Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy

Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy

We identified two unstable variants in the third exon of α-globin genes: Hb Bernalda/Groene Hart (HBA1:c.358C>T), and Hb Caserta (HBA2:c.79G>A) in <i>cis</i> to Hb Sun Prairie (HBA2:c.391G>C), also named Hb Southern Italy. These mutations occurred in the H helix of the α-globin...

Full description

Bibliographic Details
Main Authors: Giovanna Cardiero, Gennaro Musollino, Maria Grazia Friscia, Rosario Testa, Lucrezia Virruso, Caterina Di Girgenti, Mercedes Caldora, Rosario Colella Bisogno, Carlo Gaudiano, Giuseppe Manco, Giuseppina Lacerra
Format: Article
Language:English
Published: MDPI AG 2020-07-01
Series:Genes
Subjects:
human α-hemoglobin
α-thalassemia
unstable α-Hb variants
molecular chaperone AHSP
molecular modeling
mRNA quality control
Online Access:https://www.mdpi.com/2073-4425/11/8/870

Internet

https://www.mdpi.com/2073-4425/11/8/870

Similar Items