The importance of mRNA structure in determining the pathogenicity of synonymous and non-synonymous mutations in haemophilia.

ABSTRACT:

Introduction

Mutational analysis is commonly used to support the diagnosis and management of haemophilia. This has allowed for the generation of large mutation databases which provide unparalleled insight into genotype-phenotype relationships. Haemophilia is associated with inversions, deletions, insertions, nonsense and missense mutations. Both synonymous and non-synonymous mutations influence the base pairing of messenger RNA (mRNA), which can alter mRNA structure, cellular half-life and ribosome processivity/elongation. However, the role of mRNA structure in determining the pathogenicity of point mutations in haemophilia has not been evaluated.

Aim

To evaluate mRNA thermodynamic stability and associated RNA prediction software as a means to distinguish between neutral and

SUBMITTER: Hamasaki-Katagiri N 

PROVIDER: S-EPMC5226872 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature