Article
A Screen for Modifiers of Cilia Phenotypes Reveals Novel MKS Alleles and Uncovers a Specific Genetic Interaction between osm-3 and nphp-4.
PLoS genetics - 1 Feb 2016
Masyukova Svetlana V, Landis Dawn E, Henke Scott J, Williams Corey L, Pieczynski Jay N, Roszczynialski Kelly N, Covington Jannese E, Malarkey Erik B, Yoder Bradley K
Abstract excerpt
Nephronophthisis (NPHP) is a ciliopathy in which genetic modifiers may underlie the variable penetrance of clinical features. To identify modifiers, a screen was conducted on C. elegans nphp-4(tm925) mutants. Mutations in ten loci exacerbating nphp-4(tm925) ciliary defects were obtained. Four loci have been identified, three of which are established ciliopathy genes mks-1, mks-2, and mks-5. The fourth allele...
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