Human Gene Module / Chromosome 5 / MSNP1AS

MSNP1ASMoesin pseudogene 1, antisense

Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
8 / 11
Rare Variants / Common Variants
0 / 5
Aliases
MSNP1AS, 
Associated Syndromes
-
Genetic Category
Genetic Association, Functional
Chromosome Band
Associated Disorders
-
Relevance to Autism

A noncoding RNA that is 94% identical and antisense to the MSN transcript is transcribed from a region of chromosome 5p14.1 that contains a genome-wide significant association with ASD with the SNP rs4307059. Individuals who carry the ASD-associated rs4307059 T allele showed increased expression of MSNP1AS. The noncoding RNA bound to MSN, was highly overexpressed (12.7-fold) in postmortem cerebral cortex of ASD cases, and could regulate levels of moesin protein in human cell lines (Kerin et al., 2012).

Molecular Function

A noncoding RNA encoded by the opposite (antisense) strand of moesin pseudogene 1 (MSNP1). Chromosome 5p14.1 MSNP1AS is 94% identical and antisense to the X chromosome transcript of MSN, which encodes a protein (moesin) that regulates neuronal architecture.

External Links
Reports related to MSNP1AS (11 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Highly Cited Common genetic variants on 5p14.1 associate with autism spectrum disorders. Wang K , et al. (2009) Yes -
2 Negative Association A genome-wide linkage and association scan reveals novel loci for autism. Weiss LA , et al. (2009) Yes -
3 Positive association Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population. St Pourcain B , et al. (2010) No -
4 Negative Association A genome-wide scan for common alleles affecting risk for autism. Anney R , et al. (2010) Yes -
5 Primary A noncoding RNA antisense to moesin at 5p14.1 in autism. Kerin T , et al. (2012) Yes -
6 Positive association The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families. Prandini P , et al. (2012) Yes -
7 Negative Association Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Anney R , et al. (2012) Yes -
8 Negative association Lack of replication of previous autism spectrum disorder GWAS hits in European populations. Torrico B , et al. (2016) Yes -
9 Recent recommendation Impact of the Autism-Associated Long Noncoding RNA MSNP1AS on Neuronal Architecture and Gene Expression in Human Neural Progenitor Cells. DeWitt JJ , et al. (2016) No -
10 Recent recommendation Transcriptional Gene Silencing of the Autism-Associated Long Noncoding RNA MSNP1AS in Human Neural Progenitor Cells. DeWitt JJ , et al. (2016) No -
11 Positive association Variants in TTC25 affect autistic trait in patients with autism spectrum disorder and general population. Vojinovic D , et al. (2017) Yes -
Rare Variants  

No rare variants reported.

Common Variants   (5)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type PubMed ID Author, Year
- C to T intergenic_variant - - - 19404256 Wang K , et al. (2009)
- C/T intergenic_variant - - - 22739633 Prandini P , et al. (2012)
- C/T intergenic_variant - - - 22935194 Connolly JJ , et al. (2012)
- G/A intergenic_variant - - - 28513607 Vojinovic D , et al. (2017)
- G/A intergenic_variant - - - 28513607 Vojinovic D , et al. (2017)
SFARI Gene score
2

Strong Candidate

PMID 19404256 showed genome-wide significant association of rs4307059 and five other chromosome 5p14.1 markers with ASD diagnosis. The association was not replicated in other GWAS (PMID 19812673, 20663923, and 22843504). PMID 22739633 provided support for association of rs4307059 with ASD diagnosis and PMID 20634369 provided evidence for association of rs4307059 with social communication phenotypes in the general population. PMID 22491950 identified MSNP1AS, a non-coding RNA encoded by the opposite (antisense) strand of moesin pseudogene 1 (MSNP1) that appears capable of regulating MSN protein expression. This report further showed that the ASD-associated rs4307059 genotype is correlated with MSNP1AS expression in postmortem cortex, and described a 12-fold increase in expression in postmortem brains of individuals with ASD compared to controls. Association analysis of 160 nuclear Belgian Flemish families with at least one subject with ASD identified two intergenic SNPs in the 5p14.1 region that showed suggestive association (P < 1.0E-05) with the binary ASD phenotype (Vojinovic et al., 2017). Overexpression of MSNP1AS in human neural progenitor cell lines resulted in decreased neurite number and neurite length (DeWitt et al., 2016).

2

Strong Candidate

See all Category 2 Genes

We considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.

04-01-2017
2

Initial score established: 2

Description

PMID 19404256 showed genome-wide significant association of rs4307059 and five other chromosome 5p14.1 markers with ASD diagnosis. The association was not replicated in other GWAS (PMID 19812673, 20663923, and 22843504). PMID 22739633 provided support for association of rs4307059 with ASD diagnosis and PMID 20634369 provided evidence for association of rs4307059 with social communication phenotypes in the general population. PMID 22491950 identified MSNP1AS, a non-coding RNA encoded by the opposite (antisense) strand of moesin pseudogene 1 (MSNP1) that appears capable of regulating MSN protein expression. This report further showed that the ASD-associated rs4307059 genotype is correlated with MSNP1AS expression in postmortem cortex, and described a 12-fold increase in expression in postmortem brains of individuals with ASD compared to controls. Association analysis of 160 nuclear Belgian Flemish families with at least one subject with ASD identified two intergenic SNPs in the 5p14.1 region that showed suggestive association (P < 1.0E-05) with the binary ASD phenotype (Vojinovic et al., 2017). Overexpression of MSNP1AS in human neural progenitor cell lines resulted in decreased neurite number and neurite length (DeWitt et al., 2016).

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