Planar cell polarity effector gene Fuzzy regulates cilia formation and Hedgehog signal transduction in mouse.
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.
Heydeck
Westley
W
Department of Biology, Eberly College of Science, The Pennsylvania State University, University Park, Pennsylvania 16802, USA.
Zeng
Huiqing
H
Liu
Aimin
A
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
D003598:Cytoskeletal Proteins; C544812:Fuz protein, mouse; D053823:Hedgehog Proteins; D047908:Intracellular Signaling Peptides and Proteins; D050505:Mutant Proteins