This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, rare mutations of the CHD7 gene have been identified with CHARGE syndrome (Vissers et al., 2004), and a rare mutation in the CHD7 gene has been identified in an individual with ASD (ORoak et al., 2012).
Molecular Function
This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
Fruit flies with reduced expression of kismet, the fly homolog of Chd7/Chd8 that is widely expressed in the developing larval central nervous system, show defects in social immediate recall memory, climbing ability, and neuronal defects in axonal pruning, extension and migration in developing mushroom bodies. kis function is required both for normal eye development, as well as normal photoreceptor axon guidance in the developing fly eye.
References
Type
Title
Author, Year
Additional
A constant light-genetic screen identifies KISMET as a regulator of circadian photoresponses.
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
kismet knockdown was induced using EP2469 line under the control of the timeless promoter tim-Gal4. EP lines carry randomly inserted P-elements in their genome, which contain UAS binding sites. EP2469 is inserted in the 12th intron of the kis gene. It could also potentially overexpress cg13693, which is nested 10kb downstream of the EP- element, within kis 4th intron. This EP line creates an antisense RNA for kismet that downregulates its expression.
Allele Type: Conditional knockdown
Strain of Origin: Unreported
Genetic Background: Unreported
ES Cell Line: Mutant ES Cell Line: Model Source: P. Rorth collection
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
kismet RNAi was induced using NIG-Fly line 3696R-1 under the control of the timeless promoter tim-Gal4.
Allele Type: Conditional knockdown
Strain of Origin: Unreported
Genetic Background: y w
ES Cell Line: Mutant ES Cell Line: Model Source: NIG-Fly collection
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
kismet RNAi was induced using VDRC line 46685 under the control of the timeless promoter tim-Gal4.
Allele Type: Conditional knockdown
Strain of Origin: Unreported
Genetic Background: y w
ES Cell Line: Mutant ES Cell Line: Model Source: VDRC collection
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
kismet RNAi was induced using NIG-Fly line 3696R-1 under the control of the timeless promoter tim-Gal4. These were co-expressed along with dicer2 to increase the RNAi effects.
Allele Type: Conditional knockdown
Strain of Origin: Unreported
Genetic Background: w^1118
ES Cell Line: Mutant ES Cell Line: Model Source: NIG-Fly collection
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
kismet RNAi was induced using VDRC line 46685 under the control of the timeless promoter tim-Gal4. These were co-expressed along with dicer2 to increase the RNAi effects.
Allele Type: Conditional knockdown
Strain of Origin: Unreported
Genetic Background: w^1118
ES Cell Line: Mutant ES Cell Line: Model Source: VDRC collection
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
kismet RNAi was induced using NIG-Fly line 3696R-1 under the control of the promoter pdf-Gal4. PDF is expressed in ventral lateral neurons, a subset of circadian neurons.
Allele Type: Conditional knockdown
Strain of Origin: Unreported
Genetic Background: Unreported
ES Cell Line: Mutant ES Cell Line: Model Source: NIG-Fly collection
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
kismet RNAi was induced using NIG-Fly line 3696R-1 under the control of the promoter pdf-Gal4. These were co-expressed along with dicer2 to increase the RNAi effects.
Allele Type: Conditional knockdown
Strain of Origin: Unreported
Genetic Background: Unreported
ES Cell Line: Mutant ES Cell Line: Model Source: NIG-Fly collection
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
kismet RNAi was induced using NIG-Fly line 3696R-1 under the control of the promoters tim-Gal4 and pdf-Gal80. Expression is restricted to a subset of circadian neurons: dorsal lateral neurons and dorsal neurons.
Allele Type: Conditional knockdown
Strain of Origin: Unreported
Genetic Background: Unreported
ES Cell Line: Mutant ES Cell Line: Model Source: NIG-Fly collection
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
kismet RNAi was induced using VDRC line 46685 under the control of the promoter pdf-Gal4. These were co-expressed along with dicer2 to increase the RNAi effects.
Allele Type: Conditional knockdown
Strain of Origin: Unreported
Genetic Background: Unreported
ES Cell Line: Mutant ES Cell Line: Model Source: NIG-Fly collection
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
RNAi mediated kismet knockdown using UAS-kis-RNAi.a under the OK371-GAl4 driver.
Allele Type: Conditional knockdown
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
RNAi mediated kismet knockdown using UAS-kis-RNAi.a under the OK107-GAl4 driver.
Allele Type: Conditional knockdown
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
RNAi mediated kismet knockdown using UAS-kis-RNAi.a under the 1471-GAl4 driver.
Allele Type: Conditional knockdown
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
RNAi mediated kismet knockdown using UAS-kis-RNAi.a under the D42-GAl4 driver.
Allele Type: Conditional knockdown
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
RNAi mediated kismet knockdown using UAS-kis-RNAi.a under the pdf-GAl4 driver.
Allele Type: Conditional knockdown
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
RNAi mediated kismet knockdown using UAS-kis-RNAi.a under the REPO-GAl4 driver.
Allele Type: Conditional knockdown
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
RNAi mediated kismet knockdown using UAS-kis-RNAi.a under the c309-GAl4 driver.
Allele Type: Conditional knockdown
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
RNAi mediated kismet knockdown using UAS-kis-RNAi.a under the OK307-GAl4 driver.
Allele Type: Conditional knockdown
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
RNAi mediated kismet knockdown using UAS-kis-RNAi.a under the A51-GAl4 driver.
Allele Type: Conditional knockdown
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
RNAi mediated kismet knockdown using UAS-kis-RNAi.a under the DJ757-GAl4 driver.
Allele Type: Conditional knockdown
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
kis^LM27 is a protein null mutant allele for kismet.
Allele Type: Knockout
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
RNAi mediated kismet knockdown using UAS-kis-RNAi.b under the OK107-GAl4 driver.
Allele Type: Conditional knockdown
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
MARCM clones mutant for kis^LM27 using the OK107-Gal4 driver, which is expressed in the a, b and g neurons.
Allele Type: Conditional knockout
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
MARCM clones mutant for kis using the 201-Y-Gal4 driver, expressed in gamma neurons of the mushroom body.
Allele Type: Conditional knockout
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
MARCM clones mutant for kis function in the dorsal cluster neurons (DCNs), a subset of Atonal-expressing neurons in the larval and adult brain.
Allele Type: Conditional knockout
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
Atonal-GAL4 mediated kismet knockdown using UAS-RNAi.a.
Allele Type: Conditional knockdown
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
Atonal-GAL4 mediated kismet knockdown using UAS-RNAi.b.
Allele Type: Conditional knockdown
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
GMR-Gal4 mediated kismet knockdown in the eye using UAS-kis-RNAi.b.
Allele Type: Conditional knockdown
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
RNAi mediated kismet knockdown using UAS-kis-RNAi.a under the engrailed-GAl4 driver. Kis RNAi.a strains were publicly available from the Vienna Drosophila RNAi Center.
Allele Type: Conditional knockdown
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
RNAi mediated kismet knockdown using UAS-kis-RNAi.b under the engrailed-GAl4 driver. Kis RNAi.b strains were publicly available from the Vienna Drosophila RNAi Center.
Allele Type: Conditional knockdown
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
RNAi mediated kismet knockdown using UAS-kis-RNAi.b under the da-GAl4 driver.
Allele Type: Conditional knockdown
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
RNAi mediated kismet knockdown using UAS-kis-RNAi.a under the da-GAl4 driver.
Allele Type: Conditional knockdown
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
RNAi mediated kismet knockdown using UAS-kis-RNAi.b under the elav-GAl4 driver.
Allele Type: Conditional knockdown
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
RNAi mediated kismet knockdown using UAS-kis-RNAi.a under the elav-GAl4 driver.
Allele Type: Conditional knockdown
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
RNAi mediated kismet knockdown using UAS-kis-RNAi.a under the ple-GAl4 driver.
Allele Type: Conditional knockdown
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
RNAi mediated kismet knockdown using UAS-kis-RNAi.a under the CHA-GAl4 driver.
Allele Type: Conditional knockdown
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Description: kis mutant flies showed abnormal patterns of rhythmicity under constant light compared to controls. Specifically, kis mutants were 56% rhythmic whereas wild-type controls were totally arrhythmic (0% rhythmicity). kis mutants showed rhythmicity period close to 25 hours.
Exp Paradigm: Constant light (LL) condition
Description: kis mutant flies showed abnormal patterns of rhythmicity under constant light compared to controls. Specifically, kis mutants were 60% rhythmic whereas wild-type controls were totally arrhythmic (0% rhythmicity). kis mutants showed rhythmicity period close to 24 hours. Under constant darkness, mutants were 93% rhythmic and wildtypes were 74% rhythmic (difference not significant).
Exp Paradigm: Constant light (LL) condition
Description: kis mutant flies showed abnormal patterns of rhythmicity under constant light compared to controls. Specifically, kis mutants were 50-65% rhythmic whereas wild-type controls were totally arrhythmic (0% rhythmicity). Moreover, kis mutants showed rhythmicity period close to 26 hours.Under constant darkness, mutants were 98% rhythmic and wildtypes were 74% rhythmic (difference not significant).
Exp Paradigm: Constant light (LL) condition
Description: kis mutants showed abnormal pattern of rhythmicity under constant light compared to controls. Specifically, kis mutants were 62% rhythmic whereas wild-type controls were totally arrhythmic (0% rhythmicity). kis mutants showed rhythmicity period close to 24 hours.
Exp Paradigm: Constant light (LL) condition
Description: kis mutants showed abnormal pattern of rhythmicity under constant light compared to controls. Specifically, kis mutants were 82% rhythmic whereas wild-type controls were totally arrhythmic (0% rhythmicity). kis mutants showed rhythmicity period close to 25 hours. Under constant darkness, mutants were 69% rhythmic and wildtypes were 74% rhythmic (difference not significant).
Exp Paradigm: Constant light (LL) condition
Description: Kis knockdown showed no significant difference between trained and sham-trained flies, indicative of no immediate recall memory of training.
Description: Mutants display abnormal axonal migration into the developing brain and defasciculation of axon bundles in the optic stalk, compared to controls.
Description: Kis knockdown showed no significant difference between trained and sham-trained flies, indicative of no immediate recall memory of training.
Description: Mutants show severe reduction in the number of axons extending into the lobulla, and subsequently extending from the lobulla into the medulla compared to controls.
