RRC ID 4317
著者 Williams CL, Winkelbauer ME, Schafer JC, Michaud EJ, Yoder BK.
タイトル Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis.
ジャーナル Mol Biol Cell
Abstract Meckel-Gruber syndrome (MKS), nephronophthisis (NPHP), and Joubert syndrome (JBTS) are a group of heterogeneous cystic kidney disorders with partially overlapping loci. Many of the proteins associated with these diseases interact and localize to cilia and/or basal bodies. One of these proteins is MKS1, which is disrupted in some MKS patients and contains a B9 motif of unknown function that is found in two other mammalian proteins, B9D2 and B9D1. Caenorhabditis elegans also has three B9 proteins: XBX-7 (MKS1), TZA-1 (B9D2), and TZA-2 (B9D1). Herein, we report that the C. elegans B9 proteins form a complex that localizes to the base of cilia. Mutations in the B9 genes do not overtly affect cilia formation unless they are in combination with a mutation in nph-1 or nph-4, the homologues of human genes (NPHP1 and NPHP4, respectively) that are mutated in some NPHP patients. Our data indicate that the B9 proteins function redundantly with the nephrocystins to regulate the formation and/or maintenance of cilia and dendrites in the amphid and phasmid ciliated sensory neurons. Together, these data suggest that the human homologues of the novel B9 genes B9D2 and B9D1 will be strong candidate loci for pathologies in human MKS, NPHP, and JBTS.
巻・号 19(5)
ページ 2154-68
公開日 2008-5-1
DOI 10.1091/mbc.e07-10-1070
PII E07-10-1070
PMID 18337471
PMC PMC2366840
MeSH Alleles Animals Body Patterning Caenorhabditis elegans / cytology* Caenorhabditis elegans / genetics Caenorhabditis elegans / metabolism* Caenorhabditis elegans Proteins / metabolism* Cilia / metabolism* Coloring Agents Conserved Sequence Dendrites / metabolism Feeding Behavior Genes, Helminth Mutation / genetics Neuroglia / cytology Neurons, Afferent / cytology Neurons, Afferent / metabolism Protein Transport Transcription Factors / metabolism
IF 3.791
引用数 76
WOS 分野 CELL BIOLOGY
リソース情報
線虫 tm2705 tm2452 tm925