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Genetic modulation of lncPSMB1 confers non-syndromic cleft lip with or without cleft palate susceptibility by promoting cell apoptosis
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Genetic modulation of lncPSMB1 confers non-syndromic cleft lip with or without cleft palate susceptibility by promoting cell apoptosis
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Journal Article
Genetic modulation of lncPSMB1 confers non-syndromic cleft lip with or without cleft palate susceptibility by promoting cell apoptosis
2025
Overview
The genetic roles of protein-encoding genes in nonsyndromic cleft lip with or without cleft palate (NSCL/P) susceptibility have been intensively studied, but many gaps remain including the emerging roles of long non-coding RNA. In this study, we found that NSCL/P risk-associated SNPs may have higher chances to modulate lncRNA genes than protein-coding genes. Through a multi-omics screen strategy, we identified a variant in
lncPSMB1
, associated with the risk of NSCL/P. We found that the rs4710839 risk C allele recruited more MYC, and increased the expression of
lncPSMB1
.
LncPSMB1
overexpression zebrafish models caused oedema around the heart and craniofacial defects, compared with control embryos. In vitro experiments, RNA sequencing and enrichment analysis showed that
lncPSMB1
activated the apoptosis pathway in human embryonic palatal mesenchyme cells. Furthermore, RNA pull-down and RIP (RNA immunoprecipitation) assays demonstrated that
lncPSMB1
directly bound to KRT1, reduced its protein stability, and promoted ubiquitination-mediated degradation. Meanwhile, knockdown of
KRT1
significantly rescued
lncPSMB1
overexpression phenotype by inducing decrease in cell apoptosis and increase in cell proliferation. These findings suggested that modulating lncRNA expression is an important mechanism for risk-associated SNPs in promoting NSCL/P development.
Modulation of long noncoding RNAs by risk SNPs underlying genetic predispositions to nonsyndromic cleft lip with or without cleft palate.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
