Aliases: MIRN137, miR-137
Chromosome No: 1
Chromosome Band: 1p21.3
Genetic Category: Rare single gene variant-Genetic association-Syndromic-Functional
ASD Reports: 10
Recent Reports: 1
Annotated variants: 11
Associated CNVs: 9
Evidence score: 0
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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.
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