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Relevance to Autism

This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In addition, studies have found positive genetic associations between the DMD gene and ASD in US and European population samples (Wang et al., 2009; Chung et al., 2011). Also, rare mutations involving the DMD gene have been identified in individuals with ASD (Pinto et al., 2010).

Molecular Function

This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Association of Duchenne muscular dystrophy with autism spectrum disorder.
Duchenne muscular dystrophy
ASD
Positive Association
The dystrophin gene and cognitive function in the general population.
Cognitive function
Positive Association
A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...
ASD
Positive Association
An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males.
ASD
Positive Association
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
ASD
Support
Whole-genome sequencing of quartet families with autism spectrum disorder.
ASD
Support
Genetic landscape of autism spectrum disorder in Vietnamese children
ASD
Support
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
ASD
Support
DD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients.
ASD
Duchenne muscular dystrophy
Support
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
ASD
ID
Support
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
ID
Support
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with develop...
Duchenne muscular dystrophy
ID
Support
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
ASD
Support
Duchenne muscular dystrophy, ASD, DD
Support
Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...
DD, ID, ASD
MCA
Support
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders.
ASD, SCZ
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
DD, ID
ASD, ADHD
Support
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center
DD
Support
Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with aut...
ASD
ID, epilepsy
Support
Duchenne muscular dystrophy, ASD, DD, epilepsy/sei
Support
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
ID
Microcephaly
Support
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD
Support
Autism Spectrum Disorder and Duchenne Muscular Dystrophy: A Clinical Case on the Potential Role of the Dystrophin in Autism Neurobiology
Duchenne muscular dystrophy, ASD, DD, ID
Epilepsy/seizures
Support
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.
ID
Support
ASD
Highly Cited
A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin.
Highly Cited
Dystrophin: the protein product of the Duchenne muscular dystrophy locus.
Highly Cited
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.
Recent Recommendation
PTC124 targets genetic disorders caused by nonsense mutations.
Recent Recommendation
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.
ASD
Recent Recommendation
Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs.
Recent Recommendation
Wnt7a treatment ameliorates muscular dystrophy.
Recent Recommendation
Association of autistic spectrum disorders with dystrophinopathies.
Recent Recommendation
An ankyrin-based mechanism for functional organization of dystrophin and dystroglycan.
Recent Recommendation
Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations.
Recent Recommendation
Neuropsychiatric disorders in males with duchenne muscular dystrophy: frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spe...
Recent Recommendation
Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system.
Duchenne muscular dystrophy
Recent Recommendation
Cognitive and psychological profile of males with Becker muscular dystrophy.
Recent Recommendation
Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN070R001 
 copy_number_loss 
  
  
  
  
  
 GEN070R002 
 copy_number_loss 
  
  
  
  
  
 GEN070R003 
 copy_number_loss 
  
  
  
  
  
 GEN070R004 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN070R005 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN070R006 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN070R007 
 copy_number_gain 
  
  
 Familial 
 Maternal 
  
 GEN070R008 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Unknown 
 GEN070R009 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Unknown 
 GEN070R010 
 copy_number_gain 
  
  
 Unknown 
  
 Unknown 
 GEN070R011 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN070R012 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN070R013 
 copy_number_gain 
  
  
 Unknown 
  
 Unknown 
 GEN070R014 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN070R015 
 missense_variant 
 c.5477G>T 
 p.Arg1826Ile 
 Familial 
 Maternal 
 Simplex 
 GEN070R016 
 inframe_deletion 
 c.9711_9713del 
 p.Leu3238del 
 Familial 
 Maternal 
 Multi-generational 
 GEN070R017 
 missense_variant 
 c.3479A>G 
 p.Asn1160Ser 
 Unknown 
  
 Unknown 
 GEN070R018 
 missense_variant 
 c.2473A>G 
 p.Met825Val 
 Unknown 
  
 Unknown 
 GEN070R019 
 splice_site_variant 
 c.4187C>T 
 p.Ala1396Val 
 Unknown 
  
 Unknown 
 GEN070R020 
 missense_variant 
 c.5485C>G 
 p.Gln1829Glu 
 Familial 
 Maternal 
 Multiplex 
 GEN070R021 
 missense_variant 
 c.2971G>C 
 p.Glu991Gln 
 Unknown 
  
 Unknown 
 GEN070R022 
 missense_variant 
 c.8452G>A 
 p.Asp2818Asn 
 De novo 
  
 Unknown 
 GEN070R023 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN070R024 
 frameshift_variant 
 c.10889del 
 p.Arg3630GlnfsTer27 
 Familial 
 Maternal 
 Multiplex 
 GEN070R025 
 splice_site_variant 
 c.10238+1G>A 
  
 Unknown 
  
 Unknown 
 GEN070R026 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN070R027 
 intron_variant 
 c.8-106532dup 
  
  
  
 Unknown 
 GEN070R028 
 synonymous_variant 
 c.4917G>A 
 p.Thr1639= 
 De novo 
  
 Simplex 
 GEN070R029 
 complex_structural_alteration 
  
  
 De novo 
  
  
 GEN070R030 
 stop_gained 
 c.8713C>T 
 p.Arg2905Ter 
 Familial 
 Maternal 
  
 GEN070R031 
 missense_variant 
 c.1138C>T 
 p.His380Tyr 
 Familial 
 Maternal 
 Simplex 
 GEN070R032 
 missense_variant 
 c.2877A>C 
 p.Glu959Asp 
 Familial 
 Maternal 
 Simplex 
 GEN070R033 
 copy_number_loss 
  
  
 Unknown 
  
  
 GEN070R034 
 copy_number_loss 
  
  
 Unknown 
  
  
 GEN070R035 
 copy_number_loss 
  
  
 Unknown 
  
  
 GEN070R036 
 missense_variant 
 c.8753T>G 
 p.Leu2918Trp 
 De novo 
  
  
 GEN070R037 
 missense_variant 
 c.8753T>G 
 p.Leu2918Trp 
 De novo 
  
 Simplex 
 GEN070R038 
 missense_variant 
 c.8426G>A 
 p.Arg2809His 
 De novo 
  
 Simplex 
 GEN070R039 
 synonymous_variant 
 c.7386A>G 
 p.Pro2462%3D 
 De novo 
  
  
 GEN070R040 
 inversion 
  
  
 Unknown 
  
 Simplex 
 GEN070R041 
 SVA_insertion 
  
  
 Unknown 
  
 Simplex 
 GEN070R042 
 missense_variant 
 c.1132C>G 
 p.Gln378Glu 
 Familial 
 Maternal 
 Simplex 
  et al.  
 GEN070R043 
 splice_site_variant 
 c.7310-1G>A 
  
 Unknown 
  
 Unknown 
  et al.  
 GEN070R044 
 inversion 
  
  
 Familial 
 Maternal 
 Multiplex 
  et al.  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN070C001 
 intron_variant 
 rs5972577 
 c.3408+1266T>C;c.3432+1266T>C;c.3420+1266T>C;c.3063+1266T>C;c.3303+1266T>C;c.1062+1266T>C 
 A/G 
 US and European 
 Discovery 
 GEN070C002 
 intron_variant 
 rs721699 
 c.2144+4944G>A;c.2168+4944G>A;c.2156+4944G>A;c.1799+4944G>A;c.2039+4944G>A 
 T/C 
 HIHG/CHGR, AGRE, ACC 
 Discovery 
 GEN070C003 
 intron_variant 
 rs5972577 
 c.3408+1266T>C;c.3432+1266T>C;c.3420+1266T>C;c.3063+1266T>C;c.3303+1266T>C;c.1062+1266T>C 
  
 Discovery cohort: 2165 participants from AGRE 
 Discovery 
 GEN070C004 
 intron_variant 
 rs147546024 
 c.8-107769T>C;c.31+83313T>C;c.19+178T>C;c.-339+94T>C 
 A/G 
 1240 participants from Erasmus Rucphen family (ERF) study 
 Discovery 
 GEN070C005 
 missense_variant 
 rs1800273 
 c.6439C>T;c.6463C>T;c.6451C>T;c.6094C>T;c.2440C>T;c.2431C>T;c.-918C>T;c.6334C>T;c.6325C>T;c.4093C>T 
 p.Arg2147Trp 
 1464 individuals from the Rotterdam study (RS) 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 29
 
X
Duplication
 5
 
X
Deletion
 20
 
X
Deletion
 4
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Deletion
 2
 
X
Deletion
 4
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 21
 
X
Deletion-Duplication
 16
 

Model Summary

Alteration of amygdala local inhibitory neuronal circuits & enhancement of fear-motivated defensive behaviors.

References

Type
Title
Author, Year
Primary
A new model mouse for Duchenne muscular dystrophy produced by 2.4 Mb deletion of dystrophin gene using Cre-loxP recombination system.
Additional
A new model mouse for Duchenne muscular dystrophy produced by 2.4 Mb deletion of dystrophin gene using Cre-loxP recombination system.
Additional
A deficit of brain dystrophin impairs specific amygdala GABAergic transmission and enhances defensive behaviour in mice.
Additional
Role of mental retardation-associated dystrophin-gene product Dp71 in excitatory synapse organization, synaptic plasticity and behavioral functions.
Additional
Alterations of the cortico-cortical network in sensori-motor areas of dystrophin deficient mice.
Additional
Evidence for impaired neurovascular transmission in a murine model of Duchenne muscular dystrophy.

M_DMD_1_KO_HM

Model Type: Genetic
Model Genotype: Hemizygous
Mutation: Cre-loxP site-specific recombination system mediated deletion of 2.4 Mb Dmd region.
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL6J
Genetic Background: Not Specified
ES Cell Line: A318
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_DMD_2_CN_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Insertion of two loxP sites at the breakpoints of the Dmd region.
Allele Type: Targeted (Conditional)
Strain of Origin: C57BL6J
Genetic Background: Not Specified
ES Cell Line: TT2-F
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_DMD_3_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Point mutation in exon 23 of the Dmd gene resulting in a stop codon that abrogates expression of full-length 427-kDa dystrophin.
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL/10J
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_DMD_4_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Replacement of first exon of Dp71 by the beta-gal reporter gene.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Specified
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_DMD_5_MDX_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: C-to T- transition at position 3185 resulting in a termination codon in place of a glutamine codon resulting in a truncated protein.
Allele Type: Mutation (Knock Out)
Strain of Origin: C57BL/10ScSn
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_DMD_6_MDX_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: C-to T- transition at position 3185 resulting in a termination codon in place of a glutamine codon resulting in a truncated protein.
Allele Type: Mutation (Knock Out)
Strain of Origin: Not Specified
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Jackson Laboratories

M_DMD_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Muscular fiber morphology1
Abnormal
Description: Severe muscular hypertrophy and dystrophy; muscle fiber necrosis; irregular diameter muscle fibers
Exp Paradigm: Light microscopic examination with hematoxylin-eosin staining and immunofluorescen staining using anti-dystrophin antibodies of histological sections of muscle
 Immunohistochemistry
 Unreported
Developmental trajectory1
Abnormal
Description: Abnormal behavior seeming disconcerted and restless in routine behavior
Exp Paradigm: General observations
 General observations
 Unreported
Protein expression level evidence1
Decreased
Description: Decreased expression of dystrophin in all myofibers
Exp Paradigm: Dystrophin protein expression
 Immunohistochemistry
 Unreported
Gene expression1
Decreased
Description: Decreased expression of full-length and short dystorphin isoform from muscle, cerebrum, and cerebellum
Exp Paradigm: Dystrophin gene expression
 Quantitative pcr (qrt-pcr)
 Unreported
Protein expression level evidence1
Decreased
Description: Decreased expression of dystrophin protein in muscle and brain
Exp Paradigm: Dystrophin protein expression
 Western blot
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_DMD_2_CN_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Gene expression1
Decreased
Description: Decreased expression of full-length dystrophin in cerebrum
Exp Paradigm: Dystrophin gene expression
 Quantitative pcr (qrt-pcr)
 Unreported
Muscular fiber morphology1
 No change
 Immunohistochemistry
 Unreported
Gene expression1
 No change
 Quantitative pcr (qrt-pcr)
 Unreported
Protein expression level evidence1
 No change
 Western blot
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_DMD_3_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Miniature post synaptic currents1
Decreased
Description: Decreased induction of inhibitory gabaergic postsynpatic currents (ipscs) in pyramidal neurons by norepinephrine (ne)
Exp Paradigm: Whole-cell patch clamp recording on pyramidal neurons in acute brain slices
 Whole-cell patch clamp
 5-6 weeks
Fear response1
Increased
Description: Increased time spent frozen after application of footshock
Exp Paradigm: Freezing response immediately after footshock
 Fear conditioning test
 Unreported
Acute stress response1
Increased
Description: Increased freezing behavior after application of emotionally aversive stimulus, restraint
Exp Paradigm: Freezing response after application of restraint
 Fear conditioning test
 Unreported
Cued or contextual fear conditioning1
Increased
Description: Increased freezing rate after application of conditioned footshock
Exp Paradigm: Freezing response immediately after conditioned application of footshock
 Fear conditioning test
 Unreported
Protein expression level evidence1
Decreased
Description: Absence of dystrophin immunochemical signal in basolateral nucleus of amygdala (bla) and lateral nucleus of amygdala (la)
Exp Paradigm: Dystrophin expression
 Immunohistochemistry
 10-14 weeks
Protein expression level evidence1
Decreased
Description: Decreased expression of gabaa receptor 2 subunit in basolateral nucleus of amygdala (bla)
Exp Paradigm: Gabaa receptor 2 subunit expression
 Immunohistochemistry
 10-14 weeks
Anxiety1
 No change
 Elevated plus maze test
 13-15 weeks
Protein expression level evidence1
 No change
 Immunohistochemistry
 10-14 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Immune response, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_DMD_4_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Synapse density1
Decreased
Description: Decreased number of axospinous excitatory synapses; density of non-perforated synapse
Exp Paradigm: Quantitative electron microscopic analysis of anterodorsal hippocampus
 Electron microscopy
 Unreported
Presynaptic function: paired-pulse facilitation1
Decreased
Description: Paired facilitation is reduced in the hippocampus of mutant mice
Exp Paradigm: NA
 NA
 3-4 months
Synaptic transmission1
Increased
Description: Increased slope of ampa/kainate receptor-mediated field excitatory postsynaptic potentials (fepsp), resulting in enhanced synaptic transmission
Exp Paradigm: Field recordings in ca1 hippocampal slices
 Field potential recordings
 3-4 months
Synaptic plasticity: hippocampal ltp1
Decreased
Description: Decreased magnitude of long term potentiation (ltp) in hippocampal slices
Exp Paradigm: Field recordings after two protocols of high frequency stimulation of hippocampal slices
 Field potential recordings
 3-4 months
Exploratory activity1
Decreased
Description: Decreased object exploration when exposed to a new set of objects
Exp Paradigm: NA
 NA
 3-8 months
Spatial learning1
Decreased
Description: Decreased spatial reference memory and spatial learning
Exp Paradigm: T-maze test for spatial memory; water maze test for spatial learning-t-maze test
 T-maze test
 3-8 months
Spatial learning1
Decreased
Description: Decreased spatial reference memory and spatial learning
Exp Paradigm: T-maze test for spatial memory; water maze test for spatial learning- morris water maze test
 Morris water maze test
 3-8 months
Cued or contextual fear conditioning: passive avoidance1
Decreased
Description: Decreased inhibitory avoidance demonstrated by shorter latency to enter electrified zone
Exp Paradigm: Latency to enter electrified zone
 Passive avoidance test
 3-8 months
Protein expression level evidence1
Decreased
Description: Abnormal expression of dapc proteins: decreased expression of beta-dystroglycan, and alpha-syntrophins. increased expression of gamma1-syntrophin. no change in expression of alpha-dystrobrevins
Exp Paradigm: Dystrophin associated protein complex (dapc) expression
 Western blot
 Unreported
Anxiety1
 No change
 Elevated plus maze test
 3-8 months
Cued or contextual fear conditioning1
 No change
 Fear conditioning test
 3-8 months
Object recognition memory1
 No change
 Novel object recognition test
 3-8 months
Protein expression level evidence1
 No change
 Western blot
 Unreported
General locomotor activity1
 No change
 Elevated plus maze test
 3-8 months
Grip strength1
 No change
 Wire hang test
 3-8 months
Grip strength1
 No change
 Inverted grid test
 3-8 months
Brain morphology1
 No change
 NA
 Unreported
Synaptic plasticity: hippocampal ltd1
 No change
 NA
 3-4 months
Synaptic plasticity: hippocampal ltp1
 No change
 NA
 3-4 months
Synaptic transmission1
 No change
 NA
 3-4 months
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Immune response, Maternal behavior, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_DMD_5_MDX_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Dendritic architecture: spine density1
Abnormal
Description: Abnormal dendritic spine density across branches: no change in density in second order dendritic branches, decreased density in third and fourth order branches, no change in overall number of spines in distal part of dendritic arbor
Exp Paradigm: Confocal image analysis of bda labeled cy3 neurons for determining dendritic density
 Histology
 Unreported
Brain cytoarchitecture1
Increased
Description: Increased number of labeled cells in primary motor (m1) and somatosensory (s1) cortex
Exp Paradigm: Histological analysis after injecting bda into m1 and s1 cortices
 Histology
 Unreported
Dendritic architecture: spine density1
Increased
Description: Increased length of the terminal dendritic branches, and terminal length ratio of dendrites
Exp Paradigm: Morphometric analysis of basal denrites in s1 cortex
 Golgi-cox staining
 Unreported
Protein expression level evidence1
Increased
Description: Increased expression of utrophin at the periphery of skeletal muscle fibers in both cremaster and rectus abdominus muscles
Exp Paradigm: Utrophin protein expression
 Immunohistochemistry
 Unreported
Protein expression level evidence1
Decreased
Description: Decreased dystrophin expression in muscles
Exp Paradigm: Dystrophin protein expression
 Immunohistochemistry
 6-13 months
Brain cytoarchitecture1
 No change
 Histology
 Unreported
Dendritic architecture: spine density1
 No change
 Histology
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_DMD_6_MDX_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Perivascular nerve neurotransmission1
Decreased
Description: Decreased perivascular nerve neurotransmission demonstrated by consistently decreased arteriolar response to pns in 1a or 2a
Exp Paradigm: Perivascular nerve stimulation
 Perivascular nerve stimulation
 Unreported
Protein expression level evidence1
Increased
Description: Increased expression of utrophin at the periphery of skeletal muscle fibers in both cremaster and rectus abdominus muscles
Exp Paradigm: Utrophin protein expression
 Western blot
 Unreported
Protein expression level evidence1
Decreased
Description: Decreased dystrophin expression in muscles
Exp Paradigm: Dystrophin protein expression
 Western blot
 6-13 months
Vasomotor function1
 No change
 Conducted vasomotor response measurement
 Unreported
Vasomotor function1
 No change
 Vasomotor tone measurement
 Unreported
Vasomotor function1
 No change
 NA
 Unreported
Muscle fiber contraction1
 No change
 NA
 Unreported
Muscle fiber contraction1
 No change
 NA
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior





Download DMD's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ACTA1 actin, alpha 1, skeletal muscle 58 P68133 NMR spectroscopy
Levine BA , et al. 1992
ANK2 ankyrin 2, neuronal 287 Q01484 in vitro binding assay
Ayalon G , et al. 2008
ANK3 ankyrin 3, node of Ranvier (ankyrin G) 288 Q12955 in vitro binding assay; GST
Ayalon G , et al. 2008
Cadps Ca2+-dependent secretion activator 27062 Q80TJ1 Y2H
Cisternas FA , et al. 2003
CADPS2 Ca++-dependent secretion activator 2 93664 Q86UW7 Y2H; High-throughput fluorescence polarization interaction analysis assay
Y2H
Cisternas FA , et al. 2003
Cadps2 Ca2+-dependent activator protein for secretion 2 320405 Q8BYR5 Y2H; High-throughput fluorescence polarization interaction analysis assay
Y2H
Cisternas FA , et al. 2003
CDK1 cyclin-dependent kinase 1 983 P06493 Metabolic labeling with 32P
Milner RE , et al. 1993
CELF2 CUGBP, Elav-like family member 2 10659 O95319 Luciferase reporter assay; ChIP
Martone J , et al. 2016
CTNNA1 catenin (cadherin-associated protein), alpha 1, 102kDa 1495 P35221 IP; LC-MS/MS
Huttlin EL , et al. 2015
CTNNAL1 catenin (cadherin-associated protein), alpha-like 1 8727 Q9UBT7 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
CTNNAL1 catenin (cadherin-associated protein), alpha-like 1 8727 Q9UBT7 IP; LC-MS/MS
Huttlin EL , et al. 2015
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1) 100009278 Q28685 GST; IP/WB; Affinity chromatography
Jung D , et al. 1995
DISC1 disrupted in schizophrenia 1 27185 Q9NRI5 Y2H
Camargo LM , et al. 2006
DMD dystrophin 1756 P11532 X-ray crystallography
Norwood FL , et al. 2000
DTNA dystrobrevin, alpha 1837 Q9Y4J8 IP; LC-MS/MS
Huttlin EL , et al. 2015
DTNA dystrobrevin, alpha 1837 Q9Y4J8 IP/WB; Y2H
Sadoulet-Puccio HM , et al. 1997
DTNB dystrobrevin, beta 1838 B7Z6A9 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
DTNB dystrobrevin, beta 1838 B7Z6A9 IP; LC-MS/MS
Huttlin EL , et al. 2015
FASLG Fas ligand (TNF superfamily, member 6) 356 P25445 IP/WB
Wenzel J , et al. 2001
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
Gsk3b glycogen synthase kinase 3 beta 84027 P18266 IP/WB; GST
Corts JC , et al. 2008
HAUS1 HAUS augmin-like complex, subunit 1 115106 Q96CS2 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
HAUS1 HAUS augmin-like complex, subunit 1 115106 Q96CS2 IP; LC-MS/MS
Huttlin EL , et al. 2015
HAUS4 HAUS augmin-like complex subunit 4 54930 Q9H6D7-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
IFIT5 interferon-induced protein with tetratricopeptide repeats 5 24138 Q13325 IP; LC-MS/MS
Huttlin EL , et al. 2015
KIF23 kinesin family member 23 9493 Q02241 IP; LC-MS/MS
Huttlin EL , et al. 2015
KRT19 keratin 19 3880 P08727 Surface plasmon resonance (SPR)
Stone MR , et al. 2005
LONRF3 LON peptidase N-terminal domain and ring finger 3 79836 Q496Y0 IP; LC-MS/MS
Huttlin EL , et al. 2015
LPAR6 Lysophosphatidic acid receptor 6 10161 P43657 IP; LC-MS/MS
Huttlin EL , et al. 2015
LRRC8E leucine rich repeat containing 8 family, member E 80131 Q6NSJ5 IP; LC-MS/MS
Huttlin EL , et al. 2015
MAP3K5 mitogen-activated protein kinase kinase kinase 5 4217 Q99683 Y2H
Bandyopadhyay S , et al. 2010
MIR146B microRNA 146b 574447 Luciferase reporter assay; Ectopic expression/WB
Fiorillo AA , et al. 2015
MIR31 microRNA 31 407035 N/A Luciferase reporter assay; Ectopic expression/WB
Fiorillo AA , et al. 2015
MIR374A microRNA 374a 442919 N/A Luciferase reporter assay; Ectopic expression/WB
Fiorillo AA , et al. 2015
MPP6 membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 51678 Q9NZW5 IP; LC-MS/MS
Huttlin EL , et al. 2015
NOS1 nitric oxide synthase 1 (neuronal) 4842 A0PJJ7 Biolayer interferometry
Molza AE , et al. 2015
OSBPL1A oxysterol binding protein-like 1A 114876 Q9BXW6 IP; LC-MS/MS
Huttlin EL , et al. 2015
SIRT2 sirtuin 2 22933 Q8IXJ6 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNTA1 syntrophin, alpha 1 6640 Q13424 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNTA1 syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) 100009179 Q28626 Overlay binding assay
Yang B , et al. 1995
SNTB1 syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) 6641 Q13884 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNTB1 syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) 6641 Q13884 IP/WB
Ahn AH and Kunkel LM 1995
SNTB2 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) 6645 Q13425 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNTB2 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) 6645 Q13425 IP/WB
Ahn AH , et al. 1996
SNTG1 syntrophin, gamma 1 54212 Q9NSN8 Y2H; GST
Piluso G , et al. 2000
SNTG2 syntrophin, gamma 2 54221 Q9NY99 Y2H; GST
Piluso G , et al. 2000
SNTG2 syntrophin, gamma 2 54221 Q9NY99 IP; LC-MS/MS
Huttlin EL , et al. 2015
TRIM41 tripartite motif containing 41 90933 Q8WV44 IP; LC-MS/MS
Huttlin EL , et al. 2015
UTRN utrophin 7402 P46939 IP; LC-MS/MS
Huttlin EL , et al. 2015
WDR54 WD repeat-containing protein 54 84058 Q9H977 IP; LC-MS/MS
Huttlin EL , et al. 2015
Cav3 caveolin 3 12391 P51637 IP/WB
Song KS , et al. 1996
Dgkz diacylglycerol kinase zeta 104418 Q80UP3 IP/WB
Hogan A , et al. 2001
Magee1 melanoma antigen, family E, 1 107528 Q6PCZ4 IP/WB
Albrecht DE and Froehner SC 2003
Nos1 nitric oxide synthase 1, neuronal 18125 Q9Z0J4 GST; sWGA affinity chromatography; IP/WB
Brenman JE , et al. 1995
Pgm5 phosphoglucomutase 5 226041 Q8BZF8 IP/WB; EMSA
Belkin AM and Burridge K 1995
Plec plectin 18810 Q9QXS1 IP/WB
Rezniczek GA , et al. 2007
Sgca sarcoglycan, alpha (dystrophin-associated glycoprotein) 20391 P82350 IP/WB
Matsumura K , et al. 1992
Sgcb sarcoglycan, beta (dystrophin-associated glycoprotein) 24051 P82349 IP/WB
Matsumura K , et al. 1992
Sgcd sarcoglycan, delta (dystrophin-associated glycoprotein) 24052 P82347 IP/WB
Matsumura K , et al. 1992
Sgcz sarcoglycan zeta 244431 Q8BX51 IP/WB
Wheeler MT , et al. 2002
Sp1 trans-acting transcription factor 1 20683 O89090 EMSA; ChIP; CAT reporter assay
de Len MB , et al. 2004
Sp3 1110003E12Rik, AA450830, AI845540, Sp1-1 20687 O70494 EMSA; ChIP; CAT reporter assay
de Len MB , et al. 2004
SYNM synemin, intermediate filament protein 23336 O15061 Overlay binding assay; GST
Bhosle RC , et al. 2006
Tnnt2 troponin T2, cardiac 21956 P50752 Overlay binding assay; Y2H
Pearlman JA , et al. 1994
Camk2a calcium/calmodulin-dependent protein kinase II alpha 25400 P11275 in vitro kinase assay; WB; Phosphopeptide mapping
Madhavan R and Jarrett HW 1994
Dtnb dystrobrevin, beta 362715 P84060 IP/WB
Blake DJ , et al. 1999
Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 29718 P18266 GST
Leonoudakis D , et al. 2004
Kcnj12 potassium inwardly-rectifying channel, subfamily J, member 12 117052 P52188 GST; MS
Leonoudakis D , et al. 2004
KCNJ4 potassium inwardly-rectifying channel, subfamily J, member 4 3761 P48050 GST; MS
Leonoudakis D , et al. 2004
MIB1 mindbomb E3 ubiquitin protein ligase 1 307594 D3ZUV2 Affinity chromatography; LC-MS/MS
Mertz J , et al. 2015

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