Exome sequencing to identify de novo mutations in sporadic ALS trios

A Chesi, BT Staahl, A Jovičić, J Couthouis… - Nature …, 2013 - nature.com
A Chesi, BT Staahl, A Jovičić, J Couthouis, M Fasolino, AR Raphael, T Yamazaki, L Elias…
Nature neuroscience, 2013nature.com
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 …
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.
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