The Genetic Control of Stoichiometry Underlying Autism.
FMRP
RNA
stoichiometry
synaptic plasticity
translation
Journal
Annual review of neuroscience
ISSN: 1545-4126
Titre abrégé: Annu Rev Neurosci
Pays: United States
ID NLM: 7804039
Informations de publication
Date de publication:
08 07 2020
08 07 2020
Historique:
entrez:
10
7
2020
pubmed:
10
7
2020
medline:
3
8
2021
Statut:
ppublish
Résumé
Autism is a common and complex neurologic disorder whose scientific underpinnings have begun to be established in the past decade. The essence of this breakthrough has been a focus on families, where genetic analyses are strongest, versus large-scale, case-control studies. Autism genetics has progressed in parallel with technology, from analyses of copy number variation to whole-exome sequencing (WES) and whole-genome sequencing (WGS). Gene mutations causing complete loss of function account for perhaps one-third of cases, largely detected through WES. This limitation has increased interest in understanding the regulatory variants of genes that contribute in more subtle ways to the disorder. Strategies combining biochemical analysis of gene regulation, WGS analysis of the noncoding genome, and machine learning have begun to succeed. The emerging picture is that careful control of the amounts of transcription, mRNA, and proteins made by key brain genes-stoichiometry-plays a critical role in defining the clinical features of autism.
Identifiants
pubmed: 32640929
doi: 10.1146/annurev-neuro-100119-024851
pmc: PMC7593886
mid: NIHMS1633604
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
509-533Subventions
Organisme : NHGRI NIH HHS
ID : UM1 HG008901
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS034389
Pays : United States
Organisme : NINDS NIH HHS
ID : R35 NS097404
Pays : United States
Organisme : NINDS NIH HHS
ID : R56 NS034389
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS081706
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR000043
Pays : United States
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