Nipped-B-like protein mRNA 3' untranslated region (NIPBL mRNA 3'UTR) (NIPBL mRNA 3'UTR)

The NIPBL mRNA 3' untranslated region (3'UTR) is a critical regulatory segment of the messenger RNA encoding the Nipped-B-like protein (NIPBL). NIPBL is a key factor required for the loading of the cohesin complex onto chromatin, which is essential for sister chromatid cohesion, DNA repair, and transcriptional regulation (UniProt Q6KC79). Mutations in one allele of the NIPBL gene lead to haploinsufficiency, which is the primary cause of Cornelia de Lange Syndrome (CdLS), a developmental disorder characterized by intellectual disability, growth retardation, and limb deformities (PubMed: 15122254). The 3'UTR of NIPBL contains multiple binding sites for microRNAs (miRNAs), such as the miR-17~92 cluster, which normally repress its expression. By targeting these specific sequences within the 3'UTR using antisense oligonucleotides (ASOs), researchers aim to block miRNA-mediated repression and stabilize the mRNA, thereby increasing the production of NIPBL protein from the remaining functional allele. This therapeutic approach seeks to restore NIPBL levels to a physiological range and rescue the cellular and developmental defects associated with CdLS (PubMed: 31511515).

Other names

NIPBL 3' untranslated regionDelangin mRNA 3'UTRCDLS1 mRNA 3'UTRNipped-B-like protein 3'UTR

Antisense-mediated blockade of microRNA binding sites to increase protein translation and mRNA stability