PMID:26627310

Citation	Berg, JM, Lee, C, Chen, L, Galvan, L, Cepeda, C, Chen, JY, Peñagarikano, O, Stein, JL, Li, A, Oguro-Ando, A, Miller, JA, Vashisht, AA, Starks, ME, Kite, EP, Tam, E, Gdalyahu, A, Al-Sharif, NB, Burkett, ZD, White, SA, Fears, SC, Levine, MS, Wohlschlegel, JA and Geschwind, DH (2015) JAKMIP1, a Novel Regulator of Neuronal Translation, Modulates Synaptic Function and Autistic-like Behaviors in Mouse. Neuron 88:1173-1191
Abstract	Autism spectrum disorder (ASD) is a heritable, common neurodevelopmental disorder with diverse genetic causes. Several studies have implicated protein synthesis as one among several of its potential convergent mechanisms. We originally identified Janus kinase and microtubule-interacting protein 1 (JAKMIP1) as differentially expressed in patients with distinct syndromic forms of ASD, fragile X syndrome, and 15q duplication syndrome. Here, we provide multiple lines of evidence that JAKMIP1 is a component of polyribosomes and an RNP translational regulatory complex that includes fragile X mental retardation protein, DEAD box helicase 5, and the poly(A) binding protein cytoplasmic 1. JAKMIP1 loss dysregulates neuronal translation during synaptic development, affecting glutamatergic NMDAR signaling, and results in social deficits, stereotyped activity, abnormal postnatal vocalizations, and other autistic-like behaviors in the mouse. These findings define an important and novel role for JAKMIP1 in neural development and further highlight pathways regulating mRNA translation during synaptogenesis in the genesis of neurodevelopmental disorders.
Links	PubMed PMC4829343 Online version:10.1016/j.neuron.2015.10.031
Keywords	Adaptor Proteins, Signal Transducing/physiology; Animals; Autism Spectrum Disorder/genetics; Autism Spectrum Disorder/metabolism; Gene Regulatory Networks/physiology; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Neurons/physiology; Protein Biosynthesis/physiology; Proteomics/methods; RNA-Binding Proteins/physiology; Synapses/physiology
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Annotations

Gene product	Qualifier	GO Term	Evidence Code	with/from	Aspect	Extension	Notes	Status
MOUSE:NMDE1	part_of	GO:0043005: neuron projection	ECO:0000314: direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
MOUSE:NMDE1	part_of	GO:0120038: plasma membrane bounded cell projection part	ECO:0000304: author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
MOUSE:NMDE1	part_of	GO:0017146: NMDA selective glutamate receptor complex	ECO:0000304: author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
MOUSE:NMDE2	part_of	GO:0017146: NMDA selective glutamate receptor complex	ECO:0000304: author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
MOUSE:NMDE2	part_of	GO:0120038: plasma membrane bounded cell projection part	ECO:0000304: author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
MOUSE:NMDE2	part_of	GO:0043005: neuron projection	ECO:0000314: direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
MOUSE:SHAN3	part_of	GO:0043005: neuron projection	ECO:0000314: direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
MOUSE:SHAN3	part_of	GO:0120038: plasma membrane bounded cell projection part	ECO:0000304: author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
MOUSE:SHAN3	part_of	GO:0017146: NMDA selective glutamate receptor complex	ECO:0000304: author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
MOUSE:SHAN2	part_of	GO:0043005: neuron projection	ECO:0000314: direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
MOUSE:SHAN2	part_of	GO:0120038: plasma membrane bounded cell projection part	ECO:0000304: author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
MOUSE:SHAN2	part_of	GO:0017146: NMDA selective glutamate receptor complex	ECO:0000304: author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
MOUSE:DDX5	part_of	GO:0035770: ribonucleoprotein granule	ECO:0000314: direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
MOUSE:FMR1	enables	GO:0003729: mRNA binding	ECO:0000314: direct assay evidence used in manual assertion		F	has_input:(MGI:MGI:101864) has_input:(MGI:MGI:1277959) has_input:(MGI:MGI:2138865) has_input:(MGI:MGI:88059) has_input:(MGI:MGI:88256)	Seeded From UniProt	complete
MOUSE:FMR1	part_of	GO:0035770: ribonucleoprotein granule	ECO:0000314: direct assay evidence used in manual assertion		C		Seeded From UniProt	complete

References

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