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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.

journal_name

Nat Neurosci

journal_title

Nature neuroscience

authors

Chesi A,Staahl BT,Jovičić A,Couthouis J,Fasolino M,Raphael AR,Yamazaki T,Elias L,Polak M,Kelly C,Williams KL,Fifita JA,Maragakis NJ,Nicholson GA,King OD,Reed R,Crabtree GR,Blair IP,Glass JD,Gitler AD

doi

10.1038/nn.3412

subject

Has Abstract

pub_date

2013-07-01 00:00:00

pages

851-5

issue

7

eissn

1097-6256

issn

1546-1726

pii

nn.3412

journal_volume

16

pub_type

杂志文章

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