The human gene SOX5 is implicated in a form of intellectual disability and developmental delay (see MIM:616803); it may also have a role in development of or susceptibility to a number of neurodegenerative diseases, including amyotrophic lateral sclerosis and Alzheimer disease. Several variants of SOX5 have been associated with disease status in families at risk for late-onset Alzheimer disease. 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. See also the human disease model report 'cardiac dysfunction (postulated), SOX5-related' (FBhh0000754).
The human SOX5 gene has not been introduced into flies.
Flies with RNAi-effected reduction of Sox102F expression in various different neural tissues exhibit misoriented and disorganized microchaete, neurons with shorter dendritic arborization and reduced complexity, diminished larval peristaltic contractions, loss of neuromuscular junction bouton structures, impaired olfactory perception, and/or severe neurodegeneration in brain.
[updated Jul. 2019 by FlyBase; FBrf0222196]
Mutations in the human gene SOX5 may have a role in development of or susceptibility to a number of neurodegenerative diseases, including amyotrophic lateral sclerosis and Alzheimer disease, as well as some forms of intellectual disability and developmental delay (FBrf0235280 and references cited therein).
SOX5 encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. [Gene Cards, SOX5; 2018.03.05]
Many to one: 3 human to 1 Drosophila; the other human genes are SOX6 and SOX13.
Moderate scoring ortholog of SOX5, SOX6, and SOX13 (1 Drosophila to 3 human); Dmel\Sox102F shares 29-30% identity and 40-41% similarity with the human genes.
