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CiliaCarta: An integrated and validated compendium of ciliary genes. | LitMetric

AI Article Synopsis

  • The study focuses on the cilium, a crucial part of mammalian cells, and explores how its dysfunction leads to ciliopathies, a group of genetic diseases.
  • Researchers utilized various data types and advanced statistical methods to identify 285 potential ciliary genes and confirmed ciliary functions for 24 of them through experiments in different model organisms like mice and zebrafish.
  • The findings have led to the creation of CiliaCarta, a comprehensive database of 956 ciliary genes, which can help prioritize genetic testing for patients with ciliopathy disorders.

Article Abstract

The cilium is an essential organelle at the surface of mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies. The current rate at which new ciliopathy genes are identified suggests that many ciliary components remain undiscovered. We generated and rigorously analyzed genomic, proteomic, transcriptomic and evolutionary data and systematically integrated these using Bayesian statistics into a predictive score for ciliary function. This resulted in 285 candidate ciliary genes. We generated independent experimental evidence of ciliary associations for 24 out of 36 analyzed candidate proteins using multiple cell and animal model systems (mouse, zebrafish and nematode) and techniques. For example, we show that OSCP1, which has previously been implicated in two distinct non-ciliary processes, causes ciliogenic and ciliopathy-associated tissue phenotypes when depleted in zebrafish. The candidate list forms the basis of CiliaCarta, a comprehensive ciliary compendium covering 956 genes. The resource can be used to objectively prioritize candidate genes in whole exome or genome sequencing of ciliopathy patients and can be accessed at http://bioinformatics.bio.uu.nl/john/syscilia/ciliacarta/.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6522010PMC
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0216705PLOS

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