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Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.

Nature communications | Oct 21, 2015

Ciliopathies are a large group of clinically and genetically heterogeneous disorders caused by defects in primary cilia. Here we identified mutations in TRAF3IP1 (TNF Receptor-Associated Factor Interacting Protein 1) in eight patients from five families with nephronophthisis (NPH) and retinal degeneration, two of the most common manifestations of ciliopathies. TRAF3IP1 encodes IFT54, a subunit of the IFT-B complex required for ciliogenesis. The identified mutations result in mild ciliary defects in patients but also reveal an unexpected role of IFT54 as a negative regulator of microtubule stability via MAP4 (microtubule-associated protein 4). Microtubule defects are associated with altered epithelialization/polarity in renal cells and with pronephric cysts and microphthalmia in zebrafish embryos. Our findings highlight the regulation of cytoplasmic microtubule dynamics as a role of the IFT54 protein beyond the cilium, contributing to the development of NPH-related ciliopathies.

Pubmed ID: 26487268 RIS Download

Mesh terms: Animals | Blotting, Western | Carrier Proteins | Cell Polarity | Circular Dichroism | Embryo, Nonmammalian | Female | Fluorescent Antibody Technique | Gene Knockout Techniques | HEK293 Cells | High-Throughput Nucleotide Sequencing | Humans | Immunoprecipitation | Kidney Diseases, Cystic | Male | Microphthalmos | Microtubule-Associated Proteins | Microtubules | Mutation | Pedigree | Retinal Degeneration | Reverse Transcriptase Polymerase Chain Reaction | Zebrafish | Zebrafish Proteins

Research resources used in this publication

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Associated grants

  • Agency: NIDDK NIH HHS, Id: R01 DK053093
  • Agency: NIDDK NIH HHS, Id: R01 DK068306
  • Agency: NIDDK NIH HHS, Id: DK068306
  • Agency: Howard Hughes Medical Institute, Id:

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PolyPhen: Polymorphism Phenotyping

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Imaris

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SIFT

Data analysis service to predict whether an amino acid substitution affects protein function based on sequence homology and the physical properties of amino acids. SIFT can be applied to naturally occurring nonsynonymous polymorphisms and laboratory-induced missense mutations. (entry from Genetic Analysis Software) Web service is also available.

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SAMTOOLS

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dbSNP

Database as central repository for both single base nucleotide substitutions and short deletion and insertion polymorphisms. Distinguishes report of how to assay SNP from use of that SNP with individuals and populations. This separation simplifies some issues of data representation. However, these initial reports describing how to assay SNP will often be accompanied by SNP experiments measuring allele occurrence in individuals and populations. Community can contribute to this resource.

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GeneTools

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CellProfiler Image Analysis Software

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Proteintech Group

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GENEHUNTER

Software application for multipoint analysis of pedigree data including: non-parametric linkage analysis, LOD-score computation, information-content mapping, haplotype reconstruction (entry from Genetic Analysis Software)

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MERLIN

Software application that carries out single-point and multipoint analyses of pedigree data, including IBD and kinship calculations, nonparametric and variance component linkage analyses, error detection and information content mapping. For multipoint analyses in dense maps, Merlin allows the user to impose constraints on the number of recombinants between consecutive markers. Merlin estimates haplotypes by finding the most likely path of gene flow or by sampling paths of gene flow at all markers jointly. It can also list all possible nonrecombinant haplotypes within short regions. Finally, Merlin provides swap-file support for handling very large numbers of markers as well as gene-dropping simulations for estimating empirical significance levels. (entry from Genetic Analysis Software)

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