General
This disease is caused by mutations in the CFTR gene and is categorised by thick mucus in the lungs
What is cystic fibrosis
The +5 position of the splice donor site lies in this noncoding region of DNA.
What is an intron
This specific type of CRISPR editing strategy is designed to change an A-T pair to a G-C pair without cutting the DNA
What is Adenine Base Editing ( ABE )
The main organs affected by CFTR mutations include these two systems
What are the respiratory and digestive systems.
The removal of introns and joining of exons in pre-mRNA is known as this process.
What is RNA splicing
By using this gene editing strategy, researchers approximated this percentage of splicing correctness
What is 60%
The CFTR gene encodes for a protein that allows these charged ions to move across the membrane
What are chloride ions
A shortened, nonfunctional protein often caused by a premature stop codon.
What is a truncated protein.
The researchers used this cell type to express CFTR minigenes ( and to test ABE correction )
What are HEK293 cells
The type of mutation studied (2789+5G>A) disrupts this part of the gene.
What is the splice donor site
This mutation happens to be in the splice donor site after the 16th exon
Hint: The +5 refers to the position in the splice donor site that is mutated
what is 2789+5G>A
Researchers in this paper used this analytical method separate DNA based on the base pair length
What is gel electrophoresis.
The corrected mRNA allows translation of this specific CFTR region that was missing in the mutant.
What is exon 16
This laboratory method uses reverse transcription followed by PCR amplification to study RNA expression to determine the effectiveness of splicing correction in the CFTR.
What is RT-PCR
In our experiment one, the +5 lanes as part of researchers analysis represented this.
What is ABE editing with correct sgRNA