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Relevance to Autism

Genetic association has been found between the PITX1 gene and autism in an AGRE cohort (Philippi et al., 2007).

Molecular Function

Transcription factor

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis.
ASD
Negative Association
The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Highly Cited
Role of the Bicoid-related homeodomain factor Pitx1 in specifying hindlimb morphogenesis and pituitary development.
Recent Recommendation
Pelvic skeleton reduction and Pitx1 expression in threespine stickleback populations.
Recent Recommendation
A genetic screen identifies PITX1 as a suppressor of RAS activity and tumorigenicity.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN196R001 
 missense_variant 
 c.724C>T 
 p.Leu242Phe 
 De novo 
  
 Simplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN196C001 
 downstream_gene_variant 
 rs28330 
  
 N/A 
 AGRE 
 Discovery 
 GEN196C002 
 intron_variant 
 rs3805663 
 c.402+766T>C 
 N/A 
 AGRE 
 Discovery 
 GEN196C003 
 5KB_upstream_variant 
 rs1700488 
 c.-562+5647G>A 
  
 AGRE 
 Discovery 
 GEN196C004 
 synonymous_variant 
 rs1131611 
 c.418C>A 
 p.(=) 
 AGRE 
 Discovery 
 GEN196C005 
 intron_variant 
 rs11959298 
 c.-2252A>G;c.170-342T>C 
 G/A 
 AGRE 
 Discovery 
 GEN196C006 
 intron_variant 
 rs6872664 
 c.-2194C>T;c.170-400G>A 
 T to C 
 AGRE 
 Discovery 
 GEN196C007 
 intron_variant 
 rs6596188 
 c.-1689A>T;c.170-905T>A 
 T to A 
 AGRE 
 Discovery 
 GEN196C008 
 intron_variant 
 rs6596189 
 c.-1623C>T;c.170-971G>A 
 T to C 
 AGRE 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
5
Duplication
 1
 
5
Deletion
 1
 
5
Deletion
 2
 
5
Duplication
 1
 
5
Deletion-Duplication
 9
 
5
Deletion
 2
 

Model Summary

The dual role of Ptx1 revealed by the gene knockout may reflect features of the mammalian jaw and hindlimbs that were acquired at a similar time during tetrapod evolution.

References

Type
Title
Author, Year
Primary
Hindlimb patterning and mandible development require the Ptx1 gene.

M_PITX1_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Targeted replacement of fragment encompassing the second homeodomain containing exon 2 OF Ptx1 gene.
Allele Type: Targeted (Knock Out)
Strain of Origin: Sv129xBalb/c
Genetic Background: Not Specified
ES Cell Line: R1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_PITX1_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Developmental trajectory1
Abnormal
Description: Abnormal phenotype: shortening of the jaw (micrognathia); hindlimb deficit
Exp Paradigm: General observations
 General observations
 E17.5
Skeletal development1
Abnormal
Description: Abnormal cranio-facial features; severe micrognathia, cleft palate, bifurcate tongue; abnormal palatal shelves; no change in tooth development; abnormal proximal part of mandible
Exp Paradigm: Macroscopical analysis; histology
 Histology
 E14.5
Developmental trajectory1
Abnormal
Description: Abnormal patella and fabella, and cartilage of the distal femur and tibia heads; shorter and narrower tibias; no change in hindlimb digits
Exp Paradigm: General observations
 General observations
 E17.5
Mortality/lethality1
Increased
Description: Increased lethality at birth
Exp Paradigm: General observations
 General observations
 Unreported
Developmental trajectory1
Decreased
Description: Reduced abnormal calcification of tibia; narrower cortical bone and less trabecular bone
Exp Paradigm: Histological analysis
 Histology
 E17.5
Gene expression1
Decreased
Description: Absence of ptx1 mrna in mandibles
Exp Paradigm: Ptx1 mrna expression
 Northern blot
 E13.5
Developmental trajectory1
 No change
 General observations
 E17.5
General characteristics1
 No change
 General observations
 E12.5
Gene expression1
 No change
 In situ hybridization (ish)
 E10.5-e13.5
 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





Download PITX1's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit 79868 Q9NP73 Y2H
Corominas R , et al. 2014
C1ORF94 chromosome 1 open reading frame 94 84970 Q6P1W5 Y2H
Corominas R , et al. 2014
CDX4 caudal type homeobox 4 1046 O14627 Y2H
Corominas R , et al. 2014
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 ChIP-chip
Subtil-Rodrguez A , et al. 2013
DVL3 dishevelled, dsh homolog 3 (Drosophila) 1857 Q92997 Y2H
Rual JF , et al. 2005
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
HGS hepatocyte growth factor-regulated tyrosine kinase substrate 9146 O14964 Y2H
Corominas R , et al. 2014
LZTS2 leucine zipper, putative tumor suppressor 2 84445 Q9BRK4 Y2H
Corominas R , et al. 2014
MAGED1 melanoma antigen family D, 1 9500 Q9Y5V3 Y2H
Corominas R , et al. 2014
MGAT5B mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 146664 Q3V5L5 Y2H
Corominas R , et al. 2014
PLSCR1 phospholipid scramblase 1 5359 O15162 Y2H
Corominas R , et al. 2014
PRR20A proline rich 20A 122183 P86478 Y2H
Corominas R , et al. 2014
RBPMS RNA binding protein with multiple splicing 11030 Q93062 Y2H
Rual JF , et al. 2005
RBPMS RNA binding protein with multiple splicing 11030 Q93062 Y2H
Corominas R , et al. 2014
RBPMS RNA binding protein with multiple splicing 11030 Q93062 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
RFX6 regulatory factor X, 6 222546 Q8HWS3 Y2H
Corominas R , et al. 2014
RHOXF2 Rhox homeobox family, member 2 84528 Q9BQY4 Y2H
Rual JF , et al. 2005
RNF31 ring finger protein 31 55072 Q96EP0 Y2H
Corominas R , et al. 2014
SPAG8 sperm associated antigen 8 26206 Q99932 Y2H
Corominas R , et al. 2014
TOP3B topoisomerase (DNA) III beta 8940 O95985 HITS-CLIP
Xu D , et al. 2013
TRIM23 tripartite motif containing 23 373 P36406 Y2H
Corominas R , et al. 2014
ZBTB32 zinc finger and BTB domain containing 32 27033 Q9Y2Y4 Y2H
Corominas R , et al. 2014

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