title: Incomplete penetrance and variable expressivity of a growth defect as a consequence of knocking out two K(+) transporters in the euascomycete fungus Podospora anserina.
abstract: We describe an example of incomplete penetrance and variable expressivity in the filamentous fungus Podospora anserina, two genetic properties classically associated with mutations in more complex organisms, such as green plants and animals. We show that the knockouts of two TRK-related K(+) transporters of this ascomycete present variability in their phenotype that cannot be attributed to fluctuations of the genetic background or the environment. Thalli of the knockout strains derived from independent monokaryotic ascospores or from a single monokaryotic ascospore and cultivated under standard growth conditions may or may not present impaired growth. When impaired, thalli exhibit a range of phenotypes. Environmental conditions control expressivity to a large extent and penetrance to a low extent. Restoration of functional potassium transport by heterologous expression of K(+) transporters from Neurospora crassa abolishes or strongly diminishes the growth impairment. These data show that incomplete penetrance and variable expressivity can be an intrinsic property of a single Mendelian loss-of-function mutation. They also show that such variability in the expression of a mutant phenotype can be promoted by a phenomenon not obviously related to the well-known chromatin structure modifications, i.e., potassium transport. They provide a framework to understand human channelopathies with similar properties.
authors.affiliation: Institut de Génétique et Microbiologie UMR 8621, Université de Paris-Sud, 91405 Orsay Cedex, France.
authors.forename: Hervé
authors.initials: H
authors.lastname: Lalucque
authors.forename: Philippe
authors.initials: P
authors.lastname: Silar
mesh_terms: D001483:Base Sequence; D027682:Cation Transport Proteins / Q000235:genetics / Q000378:metabolism*; D004271:DNA, Fungal / Q000235:genetics; D005656:Fungal Proteins / Q000235:genetics / Q000378:metabolism*; D017353:Gene Deletion; D005800:Genes, Fungal; D008969:Molecular Sequence Data; D009492:Neurospora crassa / Q000235:genetics / Q000378:metabolism; D010641:Phenotype; D011188:Potassium / Q000378:metabolism*; D020037:Sordariales / Q000235:genetics / Q000254:growth & development* / Q000378:metabolism*
chemical_list: D027682:Cation Transport Proteins; D004271:DNA, Fungal; D005656:Fungal Proteins; D011188:Potassium