Dataset Information

Exome sequencing to identify de novo mutations in sporadic ALS trios.

ABSTRACT: Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease whose causes are still poorly understood. To identify additional genetic risk factors, we assessed the role of de novo mutations in ALS by sequencing the exomes of 47 ALS patients and both of their unaffected parents (n = 141 exomes). We found that amino acid-altering de novo mutations were enriched in genes encoding chromatin regulators, including the neuronal chromatin remodeling complex (nBAF) component SS18L1 (also known as CREST). CREST mutations inhibited activity-dependent neurite outgrowth in primary neurons, and CREST associated with the ALS protein FUS. These findings expand our understanding of the ALS genetic landscape and provide a resource for future studies into the pathogenic mechanisms contributing to sporadic ALS.

SUBMITTER: Chesi A

PROVIDER: S-EPMC3709464 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Exome sequencing to identify de novo mutations in sporadic ALS trios.

Chesi Alessandra A Staahl Brett T BT Jovičić Ana A Couthouis Julien J Fasolino Maria M Raphael Alya R AR Yamazaki Tomohiro T Elias Laura L Polak Meraida M Kelly Crystal C Williams Kelly L KL Fifita Jennifer A JA Maragakis Nicholas J NJ Nicholson Garth A GA King Oliver D OD Reed Robin R Crabtree Gerald R GR Blair Ian P IP Glass Jonathan D JD Gitler Aaron D AD

Nature neuroscience 20130526 7

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease whose causes are still poorly understood. To identify additional genetic risk factors, we assessed the role of de novo mutations in ALS by sequencing the exomes of 47 ALS patients and both of their unaffected parents (n = 141 exomes). We found that amino acid-altering de novo mutations were enriched in genes encoding chromatin regulators, including the neuronal chromatin remodeling complex (nBAF) component SS18L1 (als ...[more]

PMID: 23708140

Dataset Information

Exome sequencing to identify de novo mutations in sporadic ALS trios.

Publications

Exome sequencing to identify de novo mutations in sporadic ALS trios.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets

Similar Datasets

Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.
| S-EPMC4360641 | biostudies-literature

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
| S-EPMC3115696 | biostudies-literature

Whole-exome sequencing for finding de novo mutations in sporadic mental retardation.
| S-EPMC3046476 | biostudies-literature

Whole-Exome Sequencing in Family Trios Reveals De Novo Mutations Associated with Type 1 Diabetes Mellitus.
| S-EPMC10044903 | biostudies-literature

Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations.
| S-EPMC7007385 | biostudies-literature

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.
| S-EPMC4251168 | biostudies-literature

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.
| S-EPMC4634375 | biostudies-literature

De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
| S-EPMC3667984 | biostudies-literature

Trio-based exome sequencing arrests de novo mutations in early-onset high myopia.
| S-EPMC5402409 | biostudies-literature

Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.
| S-EPMC7332647 | biostudies-literature