Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis.
Animals
Bacterial Outer Membrane Proteins
/ immunology
Disease Resistance
/ genetics
Familial Mediterranean Fever
/ genetics
Haplotypes
Humans
Inflammasomes
/ immunology
Mice
Mice, Inbred C57BL
Mutation
Plague
/ immunology
Pyrin
/ genetics
Selection, Genetic
/ genetics
Turkey
Virulence Factors
/ immunology
Yersinia pestis
Journal
Nature immunology
ISSN: 1529-2916
Titre abrégé: Nat Immunol
Pays: United States
ID NLM: 100941354
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
received:
18
04
2019
accepted:
07
05
2020
pubmed:
1
7
2020
medline:
5
11
2020
entrez:
1
7
2020
Statut:
ppublish
Résumé
Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by homozygous or compound heterozygous gain-of-function mutations in MEFV, which encodes pyrin, an inflammasome protein. Heterozygous carrier frequencies for multiple MEFV mutations are high in several Mediterranean populations, suggesting that they confer selective advantage. Among 2,313 Turkish people, we found extended haplotype homozygosity flanking FMF-associated mutations, indicating evolutionarily recent positive selection of FMF-associated mutations. Two pathogenic pyrin variants independently arose >1,800 years ago. Mutant pyrin interacts less avidly with Yersinia pestis virulence factor YopM than with wild-type human pyrin, thereby attenuating YopM-induced interleukin (IL)-1β suppression. Relative to healthy controls, leukocytes from patients with FMF harboring homozygous or compound heterozygous mutations and from asymptomatic heterozygous carriers released heightened IL-1β specifically in response to Y. pestis. Y. pestis-infected Mefv
Identifiants
pubmed: 32601469
doi: 10.1038/s41590-020-0705-6
pii: 10.1038/s41590-020-0705-6
pmc: PMC7381377
mid: NIHMS1592413
doi:
Substances chimiques
Bacterial Outer Membrane Proteins
0
Inflammasomes
0
MEFV protein, human
0
Pyrin
0
Virulence Factors
0
yopM protein, Yersinia
124893-29-4
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
857-867Subventions
Organisme : NIAID NIH HHS
ID : R01 AI099222
Pays : United States
Organisme : NHLBI NIH HHS
ID : T32 HL134598
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIA HG200372
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIA HG200374
Pays : United States
Commentaires et corrections
Type : CommentIn
Type : CommentIn
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