• heart disease

In multiple GWAS studies, the human SOX5 gene has been associated with cardiac-related phenotypes. SOX5 encodes a member of the SOX (SRY-related HMG-box) family of transcription factors. There is a single orthologous gene in Drosophila, Sox102F, for which RNAi-targeting constructs and alleles caused by insertional mutagenesis have been generated. Dmel\Sox102F is orthologous to two additional genes in human, SOX6 and SOX13.

The human SOX5 gene has not been introduced into flies.

Flies with RNAi-effected reduction of Sox102F expression in mesodermal tissues appear normal at eclosion. 30-day-old flies exhibit cardiac hypertrophy, a decrease in size of the heart chamber, and a decrease in heart rate and wall velocities compared to controls; myofibril structure is disrupted. Reduction of expression in neuronal tissues results in neuroanatomy-defective and locomotor-defective phenotypes.

For fly transgenic constructs and classical alleles, detailed phenotypic descriptions can be found in the allele reports; allele reports can be accessed from the gene report or by clicking on the allele symbols in the Disease Ontology and Reagent tables below.

[updated Mar. 2018 by FlyBase; FBrf0222196]