Initially identified in an analysis of two genome-wide association studies (FBrf0223922), the human gene CELF1 is proposed as a candidate susceptibility locus for Alzheimer disease. CELF1 encodes an RNA-binding protein implicated in the regulation of several post-transcriptional events. There is a single fly ortholog, bru1, for which classical amorphic and hypomorphic alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated. Dmel\bru1 is orthologous to one additional human gene, CELF2.
The CELF1 gene has not been introduced into flies.
The fly ortholog bru1 was tested for genetic interaction with a transgenically introduced mutational variant of the human tau gene (Hsap\MAPT): RNAi-mediated reduction in the expression of bru1 was observed to enhance the phenotype associated with tau toxicity; overexpression in the eye reduces the tau toxicity phenotype. Loss-of-function alleles of Dmel\bru1 are typically female sterile and exhibit defects in indirect flight muscles. Physical and genetic interactions of Dmel\bru1 have been characterized; see below and in the gene report for bru1.
[updated June 2016 by FlyBase; FBrf0222196]