Proteomics

Dataset Information

0

SynGAP variant from Japanese ALS cohort alters the recruitment of RNA binding proteins


ABSTRACT: FUS is one of the pathogenic RNA-binding proteins for amyotrophic lateral sclerosis (ALS). We previously reported that FUS stabilized SynGAP mRNA at its 3’UTR and maintained spine maturation and cognitive function in mice. To elucidate whether this mechanism could be pathogenic for ALS, we identified SynGAP 3’UTR variant at the binding site of FUS, different from that in mice, from a multicenter cohort in Japan. Human induced pluripotent stem cells (hiPSC)-derived motor neurons with SynGAP variant showed spine abnormality with aberrant SynGAP splicing. To evaluate how SynGAP variant altered the access of RNA binding proteins to SynGAP 3'UTR, we performed pull down assay by using biotinylated RNA probes with or without the variant.

INSTRUMENT(S): Orbitrap Fusion

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Motor Neuron, Cell Culture

DISEASE(S): Amyotrophic Lateral Sclerosis

SUBMITTER: Satoshi Yokoi  

LAB HEAD: Masahisa Katsuno

PROVIDER: PXD026586 | Pride | 2023-03-11

REPOSITORIES: Pride

Dataset's files

Source:
Action DRS
01_iPS1.mzid.gz Mzid
01_iPS1_4uL_01.raw Raw
01_iPS1_4uL_02.raw Raw
02_iPS2.mzid.gz Mzid
02_iPS2_4uL_01.raw Raw
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Publications

The <i>SYNGAP1</i> 3'UTR Variant in ALS Patients Causes Aberrant <i>SYNGAP1</i> Splicing and Dendritic Spine Loss by Recruiting HNRNPK.

Yokoi Satoshi S   Ito Takuji T   Sahashi Kentaro K   Nakatochi Masahiro M   Nakamura Ryoichi R   Tohnai Genki G   Fujioka Yusuke Y   Ishigaki Shinsuke S   Udagawa Tsuyoshi T   Izumi Yuishin Y   Morita Mitsuya M   Kano Osamu O   Oda Masaya M   Sone Takefumi T   Okano Hideyuki H   Atsuta Naoki N   Katsuno Masahisa M   Okada Yohei Y   Sobue Gen G  

The Journal of neuroscience : the official journal of the Society for Neuroscience 20221019 47


Fused in sarcoma (FUS) is a pathogenic RNA-binding protein in amyotrophic lateral sclerosis (ALS). We previously reported that FUS stabilizes Synaptic Ras-GTPase activating protein 1 (<i>Syngap1</i>) mRNA at its 3' untranslated region (UTR) and maintains spine maturation. To elucidate the pathologic roles of this mechanism in ALS patients, we identified the <i>SYNGAP1</i> 3'UTR variant rs149438267 in seven (four males and three females) out of 807 ALS patients at the FUS binding site from a mult  ...[more]

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