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PMID:26627310

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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

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:JKIP1

involved_in

GO:0021756: striatum development

ECO:0000305: curator inference used in manual assertion

GO:2000767

P

Seeded From UniProt

complete

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

Notes

See also

References

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