title: Planar cell polarity effector gene Fuzzy regulates cilia formation and Hedgehog signal transduction in mouse.
abstract: Precise planar cell polarity (PCP) is critical for the development of multiple organ systems in animals. A group of core-PCP proteins are recognized to play crucial roles in convergent extension and other PCP-related processes in mammals. However, the functions of another group of PCP-regulating proteins, the PCP-effector proteins, are yet to be fully studied. In this study, the generation and characterization of a mouse mutant for the PCP effector gene Fuzzy (Fuz) is reported. Fuz homozygous mutants are embryonically lethal, with multiple defects including neural tube defects, abnormal dorsal/ventral patterning of the spinal cord, and defective anterior/posterior patterning of the limb buds. Fuz mutants also exhibit abnormal Hedgehog (Hh) signaling and inefficient proteolytic processing of Gli3. Finally, a significant decrease in cilia was found in Fuz homozygous mutants. In conclusion, Fuz plays an important role in cilia formation, Hh signal transduction, and embryonic development in mammals.
authors.affiliation: Department of Biology, Eberly College of Science, The Pennsylvania State University, University Park, Pennsylvania 16802, USA.
authors.forename: Westley
authors.initials: W
authors.lastname: Heydeck
authors.forename: Huiqing
authors.initials: H
authors.lastname: Zeng
authors.forename: Aimin
authors.initials: A
authors.lastname: Liu
mesh_terms: D000818:Animals; D019521:Body Patterning / Q000235:genetics; D016764:Cell Polarity / Q000235:genetics*; D002478:Cells, Cultured; D002923:Cilia / Q000235:genetics* / Q000378:metabolism / Q000502:physiology; D003598:Cytoskeletal Proteins; D004622:Embryo, Mammalian; D047108:Embryonic Development / Q000235:genetics; D005260:Female; D053823:Hedgehog Proteins / Q000378:metabolism* / Q000502:physiology; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics / Q000378:metabolism / Q000502:physiology*; D008297:Male; D051379:Mice; D008809:Mice, Inbred C3H; D008822:Mice, Transgenic; D008954:Models, Biological; D050505:Mutant Proteins / Q000235:genetics / Q000502:physiology; D011247:Pregnancy; D015398:Signal Transduction / Q000235:genetics; D013116:Spinal Cord / Q000002:abnormalities
chemical_list: D003598:Cytoskeletal Proteins; C544812:Fuz protein, mouse; D053823:Hedgehog Proteins; D047908:Intracellular Signaling Peptides and Proteins; D050505:Mutant Proteins