MIR137microRNA 137
Autism Reports / Total Reports
2 / 10Rare Variants / Common Variants
8 / 2Aliases
MIR137, MIRN137, miR-137Associated Syndromes
-Chromosome Band
1p21.3Associated Disorders
DD/NDD, ID, ASDRelevance to Autism
1p21.3 microdeletions affecting MIR137 have been identified in individuals with ASD (Carter et al., 2011), intellectual disability (Willemsen et al., 2011), and syndromic obesity (D'Angelo et al., 2015; Tucci et al., 2016). MIR137 resides within a locus on chromosome 1p21.3 that was found to be highly associated with schizophrenia in meta-analyses combining multiple genome-wide association studies (Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium 2011; Cross-Disorder Group of the Psychiatric Genomics Consortium 2013; Ripke et al., 2013; Schizophrenia Working Group of the Psychiatric Genomics Consortium 2014). A rare functional enhancer variant approximately 3.6 kb upstream of MIR137 (1:g.98515539A>T) was found to be associated with schizophrenia and bipolar disorder (Duan et al., 2014). Partial loss of Mir137 in heterozygous conditional-knockout mice was found to result in dysregulated synaptic plasticity, repetitive behavior, and impaired learning and social behavior; treatment with the Pde10a inhibitor papaverine or knockdown of Pde10a ameliorated these deficits (Cheng et al., 2018).
Molecular Function
microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA.
External Links
SFARI Genomic Platforms
Reports related to MIR137 (10 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Primary | Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder | Carter MT , et al. (2010) | Yes | - |
| 2 | Positive Association | Genome-wide association study identifies five new schizophrenia loci | Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium (2011) | No | - |
| 3 | Support | Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability | Willemsen MH , et al. (2011) | No | Autistic features |
| 4 | Positive Association | Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis | Cross-Disorder Group of the Psychiatric Genomics Consortium (2013) | Yes | - |
| 5 | Positive Association | Genome-wide association analysis identifies 13 new risk loci for schizophrenia | Ripke S , et al. (2013) | No | - |
| 6 | Positive Association | Biological insights from 108 schizophrenia-associated genetic loci | Schizophrenia Working Group of the Psychiatric Genomics Consortium (2014) | No | - |
| 7 | Support | A rare functional noncoding variant at the GWAS-implicated MIR137/MIR2682 locus might confer risk to schizophrenia and bipolar disorder | Duan J , et al. (2014) | No | - |
| 8 | Support | Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity | D'Angelo CS , et al. (2015) | No | DD, ID, autistic features |
| 9 | Support | MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions | Tucci A , et al. (2016) | No | ASD, DD, ID |
| 10 | Recent recommendation | Partial loss of psychiatric risk gene Mir137 in mice causes repetitive behavior and impairs sociability and learning via increased Pde10a | Cheng Y , et al. (2018) | No | - |
Rare Variants (8)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| - | - | 5KB_upstream_variant | - | - | - | 25434007 | Duan J , et al. (2014) | |
| - | - | copy_number_loss | De novo | - | - | 26279650 | D'Angelo CS , et al. (2015) | |
| - | - | copy_number_loss | Unknown | - | - | 26279650 | D'Angelo CS , et al. (2015) | |
| - | - | copy_number_loss | De novo | - | - | 22003227 | Willemsen MH , et al. (2011) | |
| - | - | copy_number_loss | De novo | - | Simplex | 27822311 | Tucci A , et al. (2016) | |
| - | - | copy_number_loss | De novo | - | Simplex | 21114665 | Carter MT , et al. (2010) | |
| - | - | copy_number_loss | De novo | - | Multiplex | 21114665 | Carter MT , et al. (2010) | |
| - | - | copy_number_loss | Familial | - | Multiplex | 22003227 | Willemsen MH , et al. (2011) |
Common Variants (2)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| - | - | intron_variant | - | - | - | 23453885 | Cross-Disorder Group of the Psychiatric Genomics Consortium (2013) | |
| - | - | intron_variant | - | - | - | 21926974 | Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium (2011) |
SFARI Gene score
Strong Candidate
1p21.3 microdeletions affecting MIR137 have been identified in individuals with ASD (Carter et al., 2011), intellectual disability (Willemsen et al., 2011), and syndromic obesity (D'Angelo et al., 2015; Tucci et al., 2016). MIR137 resides within a locus on chromosome 1p21.3 that was found to be highly associated with schizophrenia in meta-analyses combining multiple genome-wide association studies (Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium 2011; Cross-Disorder Group of the Psychiatric Genomics Consortium 2013; Ripke et al., 2013; Schizophrenia Working Group of the Psychiatric Genomics Consortium 2014). A rare functional enhancer variant approximately 3.6 kb upstream of MIR137 (1:g.98515539A>T) was found to be associated with schizophrenia and bipolar disorder (Duan et al., 2014). Partial loss of Mir137 in heterozygous conditional-knockout mice was found to result in dysregulated synaptic plasticity, repetitive behavior, and impaired learning and social behavior; treatment with the Pde10a inhibitor papaverine or knockdown of Pde10a ameliorated these deficits (Cheng et al., 2018).
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe 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.
10/1/2019
Decreased from 3 to 2
New Scoring Scheme
Description
1p21.3 microdeletions affecting MIR137 have been identified in individuals with ASD (Carter et al., 2011), intellectual disability (Willemsen et al., 2011), and syndromic obesity (D'Angelo et al., 2015; Tucci et al., 2016). MIR137 resides within a locus on chromosome 1p21.3 that was found to be highly associated with schizophrenia in meta-analyses combining multiple genome-wide association studies (Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium 2011; Cross-Disorder Group of the Psychiatric Genomics Consortium 2013; Ripke et al., 2013; Schizophrenia Working Group of the Psychiatric Genomics Consortium 2014). A rare functional enhancer variant approximately 3.6 kb upstream of MIR137 (1:g.98515539A>T) was found to be associated with schizophrenia and bipolar disorder (Duan et al., 2014). Partial loss of Mir137 in heterozygous conditional-knockout mice was found to result in dysregulated synaptic plasticity, repetitive behavior, and impaired learning and social behavior; treatment with the Pde10a inhibitor papaverine or knockdown of Pde10a ameliorated these deficits (Cheng et al., 2018).
Reports Added
[New Scoring Scheme]10/1/2018
Increased from to 3
Description
1p21.3 microdeletions affecting MIR137 have been identified in individuals with ASD (Carter et al., 2011), intellectual disability (Willemsen et al., 2011), and syndromic obesity (D'Angelo et al., 2015; Tucci et al., 2016). MIR137 resides within a locus on chromosome 1p21.3 that was found to be highly associated with schizophrenia in meta-analyses combining multiple genome-wide association studies (Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium 2011; Cross-Disorder Group of the Psychiatric Genomics Consortium 2013; Ripke et al., 2013; Schizophrenia Working Group of the Psychiatric Genomics Consortium 2014). A rare functional enhancer variant approximately 3.6 kb upstream of MIR137 (1:g.98515539A>T) was found to be associated with schizophrenia and bipolar disorder (Duan et al., 2014). Partial loss of Mir137 in heterozygous conditional-knockout mice was found to result in dysregulated synaptic plasticity, repetitive behavior, and impaired learning and social behavior; treatment with the Pde10a inhibitor papaverine or knockdown of Pde10a ameliorated these deficits (Cheng et al., 2018).