MiR-128 and miR-125 regulate expression of coagulation Factor IX gene with nonsense mutation by repressing nonsense-mediated mRNA decay - 02/05/16
, Linhua Yang a, ⁎ Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
| pages | 7 |
| Iconographies | 4 |
| Vidéos | 0 |
| Autres | 0 |
Abstract |
Hemophilia could be caused by a nonsense mutation of the Factor IX gene, leading to a deficiency of Factor IX (F9). The nonsense mutation frequency of F9 is more than 10% according to the database. Nonsense-mediated mRNA decay (NMD) is a defined cellular response that can potentially prevent the production of such deleterious C-terminal truncated proteins from aberrant mRNA. Here, we constructed a mini-gene of Factor IX (Mini-hF9) and some nonsense mutants and characterized the mini-gene splicing pattern. We discovered that NMD regulated mini-hF9 expression in two nonsense mutants: E7a (nt 34 G>T in exon 7) and E7b (nt 52 G>T in exon 7), but not in another nonsense mutants: E7c (nt 85 G>T in exon 7) and E8 (nt 42 C>T in exon 8). In addition, mini-hF9 transcripts were accumulated after transfection with miR-128 or miR-125 mimics in E7a and E7b. Our results suggest that PTC (premature termination codon) location is a key determination for triggering NMD; miR-128 and miR-125 could help to increase the nonsense-mutant F9 levels by repressing NMD.
Le texte complet de cet article est disponible en PDF.Keywords : MicroRNA, Hemophilia, Factor IX, Nonsense mutation, NMD
Plan
Vol 80
P. 331-337 - mai 2016 Retour au numéro
Article précédent
- Anticoagulant properties and cytotoxic effect against HCT116 human colon cell line of sulfated glycosaminoglycans isolated from the Norway lobster (Nephrops norvegicus) shell
- Nadhem Sayari, Rafik Balti, Mohamed Ben Mansour, Ikram Ben Amor, Imen Graiet, Jalel Gargouri, Ali Bougatef
- Betulinic acid inhibits cell proliferation and fibronectin accumulation in rat glomerular mesangial cells cultured under high glucose condition
- Chun-mei Liu, Xue-lin Qi, Ya-feng Yang, Xiu-de Zhang
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’achat d’article à l’unité est indisponible à l’heure actuelle.
Déjà abonné à cette revue ?