A. (A), Doe, B. (B), Duchon, A. (Arnaud), Eickelberg, O. (O), Esapa, C. (C) T. (T), Fertak, L. (L) E. (E), Feigel, T. (T), Emelyanova, I. (I), Estabel, J. (J), Favor, J. (J), Flenniken, A. (A), Gambadoro, A. (A), Garrett, L. (L), Gates, H. (H), Gerdin, A. (A) K. (K), Gkoutos, G. (G), Greenaway, S. (S), Glasl, L. (L), Goetz, P. (P), Da Cruz, I. (I) G. (G), Gotz, A. (A), Graw, J. (J), Guimond, A. (Alain), Hans, W. (W), Hicks, G. (G), Holter, S. (S) M. (M), Hofler, H. (H), Hancock, J. (J) M. (M), Hoehndorf, R. (R), Hough, T. (T), Houghton, R. (R), Hurt, A. (A), Ivandic, B. (B), Jacobs, H. (Hugues), Jacquot, S. (Sylvie), Jones, N. (N), Karp, N. (N) A. (A), Katus, H. (H) A. (A), Kitchen, S. (S), Klein-Rodewald, T. (T), Klingenspor, M. (M), Klopstock, T. (T), Lalanne, V. (Valérie), Leblanc, S. (Sophie), Lengger, C. (C), le Marchand, E. (Elise), Ludwig, T. (T), Lux, A. (Aline), McKerlie, C. (C), Maier, H. (H), Mandel, J. (Jean-Louis), Marschall, S. (S), Mark, M. (Manuel), Melvin, D. (D) G. (G), Meziane, H. (Hamid), Micklich, K. (K), Mittelhauser, C. (C), Monassier, L. (Laurent), Moulaert, D. (David), Muller, S. (Stéphanie), Naton, B. (B), Neff, F. (F), Nolan, P. (P) M. (M), Nutter, L. (L) M. (M), Ollert, M. (M), Pavlovic, G. (Guillaume), Pellegata, N. (N) S. (S), Peter, E. (E), Petit-Demouliere, B. (Benoît), Pickard, A. (A), Podrini, C. (C), Potter, P. (P), Pouilly, L. (Laurent), Puk, O. (O), Richardson, D. (D), Rousseau, S. (Stéphane), Quintanilla-Fend, L. (L), Quwailid, M. (M) M. (M), Racz, I. (I), Rathkolb, B. (B), Riet, F. (Fabrice), Rossant, J. (J), Roux, M. (Michel), Rozman, J. (J), Ryder, E. (E), Salisbury, J. (J), Santos, L. (L), Schable, K. (K) H. (H), Schiller, E. (E), Schrewe, A. (A), Schulz, H. (H), Steinkamp, R. (R), Simon, M. (M), Stewart, M. (M), Stoger, C. (C), Stoger, T. (T), Sun, M. (M), Sunter, D. (D), Teboul, L. (L), Tilly, I. (I), Tocchini-Valentini, G. (G) P. (P), Tost, M. (M), Treise, I. (I), Vasseur, L. (Laurent), Velot, E. (E), Vogt-Weisenhorn, D. (D), Wagner, C. (Christel), Walling, A. (A), Wattenhofer-Donze, M. (Marie), Weber, B. (Bruno), Wendling, O. (Olivia), Westerberg, H. (H), Willershauser, M. (M), Wolf, E. (E), Wolter, A. (A), Wood, J. (J), Wurst, W. (W), Yildirim, A. (A) O. (O), Zeh, R. (R), Zimmer, A. (A), Zimprich, A. (A), Consortium, E. (Eumodic), Holmes, C. (C), Steel, K. (K) P. (P), Herault, Y. (Yann), Gailus-Durner, V. (V), Mallon, A. (A) M. (M), and Brown, S. (S) D. (D)
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Genetics ,Male ,Mice, Knockout ,Heterozygote ,Mutant ,Homozygote ,Aucun ,Molecular Sequence Annotation ,Biology ,Phenotype ,Mice, Inbred C57BL ,Pleiotropy ,ddc:570 ,Mutation ,Animals ,Humans ,Human genome ,Female ,Allele ,Gene ,Gene knockout ,Genetic Association Studies - Abstract
The function of the majority of genes in the mouse and human genomes remains unknown. The mouse embryonic stem cell knockout resource provides a basis for the characterization of relationships between genes and phenotypes. The EUMODIC consortium developed and validated robust methodologies for the broad-based phenotyping of knockouts through a pipeline comprising 20 disease-oriented platforms. We developed new statistical methods for pipeline design and data analysis aimed at detecting reproducible phenotypes with high power. We acquired phenotype data from 449 mutant alleles, representing 320 unique genes, of which half had no previous functional annotation. We captured data from over 27,000 mice, finding that 83% of the mutant lines are phenodeviant, with 65% demonstrating pleiotropy. Surprisingly, we found significant differences in phenotype annotation according to zygosity. New phenotypes were uncovered for many genes with previously unknown function, providing a powerful basis for hypothesis generation and further investigation in diverse systems. Comment in : Genetic differential calculus. [Nat Genet. 2015] Comment in : Scaling up phenotyping studies. [Nat Biotechnol. 2015]
- Published
- 2015
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3. Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.
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Sellier C, Buijsen RAM, He F, Natla S, Jung L, Tropel P, Gaucherot A, Jacobs H, Meziane H, Vincent A, Champy MF, Sorg T, Pavlovic G, Wattenhofer-Donze M, Birling MC, Oulad-Abdelghani M, Eberling P, Ruffenach F, Joint M, Anheim M, Martinez-Cerdeno V, Tassone F, Willemsen R, Hukema RK, Viville S, Martinat C, Todd PK, and Charlet-Berguerand N
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- Animals, Ataxia metabolism, Brain metabolism, Brain pathology, Fragile X Mental Retardation Protein metabolism, Fragile X Syndrome metabolism, Humans, Male, Mice, Mice, Transgenic, Nuclear Lamina pathology, Peptides metabolism, Real-Time Polymerase Chain Reaction, Tremor metabolism, Ataxia genetics, DNA-Binding Proteins metabolism, Fragile X Mental Retardation Protein genetics, Fragile X Syndrome genetics, Membrane Proteins metabolism, Nuclear Lamina metabolism, Peptides genetics, Protein Biosynthesis, RNA, Messenger metabolism, Tremor genetics, Trinucleotide Repeat Expansion genetics
- Abstract
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a limited expansion of CGG repeats in the 5' UTR of FMR1. Two mechanisms are proposed to cause FXTAS: RNA gain-of-function, where CGG RNA sequesters specific proteins, and translation of CGG repeats into a polyglycine-containing protein, FMRpolyG. Here we developed transgenic mice expressing CGG repeat RNA with or without FMRpolyG. Expression of FMRpolyG is pathogenic, while the sole expression of CGG RNA is not. FMRpolyG interacts with the nuclear lamina protein LAP2β and disorganizes the nuclear lamina architecture in neurons differentiated from FXTAS iPS cells. Finally, expression of LAP2β rescues neuronal death induced by FMRpolyG. Overall, these results suggest that translation of expanded CGG repeats into FMRpolyG alters nuclear lamina architecture and drives pathogenesis in FXTAS., (Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.)
- Published
- 2017
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