Novel mechanism of Col10a1 nonsense-mediated mRNA decay


Autoria(s): Fang, Yiwen
Contribuinte(s)

Bateman, John

Lamandè, Shireen

Data(s)

01/02/2014

Identificador

http://hdl.handle.net/10536/DRO/DU:30067414

Idioma(s)

eng

Publicador

Deakin University, Faculty of Science, Engineering and Built Environment, School of Life and Environmental Sciences

Relação

http://dro.deakin.edu.au/eserv/DU:30067414/fang-licence-2014.pdf

http://dro.deakin.edu.au/eserv/DU:30067414/fang-novel-2014A.pdf

Direitos

The author

Tipo

Thesis

Resumo

Nonsense-mediated mRNA decay (NMD) is a conserved surveillance mechanism that selectively targets mRNA transcripts carrying premature termination codons (PTCs) for rapid degradation in all studied eukaryotes. Mutations that introduce PTCs account for approximately one-third of all inherited genetic disorders, highlighting the importance of NMD in the molecular pathology of many diseases.<br />The experimental findings presented in this thesis demonstrate that the mechanism of Col10a1 NMD is different to previously described NMD pathways and could represent a failsafe NMD mechanism used by genes that have similar gene structures to COL10A1, which would escape the canonical NMD pathway. <br />

Palavras-Chave #Nonsense-mediated mRNA decay (NMD) #DNA repair