Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity.
CFTR
cotranslational folding
mutations
synonymous SNP
translation
Journal
Proceedings of the National Academy of Sciences of the United States of America
ISSN: 1091-6490
Titre abrégé: Proc Natl Acad Sci U S A
Pays: United States
ID NLM: 7505876
Informations de publication
Date de publication:
26 01 2021
26 01 2021
Historique:
entrez:
20
1
2021
pubmed:
21
1
2021
medline:
12
6
2021
Statut:
ppublish
Résumé
Epistasis refers to the dependence of a mutation on other mutation(s) and the genetic context in general. In the context of human disorders, epistasis complicates the spectrum of disease symptoms and has been proposed as a major contributor to variations in disease outcome. The nonadditive relationship between mutations and the lack of complete understanding of the underlying physiological effects limit our ability to predict phenotypic outcome. Here, we report positive epistasis between intragenic mutations in the cystic fibrosis transmembrane conductance regulator (CFTR)-the gene responsible for cystic fibrosis (CF) pathology. We identified a synonymous single-nucleotide polymorphism (sSNP) that is invariant for the CFTR amino acid sequence but inverts translation speed at the affected codon. This sSNP in
Identifiants
pubmed: 33468668
pii: 2010612118
doi: 10.1073/pnas.2010612118
pmc: PMC7848603
pii:
doi:
Substances chimiques
CFTR protein, human
0
Codon
0
RNA, Messenger
0
Cystic Fibrosis Transmembrane Conductance Regulator
126880-72-6
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
Subventions
Organisme : NHLBI NIH HHS
ID : K99 HL151965
Pays : United States
Organisme : NHLBI NIH HHS
ID : R00 HL151965
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL136414
Pays : United States
Déclaration de conflit d'intérêts
The authors declare no competing interest.
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