Reference : Sesn1 is a novel gene for left-right asymmetry and mediating nodal signaling.
Scientific journals : Article
Life sciences : Biochemistry, biophysics & molecular biology
http://hdl.handle.net/2268/73293
Sesn1 is a novel gene for left-right asymmetry and mediating nodal signaling.
English
Peeters, Hilde [Flanders Interuniversity Institute for Biotechnology and Laboratory of Molecular Biology > Department of Human Genetics > Clinical Genetics Unit > >]
Voz, Marianne mailto [Université de Liège - ULg > Département des sciences de la vie > GIGA-R : Biologie et génétique moléculaire > >]
Verschueren, Kristin [Flanders Interuniversity Institute for Biotechnology and Laboratory of Molecular Biology > Department of Developmental Biology > > >]
De Cat, Bart [University of Leuven > Department of Human Genetics, Molecular Genetics Section > Laboratory of Glycobiology and Developmental Genetics > >]
Pendeville, Helene mailto [Université de Liège - ULg > Département des sciences de la vie > GIGA-R : Biologie et génétique moléculaire > >]
Thienpont, Bernard [Flanders Interuniversity Institute for Biotechnology and Laboratory of Molecular Biology > Department of Human Genetics > Clinical Genetics Unit > >]
Schellens, Ann [Flanders Interuniversity Institute for Biotechnology and Laboratory of Molecular Biology > Department of Developmental Biology > > >]
Belmont, John W [Baylor College of Medicine > Department of Molecular and Human Genetics > > >]
David, Guido [University of Leuven > Department of Human Genetics, Molecular Genetics Section > Laboratory of Glycobiology and Developmental Genetics, > >]
Van De Ven, Wim J M [Flanders Interuniversity Institute for Biotechnology and Laboratory of Molecular Biology > Department of Human Genetics > Clinical Genetics Unit > >]
Fryns, Jean-Pierre [Flanders Interuniversity Institute for Biotechnology and Laboratory of Molecular Biology > Department of Human Genetics > Clinical Genetics Unit > >]
Gewillig, Marc [University of Leuven > Pediatric Cardiology Unit > > >]
Huylebroeck, Danny [Flanders Interuniversity Institute for Biotechnology and Laboratory of Molecular Biology > Department of Developmental Biology > > >]
Peers, Bernard mailto [Université de Liège - ULg > Département des sciences de la vie > GIGA-R : Biologie et génétique moléculaire > >]
Devriendt, Koen [Flanders Interuniversity Institute for Biotechnology and Laboratory of Molecular Biology > Department of Human Genetics > Clinical Genetics Unit > >]
2006
Human Molecular Genetics
Oxford University Press
15
22
3369-77
Yes (verified by ORBi)
International
0964-6906
1460-2083
Oxford
United Kingdom
[en] Animals ; Animals, Genetically Modified ; Body Patterning/genetics ; Embryo, Nonmammalian/embryology/metabolism ; Forkhead Transcription Factors/genetics/metabolism ; Gene Expression ; Gene Expression Regulation, Developmental ; Intracellular Signaling Peptides and Proteins/deficiency/genetics/metabolism ; Mutation/genetics ; Nodal Protein ; Protein Binding ; Signal Transduction/genetics ; Transforming Growth Factor beta/metabolism ; Zebrafish/embryology/genetics/metabolism ; Zebrafish Proteins/deficiency/genetics/metabolism
[en] Remarkable progress has been made in understanding the molecular mechanisms underlying left-right asymmetry in vertebrate animal models but little is known on left-right axis formation in humans. Previously, we identified SESN1 (also known as PA26) as a candidate gene for heterotaxia by positional cloning of the breakpoint regions of a de novo translocation in a heterotaxia patient. In this study, we show by means of a zebrafish sesn1-knockdown model that Sesn1 is required for normal embryonic left-right determination. In this model, developmental defects and expression data of genes implicated in vertebrate left-right asymmetry indicate a role for Sesn1 in mediating Nodal signaling. In the lateral plate mesoderm, Nodal signaling plays a central role in left-right axis formation in vertebrates and is mediated by FoxH1 transcriptional induction. In line with this, we show that Sesn1 physically interacts with FoxH1 or a FoxH1-containing complex. Mutation analysis in a panel of 234 patients with isolated heterotaxia did not reveal mutations, indicating that these are only exceptional causes of human heterotaxia. In this study, we identify SESN1 as an indispensable gene for vertebrate left-right asymmetry and a new player in mediating Nodal signaling.
Giga-Development and Stem Cells
http://hdl.handle.net/2268/73293
10.1093/hmg/ddl413
http://hmg.oxfordjournals.org/cgi/reprint/15/22/3369

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