Mutations in linker-2 of KLF1 impair expression of membrane transporters and cytoskeletal proteins causing hemolysis.
Journal
Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555
Informations de publication
Date de publication:
15 Aug 2024
15 Aug 2024
Historique:
received:
13
03
2023
accepted:
09
07
2024
medline:
16
8
2024
pubmed:
16
8
2024
entrez:
15
8
2024
Statut:
epublish
Résumé
The SP/KLF family of transcription factors harbour three C-terminal C2H2 zinc fingers interspersed by two linkers which confers DNA-binding to a 9-10 bp motif. Mutations in KLF1, the founding member of the family, are common. Missense mutations in linker two result in a mild phenotype. However, when co-inherited with loss-of-function mutations, they result in severe non-spherocytic hemolytic anemia. We generate a mouse model of this disease by crossing Klf1
Identifiants
pubmed: 39147774
doi: 10.1038/s41467-024-50579-4
pii: 10.1038/s41467-024-50579-4
doi:
Substances chimiques
Kruppel-Like Transcription Factors
0
erythroid Kruppel-like factor
0
Cytoskeletal Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
7019Subventions
Organisme : Department of Health | National Health and Medical Research Council (NHMRC)
ID : APP1183556
Informations de copyright
© 2024. The Author(s).
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