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Relevance to Autism

TYR-transgenic mice display multiple autism-like behaviors, including deficits in social interaction and interest, abnormalities in pup and juvenile ultrasonic vocalization communications, and repetitive stereotypies (Hamilton et al., 2011).

Molecular Function

The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation.

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References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Multiple autism-like behaviors in a novel transgenic mouse model.
Support
Large-scale discovery of novel genetic causes of developmental disorders.
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN422R001 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN422R002 
 missense_variant;missense_variant 
 c.[613C>A];[1118C>A] 
 p.[Pro205Thr];[Thr373Lys] 
 Familial 
 Maternal and Paternal 
 Multi-generational 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Duplication
 1
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Deletion-Duplication
 9
 

Model Summary

Mutant mice showed deficits in social interaction and interest, abnormalities in pup and juvenile ultrasonic vocalization communications, and exhibited a repetitive stereotypy. Abnormalities were also observed in the domain of sensory function.

References

Type
Title
Author, Year
Primary
Multiple autism-like behaviors in a novel transgenic mouse model.

M_TYR_1_Tg_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Tyrosinase transgene with a 2.1kb promoter and sequence from the 5'-end of Moloney murine leukemia virus (MuLV) inserted into non-coding region of X chromosome.
Allele Type: Targeted (Transgene)
Strain of Origin: FVB/N
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_TYR_1_Tg_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity1
Increased
Description: Increased locomotor activity indicative of hyperactivity
Exp Paradigm: Open field test
 Open field test
 Unreported
Brain size1
Decreased
Description: Decreased brain weight
Exp Paradigm: Brain weight analysis
 Pathology: brain weight
 Unreported
Circling1
Increased
Description: Increased circling sterotypy motion
Exp Paradigm: Male Mice: Measurement of total revolutions/total distance traveled
 Home cage behavior: circling
 Unreported
Touch1
Increased
Description: Increased sensitivity to paw-touch demonstrated by lower touch response threshold
Exp Paradigm: Paw-touch withdrawl test
 Von Frey filament test
 Unreported
Sensorimotor gating1
Decreased
Description: Decreased sensorimotor gating
Exp Paradigm: Pre-pulse inhibition
 Prepulse inhibition
 P17-P45
Social interaction1
Decreased
Description: Decreased social interaction indicated by less time engaged in active social interaction
Exp Paradigm: Three-cambered partition test; Direct social interaction test-Three-chamber social approach test
 Three-chamber social approach test
 Unreported
Social interaction1
Decreased
Description: Decreased social interaction indicated by less time engaged in active social interaction
Exp Paradigm: Three-cambered partition test; Direct social interaction test- Reciprocal social interaction test
 Reciprocal social interaction test
 Unreported
Aggression1
Increased
Description: Increased aggression towards littermates
Exp Paradigm: Inter-male home cage behavior
 Home cage behavior: onset of aggression marks
 Unreported
Ultrasonic vocalization1
Decreased
Description: Decreased dydadic communication demonstrated by decreased total ultrasonic vocalization from mutant and WT mice pair
Exp Paradigm: Call latency towards unfamiliar mouse
 Monitoring ultrasonic vocalizations: reciprocal social interaction test: juvenile play
 Unreported
Ultrasonic vocalization1
Increased
Description: Increased ultrasonic vocalizations along with shift in ultrasonic vocalization developmental curve
Exp Paradigm: Maternal separation calls
 Monitoring ultrasonic vocalizations: maternal separation
 Unreported
Gene expression1
Increased
Description: Increased expression of genes Gm732 and Fam46D
Exp Paradigm: Chromosomal Gene Expression
 Gene expression microarray
 P0-P1, P40
Ultrasonic vocalization1
 No Change
 Monitoring ultrasonic vocalizations: maternal separation
 P8
Size/growth1
 No Change
 General observations
 Unreported
Brain morphology1
 No Change
 Immunohistochemistry: fluorescence
 Unreported
Core body temperature1
 No Change
 Body temperature measurement
 Unreported
Seizures1
 No Change
 Audiogenic Seizure test
 Unreported
Hearing1
 No Change
 Auditory brainstem response test
 2 months
Olfaction1
 No Change
 Olfactory discrimination test: cotton-swab
 Unreported
Olfaction1
 No Change
 Olfactory habituation-dishabituation test
 Unreported
Startle response: acoustic stimulus1
 No Change
 Acoustic startle reflex test: white noise stimulus
 P17-P45
Vestibulo-ocular reflex1
 No Change
 Righting reflex test
 Unreported
Vestibulo-ocular reflex1
 No Change
 Swim test
 Unreported
Passive social behavior1
 No Change
 Reciprocal social interaction test
 Unreported
 Not Reported: Circadian sleep/wake cycle, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Neurophysiology

 

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