title: Drosophila sensory cilia lacking MKS proteins exhibit striking defects in development but only subtle defects in adults.
abstract: Cilia are conserved organelles that have important motility, sensory and signalling roles. The transition zone (TZ) at the base of the cilium is crucial for cilia function, and defects in several TZ proteins are associated with human congenital ciliopathies such as nephronophthisis (NPHP) and Meckel-Gruber syndrome (MKS). In several species, MKS and NPHP proteins form separate complexes that cooperate with Cep290 to assemble the TZ, but flies seem to lack core components of the NPHP module. We show that MKS proteins in flies are spatially separated from Cep290 at the TZ, and that flies mutant for individual MKS genes fail to recruit other MKS proteins to the TZ, whereas Cep290 seems to be recruited normally. Although there are abnormalities in microtubule and membrane organisation in developing MKS mutant cilia, these defects are less apparent in adults, where sensory cilia and sperm flagella seem to function quite normally. Thus, localising MKS proteins to the cilium or flagellum is not essential for viability or fertility in flies.
authors: The Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford OX1 3RE, UK.
authors: Metta B
authors: 0000-0001-5296-1370
authors: MB
authors: Pratt
authors: Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK.
authors: Joshua S
authors: JS
authors: Titlow
authors: Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK.
authors: Ilan
authors: I
authors: Davis
authors: Centre for Microvascular Research, William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.
authors: Amy R
authors: AR
authors: Barker
authors: Biosciences, College of Life and Environmental Sciences, University of Exeter, Exeter EX4 4QD, UK.
authors: Helen R
authors: HR
authors: Dawe
authors: The Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford OX1 3RE, UK jordan.raff@path.ox.ac.uk helio.roque@path.ox.ac.uk.
authors: Jordan W
authors: 0000-0002-4689-1297
authors: JW
authors: Raff
authors: The Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford OX1 3RE, UK jordan.raff@path.ox.ac.uk helio.roque@path.ox.ac.uk.
authors: Helio
authors: 0000-0002-5930-1989
authors: H
authors: Roque
mesh_terms: D000375:Aging / Q000378:metabolism*; D000818:Animals; D054468:Axoneme / Q000378:metabolism; D001522:Behavior, Animal; D002923:Cilia / Q000378:metabolism*; D029721:Drosophila Proteins / Q000378:metabolism*; D004331:Drosophila melanogaster / Q000254:growth & development* / Q000378:metabolism*; D005407:Flagella / Q000378:metabolism; D008297:Male; D008465:Mechanoreceptors / Q000378:metabolism; D008565:Membrane Proteins / Q000378:metabolism; D009154:Mutation / Q000235:genetics; D021381:Protein Transport; D012679:Sense Organs / Q000378:metabolism*; D013090:Spermatocytes / Q000378:metabolism; D013737:Testis / Q000378:metabolism / Q000473:pathology
chemical_list: D029721:Drosophila Proteins; D008565:Membrane Proteins
keywords: Ciliogenesis; MKS module; Sensory cilia; Transition zone