Genomes and Genes
Reiner A Veitia
- Exploring the molecular etiology of dominant-negative mutationsReiner A Veitia
Université Denis Diderot Paris VII Unité de Formation et de Recherche Department of Biology, 75005 Paris, France
Plant Cell 19:3843-51. 2007
- Paralogs in polyploids: one for all and all for one?Reiner A Veitia
Universite Paris 7 Denis Diderot, Institut National de la Santé et de la, Recherche Médicale, E0021 Génomique, Fonctionelle du Développement, Paris, France
Plant Cell 17:4-11. 2005
- The robustness of the transcriptional response to alterations in morphogenetic gradientsReiner A Veitia
Université Denis Diderot Paris VII and INSERM U709 Université Paris V, France
Bioessays 28:282-9. 2006..Our results highlight how non-linearities can be a source of robustness and the crucial role of the inhibitor in the generation of a sharp and robust response...
- Amino acids runs and genomic compositional biases in vertebratesReiner A Veitia
Université Denis Diderot Paris VII, INSERM E0021 and U361, Reproduction et Physiopathologie Obstetricale, Hopital Cochin, Pavillon Baudelocque, 123 Boulevarde de Port Royal, 75014 Paris, France
Genomics 83:502-7. 2004..A comparison with human is undertaken...
- Stochasticity or the fatal 'imperfection' of cloningReiner A Veitia
Université Denis Diderot Paris VII, INSERM U361 Reproduction et Physiopathologie Obstetricale, Hospital Cochin, Pavillon Baudelocque, 123 Bd de Port Royal, 75014 Paris, France
J Biosci 30:21-30. 2005..Finally, to what extent fluctuations in biological processes, usually thought of as noise, are in fact signal is also discussed...
- One thousand and one ways of making functionally similar transcriptional enhancersReiner A Veitia
Institut Cochin, Département de Génétique et Développement, INSERM, Universite Paris, France
Bioessays 30:1052-7. 2008..This can be explained by the existence of intra-enhancer compensatory mutations and the presence of overlapping/near binding sites for activators and repressors...
- Cellular reactions to gene dosage imbalance: genomic, transcriptomic and proteomic effectsReiner A Veitia
INSERM U567, Team21 Genomics and Epigenetics of Placental Diseases, Genetics and Development Department, Institut Cochin, 75014 Paris, France
Trends Genet 24:390-7. 2008....
- Commonalities in fly embryogenesis and mammalian pituitary patterningReiner A Veitia
Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, Paris, France
Trends Endocrinol Metab 18:261-5. 2007..Variability in gene expression at territory boundaries might give rise to a poorly differentiated pool of cells, which could harbor stem-like properties. The ideas outlined here deserve further theoretical and experimental exploration...
- SUMOylation of the Forkhead transcription factor FOXL2 promotes its stabilization/activation through transient recruitment to PML bodiesAdrien Georges
Programme de Pathologie Moléculaire et Cellulaire, Institut Jacques Monod, UMR 7592 CNRS Université Paris Diderot, Paris, France
PLoS ONE 6:e25463. 2011..We and others have previously shown that FOXL2 undergoes several post-translational modifications...
- Whole genome duplications and a 'function' for junk DNA? Facts and hypothesesReiner A Veitia
CNRS UMR 7592, Institut Jacques Monod, Paris, France
PLoS ONE 4:e8201. 2009..However, it might have important functions. Generation of junk DNA depends on proliferation of selfish DNA elements and on local or global DNA duplication followed by genic non-functionalization...
- The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant allelesBérénice A Benayoun
INSERM U567, Team 21, Département de Génétique et Développement, Institut Cochin 75014, Paris, France
Hum Mol Genet 17:3118-27. 2008..Taken together, our results give mechanistic insights on the molecular pathogenesis of FOXL2 polyAlanine expansions...
- Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutationsBérénice A Benayoun
INSERM U567, Team 21, Department of Genetics and Development, Paris, France
Hum Mol Genet 18:632-44. 2009..Taken together, our results establish that FOXL2 is an actor of the stress response and provide new insights into the pathogenic consequences of FOXL2 mutations...
- Gene expression regulation in the context of mouse interspecific mosaic genomesDavid L'Hôte
U567 Department of Genetics and Development, Institut Cochin, INSERM, 24 rue du Faubourg St Jacques, Paris, 75014, France
Genome Biol 9:R133. 2008..To address this question, we have screened the testis transcriptome of interspecific recombinant congenic mouse strains (IRCSs) containing segments of Mus spretus origin at a homozygous state in a Mus musculus background...
- Interspecific resources: a major tool for quantitative trait locus cloning and speciation researchDavid L'Hôte
INSERM, U567, Institut Cochin, Paris, France
Bioessays 32:132-42. 2010..Therefore, we argue that interspecific resources may constitute a major genetic tool for positional cloning and for understanding some bases of speciation mechanisms...
- FOXL2: a central transcription factor of the ovaryAdrien Georges
CNRS UMR 7592, Institut Jacques Monod, 15 Rue Hélène Brion, 75013 Paris, France Université Paris Diderot, Paris VII, Paris, France
J Mol Endocrinol 52:R17-33. 2014..Despite the progresses made thus far, a better understanding of the impact of FOXL2 mutations and of the molecular aspects of its function is required to rationalise its implication in various pathophysiological processes. ..
- Functional exploration of the adult ovarian granulosa cell tumor-associated somatic FOXL2 mutation p.Cys134Trp (c.402C>G)Bérénice A Benayoun
Programme de Pathologie Moléculaire et Cellulaire, Institut Jacques Monod, Paris, France
PLoS ONE 5:e8789. 2010..In addition, this mutation seems to be specific to adult OGCTs and is likely to be a driver of malignant transformation. However, its pathogenic mechanisms remain elusive...
- Allelic reduction of Dlx5 and Dlx6 results in early follicular depletion: a new mouse model of primary ovarian insufficiencyKamal Bouhali
Evolution des Regulations Endocriniennes, CNRS UMR 7221, Museum national d histoire naturelle, Paris, France
Hum Mol Genet 20:2642-50. 2011..Our results bring new elements to our conceptual model of follicle maturation and maintenance and provide new potential genetic targets for cases of familial POI...
- Differential aggregation and functional impairment induced by polyalanine expansions in FOXL2, a transcription factor involved in cranio-facial and ovarian developmentLara Moumné
Department of Genetics and Development, INSERM U567, Team21 Genomics and Epigenetics of Placental Diseases, Paris, France
Hum Mol Genet 17:1010-9. 2008....
- Preservation of genes involved in sterol metabolism in cholesterol auxotrophs: facts and hypothesesGiovanna Vinci
Département de Génétique et Développement Inserm, Faculté de Médecine Paris Descartes, Institut Cochin, U567, CNRS, UMR 8104, Universite Paris 5, UM 3, Paris, France
PLoS ONE 3:e2883. 2008..However, we provide evidence for a preservation of the corresponding genes in two animals unable to synthesize cholesterol (auxotrophs): Drosophila melanogaster and Caenorhabditis elegans...
- Gene dosage effects: nonlinearities, genetic interactions, and dosage compensationReiner A Veitia
Centre National de la Recherche Scientifique, UMR7592, Institut Jacques Monod, Paris, France
Trends Genet 29:385-93. 2013..Understanding these issues is critical to understanding why an individual bearing a few damaging mutations can be severely diseased, whereas others harboring tens of potentially deleterious mutations can appear quite healthy. ..
- Generic binding sites, generic DNA-binding domains: where does specific promoter recognition come from?Adrien B Georges
Unité Mixte de Recherche 7592 Centre National de la Recherche Scientifique, Institut Jacques Monod, Paris, France
FASEB J 24:346-56. 2010....
- Recent advances in the study of genes involved in non-syndromic premature ovarian failurePaul Laissue
Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, Paris, France INSERM, U567 Paris, France
Mol Cell Endocrinol 282:101-11. 2008..Here, we review recent advances in the study of candidate genes...
- Dynamics of the subcellular localization of RalBP1/RLIP through the cell cycle: the role of targeting signals and of protein-protein interactionsJonathan Fillatre
Mécanismes Moléculaires du Développement, Institut Jacques Monod, CNRS, UMR 7592, Universite Paris Diderot, Sorbonne Paris Cité 15, rue Hélène Brion 75205 Paris, France
FASEB J 26:2164-74. 2012..Finally, we demonstrate the presence of post-transcriptional and post-translational isoforms of RalBP1 lacking the Ral-binding domain, which opens new possibilities for the existence of Ral-independent functions...
- Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian FailureSandrine Caburet
Institut Jacques Monod, Universite Denis Diderot, CNRS UMR7592, Paris, France
PLoS ONE 7:e33412. 2012..A majority of POF cases are sporadic, but 10-15% are familial, suggesting a genetic origin of the disease. Although several causal mutations have been identified, the etiology of POF is still unknown for about 90% of the patients...
- Partial defects in transcriptional activity of two novel DAX-1 mutations in childhood-onset adrenal hypoplasia congenitaPaul Laissue
U567 INSERM and Université Denis Diderot Paris VII, Paris, France
Clin Endocrinol (Oxf) 65:681-6. 2006..We aimed at analysing their effects on protein localization, transcriptional activity and propose a structural-function relationship...
- The post-translational modification profile of the forkhead transcription factor FOXL2 suggests the existence of parallel processive/concerted modification pathwaysBérénice A Benayoun
INSERM U567, Team21, Genetics and Development Department, Institut Cochin, Paris, France
Proteomics 8:3118-23. 2008..The absence of intermediates is compatible with the recruitment of poorly modified FOXL2 into a post-translational "modification factory."..
- Dominant negative factors in health and diseaseReiner A Veitia
Institut Jacques Monod, CNRS UMR 7592, Batiment Buffon, 15 Rue Hélène Brion, Paris Cedex 13, France
J Pathol 218:409-18. 2009..Finally, the existence and potential relevance of an increasing number of physiological DN protein isoforms is briefly discussed...
- Dominance and gene dosage balance in health and disease: why levels matter!Reiner A Veitia
Institut Jacques Monod, CNRS UMR 7592, Batiment Buffon, Paris Cedex 13, France
J Pathol 220:174-85. 2010....
- FOXL2 versus SOX9: a lifelong "battle of the sexes"Reiner A Veitia
Institut Jacques Monod, CNRS UMR 7592, Batiment Buffon, Paris Cedex, France
Bioessays 32:375-80. 2010..These studies bring many answers to the field of gonadal determination, differentiation and maintenance, but also open many questions...
- Molecular analyses of juvenile granulosa cell tumors bearing AKT1 mutations provide insights into tumor biology and therapeutic leadsAurelie Auguste
Institut Jacques Monod, Universite Paris Diderot, CNRS UMR7592, Paris 75013, France, Faculty of Biological Sciences, Université Paris Diderot Paris VII, 75205 Paris, France
Hum Mol Genet 24:6687-98. 2015..Finally, we show that commercially available AKT inhibitors can modulate the in vitro activity of various mutated forms. These results shed light on the pathogenesis of JGCTs and provide therapeutic leads for a targeted treatment. ..
- Combined comparative genomic hybridization and transcriptomic analyses of ovarian granulosa cell tumors point to novel candidate driver genesSandrine Caburet
Institut Jacques Monod, Paris, France
BMC Cancer 15:251. 2015..Its pervasive presence suggests that FOXL2 is the main cancer driver gene. However, other mutations and genomic changes might also contribute to tumor formation and/or progression...
- Potential targets of FOXL2, a transcription factor involved in craniofacial and follicular development, identified by transcriptomicsFrank Batista
Institut National de la Sante et de la Recherche Medicale U567, Centre National de la Recherche Scientifique Unite Mixte de Recherche 8104, and Faculté de Médecine René Descartes, Université Paris V UM 3, 75014 Paris, France
Proc Natl Acad Sci U S A 104:3330-5. 2007..Altogether, these results provide insight into the activity of FOXL2 and may help in understanding the mechanisms of pathogenesis of FOXL2 mutations if the targets prove to be the same in the ovary...
- A sigmoidal transcriptional response: cooperativity, synergy and dosage effectsReiner A Veitia
UFR de Biologie et Sciences de la Nature, Université Denis Diderot Paris VII, France
Biol Rev Camb Philos Soc 78:149-70. 2003..Although a formal proof linking HI and a sigmoidal response is lacking, it is tempting to explore the model from the perspective of dosage effects...
- A genomic basis for the evolution of vertebrate transcription factors containing amino Acid runsSandrine Caburet
INSERM E0021 Génomique et Développement, IFR Alfred Jost, Hopital Cochin, 75014 Paris, France
Genetics 167:1813-20. 2004....
- Reverse transcriptase template switching and false alternative transcriptsJulie Cocquet
INSERM U709, Hopital Cochin, Pavillon Baudelocque, 123 Bd de Port Royal, 75014 Paris, France
Genomics 88:127-31. 2006..However, care should be taken in the annotation of alternative transcripts, especially when the RT used is poorly thermostable and when the putative intron is flanked by direct repeats, which are the substrate for template switching...
- Extensive sequence turnover of the signal peptides of members of the GDF/BMP family: exploring their evolutionary landscapeReiner A Veitia
Institut Jacques Monod, UMR 8104, CNRS, Paris, France
Biol Direct 4:22. 2009..Some of these signal sequences highlight an apparent paradox: they are encoded, by definition, by orthologous DNA segments but they are, given their striking divergence, examples of what can be called functional convergence...
- A generalized model of gene dosage and dominant negative effects in macromolecular complexesReiner A Veitia
Institut Jacques Monod, Unite Mixte de Recherche 7592, Centre National de la Recherche Scientifique, and Université Paris Diderot Paris 7, Paris, France
FASEB J 24:994-1002. 2010..This situation has important evolutionary consequences and may eventually lead to reproductive isolation and speciation.-Veitia, R. A. A generalized model of gene dosage and dominant negative effects in macromolecular complexes...
- X chromosome inactivation and active X upregulation in therian mammals: facts, questions, and hypothesesReiner A Veitia
Institut Jacques Monod, Paris, France Université Paris Diderot, Paris, France
J Mol Cell Biol 7:2-11. 2015..However, they have confirmed the importance of dosage balance between X-linked and autosomal genes involved in stoichiometric relationships. These facts as well as questions and hypotheses are discussed below. ..
- Transcription factors: specific DNA binding and specific gene regulationAnne Laure Todeschini
Institut Jacques Monod, Paris, France Université Paris Diderot, Paris, France
Trends Genet 30:211-9. 2014..Here, we explore the various ways in which TFs recognizing similar consensus sites distinguish their own targets from a large number of other sequences to ensure specific cellular responses. ..
- Why preeclampsia still exists?Sonia T Chelbi
Inserm U1016, Institut Cochin, Paris, France CNRS, UMR8104, Paris, France
Med Hypotheses 81:259-63. 2013....
- A regulatory domain is required for Foxn4 activity during retinogenesisElise C Lelièvre
Centre de Recherche des Cordeliers, INSERM UMR S872, 15, rue de l Ecole de Medecine, 75006, Paris, France
J Mol Neurosci 46:315-23. 2012..Thus, our study demonstrates that the domain between amino acids 402 and 455 is necessary for Foxn4 transcriptional activity both in vitro and in the retina...
- Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failurePaul Laissue
INSERM 709, Genomics and Epigenetics of Placentary Pathology, Hopital Cochin, Pavillon Baudelocque, 123 Bd de Port Royal, 75014, Paris, France
Eur J Endocrinol 154:739-44. 2006..In the human, a heterozygous point mutation of BMP15 has been associated with premature ovarian failure (POF)...
- Compositional biases and polyalanine runs in humansJulie Cocquet
INSERM E0021 and U361, Reproduction et Physiopathologie Obstetricale, Hopital Cochin, 75014 Paris, France
Genetics 165:1613-7. 2003....
- Sense and antisense Foxl2 transcripts in mouseJulie Cocquet
INSERM E0021 and U361, Hopital Cochin, Pavillon Baudelocque, 123 Boulevard de Port Royal, 75014 Paris, France
Genomics 85:531-41. 2005..All in all our results provide new insights about the organization of the murine Foxl2 locus. This might help us understand its regulation and function...
- Models of buffering of dosage imbalances in protein complexesReiner A Veitia
Institut Jacques Monod, 15 Rue Hélène Brion, 75013, Paris, France
Biol Direct 10:42. 2015..In some cases, the phenotypic perturbations induced by such alterations can be subtle or be lacking because nonlinearities in the process of protein complex assembly can provide some degree of buffering...
- Synthetic lethals in HIV: ways to avoid drug resistance : Running title: Preventing HIV resistanceMichel Petitjean
Univ Paris Diderot, Sorbonne Paris Cité, F 75013, Paris, France
Biol Direct 10:17. 2015..This principle can also be used against fast-evolving RNA-viruses. Indeed, targeting protein sites involved in SD + SL interactions with a drug would render any mutation of such sites, lethal...
- Nonlinear effects in macromolecular assembly and dosage sensitivityReiner A Veitia
UFR de Biologie et Sciences de la Nature, Université Denis Diderot Paris VII, Paris, France
J Theor Biol 220:19-25. 2003..Other effects involving cooperativity or sequential assembly may also play a role in palliating the effect of changes in input amounts of monomers...
- The forkhead factor FOXL2: a novel tumor suppressor?Bérénice A Benayoun
Institut Jacques Monod, UMR 7592 CNRS, 15 Rue Hélène Brion, Paris, France
Biochim Biophys Acta 1805:1-5. 2010..Indeed, an in-depth review of existing data on FOXL2 reveals that its target genes and molecular partners can often be linked to cancer progression...
- Exploring the etiology of haploinsufficiencyReiner A Veitia
UFR de Biologie et Sciences de la Nature, Universite Denis Diderot, Paris VII Immunogeénétique Humaine, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris, France
Bioessays 24:175-84. 2002..This article is certainly another preliminary exploration of the complex matters of HI, which remain an intellectual challenge from many points of view...
- Gene dosage balance in cellular pathways: implications for dominance and gene duplicabilityReiner A Veitia
Genetics 168:569-74. 2004
- Dosage balance in gene regulation: biological implicationsJames A Birchler
Division of Biological Sciences, 117 Tucker Hall, University of Missouri, Columbia, MO 65211 7400, USA
Trends Genet 21:219-26. 2005..In this article, we discuss the potential contribution of regulatory balance to the control of quantitative traits, hybrid vigor, genome evolution and post-zygotic speciation mechanisms...
- Coding repeats and evolutionary "agility"Sandrine Caburet
Inserm U709 Paris, France
Bioessays 27:581-7. 2005..In particular, they found that the repeat variations in two genes were significantly associated with changes in limb and skull morphology. These results open the possibility that such a mechanism contributes to the diversity of life...
- Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregationLara Moumné
INSERM U709 Génomique et Epigénétique des Pathologies Placentaires and Universités Paris V and VII, Paris 75014, France
Hum Mol Genet 14:3557-64. 2005..We also show that a complete deletion of the polyAla tract of FOXL2 induces a significant intranuclear aggregation. Our results enlarge the spectrum of mutations inducing FOXL2 aggregation...
- Rosetta Stone proteins: "chance and necessity"?Reiner A Veitia
Genome Biol 3:INTERACTIONS1001. 2002
- The gene balance hypothesis: from classical genetics to modern genomicsJames A Birchler
Division of Biological Sciences, University of Missouri, Columbia, MO 65211, USA
Plant Cell 19:395-402. 2007
- A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunctionJeyabalan Nallathambi
Department of Genetics, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, India
Hum Genet 121:107-12. 2007..This is the first study providing genetic evidence for a recessive inheritance of BPES associated with ovarian dysfunction...
- Gene dosage balance: deletions, duplications and dominanceReiner A Veitia
Trends Genet 21:33-5. 2005