This gene was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module. Sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism; this finding was further validated by exome sequencing of an independent cohort of 505 ASD cases and 491 controls (Li et al., 2014).
Molecular Function
This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.
dlg1 homozygous mutants are lethal compared to controls. Depending on the gene, double dlg1 heterozygotes exhibit decreased neuromuscular junction bouton numbers and altered sleep patterns. dlg1 knockdowns show a habituation deficit.
References
Type
Title
Author, Year
Primary
Synergistic interactions between Drosophila orthologues of genes spanned by de novo human CNVs support multiple-hit models of autism.
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Stock acquired for positive mutation hit for dlg1 from the Bloomington Drosophila Stock Center was isogenised to the w^1118 wild type background for 7 generations.
Allele Type: Loss-of-function
Strain of Origin: w^1118
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
Stock acquired for positive mutation hit for dlg1 from the Bloomington Drosophila Stock Center was isogenised to the w^1118 wild type background for 7 generations.
Allele Type: Loss-of-function
Strain of Origin: w^1118
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Heterozygous/heterozygous
Mutation:
Stock acquired for positive mutation hits for dlg1 and Pak from the Bloomington Drosophila Stock Center was isogenised to the w^1118 wild type background for 7 generations. Double (trans-)heterozygotes were isogenised to each other.
Allele Type: Loss-of-function
Strain of Origin: w^1118
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Heterozygous/heterozygous
Mutation:
Stock acquired for positive mutation hits for dlg1 and CG5359 from the Bloomington Drosophila Stock Center was isogenised to the w^1118 wild type background for 7 generations. Double (trans-)heterozygotes were isogenised to each other.
Allele Type: Loss-of-function
Strain of Origin: w^1118
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Heterozygous/heterozygous
Mutation:
Stock acquired for positive mutation hits for dlg1 and Fsn from the Bloomington Drosophila Stock Center was isogenised to the w^1118 wild type background for 7 generations. Double (trans-)heterozygotes were isogenised to each other.
Allele Type: Loss-of-function
Strain of Origin: w^1118
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
dlg1-Gal4 driver line expressing UAS-Dlg1-RNAi.
Allele Type: Loss-of-function
Strain of Origin: Not reported
Genetic Background: Not reported
ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
dlg1-Gal4 driver line expressing UAS-Dlg1-RNAi.
Allele Type: Loss-of-function
Strain of Origin: Not reported
Genetic Background: Not reported
ES Cell Line: Mutant ES Cell Line: Model Source:
Circadian rhythms: timing/phases of locomotor activity1
Abnormal
Description: dlg1 transheterozygous mutants lost the dark bias and displayed no significant difference between light/dark sleeping patterns compared to controls.
Description: When challenged in the light-off jump paradigm, the mutants showed a habituation deficit compared to controls.
Exp Paradigm: Habituation was measured in number of trials to reach no-jump criterion.
Description: When challenged in the light-off jump paradigm, the mutants showed a habituation deficit compared to controls.
Exp Paradigm: Habituation was measured in number of trials to reach no-jump criterion.
