Session 3: Cell signaling in development and disease

What are the most severe mutations causing Cystic Fibrosis?

• Class I mutations of CFTR including premature termination codons

• Class I mutations of CFTR leading to gating defects

• CFTR F508del mutations that remove a single aminoacid from the protein

• Mutations that reduce CFTR protein quantity

In RNA editing:

• one nucleotide of DNA is modified during RNA translation

• nucleotides are inserted or deleted

• transcripts with a sequence different from that of the genome template are formed

• gene products are changed by modyifing the interactions between RNA and ribosomes

What is the most widespread form of RNA editing in humans?

• the conversion of a coding triplet to a nonsense one

• the cut of dsRNA induced by Cas13

• the deamination of adenosine into inosine catalised by ADAR proteins

• the addition of a poly-A tail to the 3' end of the RNA molecule

A sequence in the CRISPR array that corresponds to a previously encountered phage is called

• Cas1

• PAM sequence

• Spacer

• Leader sequence

Integration of a new piece of DNA into the CRISPR array is called

• Cas1/Cas2 complex

• Adaptation

• Interference

• tracrRNA

CRISPR interference means

• Assembly of the RNA-protein complex

• Specific cleavage of the invading target DNA 

• Updating the spacer sequences

• Phage infection

IKNM stands for

• interkinetic nuclear migration

• Immuno-Kappa Neuronal Migration

• Inter kinase N amino

• Inbred Knock iN Mouse

The scaffolding protein Wdr47 ...

• facilitates protein protein interactions

• closes the neural tube

• lies between the cerebral hemispheres

• has enzymatic-catalytic domains

the formation of the corpus callosum ...

• is post natal

• requires a good sense of humour

• requires Wdr47

• kinks the right hemisphere to the internal capsule