Identification of
ATP2B4
CRISPR-cas9
SNP
calcium
enhancer
functional genomics
gene reporter
malaria
promoter
regulatory element
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
27 Apr 2022
27 Apr 2022
Historique:
received:
14
03
2022
revised:
15
04
2022
accepted:
22
04
2022
entrez:
14
5
2022
pubmed:
15
5
2022
medline:
18
5
2022
Statut:
epublish
Résumé
Genome-wide association studies for severe malaria (SM) have identified 30 genetic variants mostly located in non-coding regions. Here, we aimed to identify potential causal genetic variants located in these loci and demonstrate their functional activity. We systematically investigated the regulatory effect of the SNPs in linkage disequilibrium (LD) with the malaria-associated genetic variants. Annotating and prioritizing genetic variants led to the identification of a regulatory region containing five
Identifiants
pubmed: 35563239
pii: ijms23094849
doi: 10.3390/ijms23094849
pmc: PMC9101746
pii:
doi:
Substances chimiques
ATP2B4 protein, human
EC 3.6.1.8
Plasma Membrane Calcium-Transporting ATPases
EC 3.6.3.8
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Cheikh Anta Diop University
ID : African Higher Education Centers of Excellence project
Organisme : Institut Pasteur
ID : Grant to finance Alassane Thiam's stay at TAGC in Marseille
Organisme : Higher Education Commission
ID : Samia Nisar's PhD fellowship
Organisme : French ministry of research
ID : Florian Rosier's PhD fellowship
Organisme : Inserm
ID : Funding for research
Organisme : Aix-Marseille University
ID : Funding for research
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