RGD Reference Report - Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. - Rat Genome Database

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Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.

Authors: Vance, C  Rogelj, B  Hortobagyi, T  De Vos, KJ  Nishimura, AL  Sreedharan, J  Hu, X  Smith, B  Ruddy, D  Wright, P  Ganesalingam, J  Williams, KL  Tripathi, V  Al-Saraj, S  Al-Chalabi, A  Leigh, PN  Blair, IP  Nicholson, G  De Belleroche, J  Gallo, JM  Miller, CC  Shaw, CE 
Citation: Vance C, etal., Science. 2009 Feb 27;323(5918):1208-11. doi: 10.1126/science.1165942.
RGD ID: 9685712
Pubmed: PMID:19251628   (View Abstract at PubMed)
PMCID: PMC4516382   (View Article at PubMed Central)
DOI: DOI:10.1126/science.1165942   (Journal Full-text)

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that is familial in 10% of cases. We have identified a missense mutation in the gene encoding fused in sarcoma (FUS) in a British kindred, linked to ALS6. In a survey of 197 familial ALS index cases, we identified two further missense mutations in eight families. Postmortem analysis of three cases with FUS mutations showed FUS-immunoreactive cytoplasmic inclusions and predominantly lower motor neuron degeneration. Cellular expression studies revealed aberrant localization of mutant FUS protein. FUS is involved in the regulation of transcription and RNA splicing and transport, and it has functional homology to another ALS gene, TARDBP, which suggests that a common mechanism may underlie motor neuron degeneration.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
amyotrophic lateral sclerosis type 6  IAGP 9685712DNA:mutations:cds:RGD 
amyotrophic lateral sclerosis type 6  ISOFUS (Homo sapiens)9685712; 9685712DNA:mutations:cds:RGD 

Objects Annotated

Genes (Rattus norvegicus)
Fus  (Fus RNA binding protein)

Genes (Mus musculus)
Fus  (fused in sarcoma)

Genes (Homo sapiens)
FUS  (FUS RNA binding protein)


Additional Information