Human Gene Module / Chromosome 1 / MIR137

MIR137microRNA 137

Score
3
Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
2 / 10
Rare Variants / Common Variants
8 / 2
Aliases
MIR137, MIRN137,  miR-137
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation, Syndromic, Genetic Association, Functional
Chromosome Band
1p21.3
Associated Disorders
ID, ASD, DD/NDD
Relevance 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.

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)
CNVs associated with MIR137(1 CNVs)
1p21.3 13 Deletion-Duplication 24  /  54
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