title: Gene targeting reveals a widespread role for the high-mobility-group transcription factor Sox11 in tissue remodeling.
abstract: The high-mobility-group domain-containing transcription factor Sox11 is expressed transiently during embryonic development in many tissues that undergo inductive remodeling. Here we have analyzed the function of Sox11 by gene deletion in the mouse. Sox11-deficient mice died at birth from congenital cyanosis, likely resulting from heart defects. These included ventricular septation defects and outflow tract malformations that ranged from arterial common trunk to a condition known as double outlet right ventricle. Many other organs that normally express Sox11 also exhibited severe developmental defects. We observed various craniofacial and skeletal malformations, asplenia, and hypoplasia of the lung, stomach, and pancreas. Eyelids and the abdominal wall did not close properly in some Sox11-deficient mice. This phenotype suggests a prime function for Sox11 in tissue remodeling and identifies SOX11 as a potentially mutated gene in corresponding human malformation syndromes.
authors.affiliation: Institut für Biochemie, Universität Erlangen-Nürnberg, Fahrstrasse 17, D-91054 Erlangen, Germany.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Sock
authors.forename: Stefanie D
authors.initials: SD
authors.lastname: Rettig
authors.forename: Janna
authors.initials: J
authors.lastname: Enderich
authors.forename: Michael R
authors.initials: MR
authors.lastname: Bösl
authors.forename: Ernst R
authors.initials: ER
authors.lastname: Tamm
authors.forename: Michael
authors.initials: M
authors.lastname: Wegner
mesh_terms: D000818:Animals; D001842:Bone and Bones / Q000002:abnormalities; D003490:Cyanosis / Q000235:genetics / Q000378:metabolism; D005697:Galactosides / Q000378:metabolism; D017353:Gene Deletion; D018507:Gene Expression Regulation, Developmental; D018390:Gene Targeting; D005838:Genotype; D006330:Heart Defects, Congenital / Q000235:genetics; D006609:High Mobility Group Proteins / Q000235:genetics / Q000378:metabolism* / Q000502:physiology*; D007211:Indoles / Q000378:metabolism; D051379:Mice; D008817:Mice, Mutant Strains; D008855:Microscopy, Electron, Scanning; D008957:Models, Genetic; D010641:Phenotype; D055751:SOXC Transcription Factors; D013997:Time Factors; D015534:Trans-Activators; D001616:beta-Galactosidase / Q000378:metabolism
chemical_list: D005697:Galactosides; D006609:High Mobility Group Proteins; D007211:Indoles; D055751:SOXC Transcription Factors; C490793:Sox11 protein, mouse; D015534:Trans-Activators; D001616:beta-Galactosidase; C044888:5-bromo-4-chloro-3-indolyl beta-galactoside