Mutations in disease and Cancer full Flashcards
What are the non-coding RNA’s?
Small nuclear RNA (snRNA : Reglulate pre-mRNA splicing
Small nucleolar RNA (snoRNA): Regulating RNA biogenesis
Ribonuclease P (RNase P) : A Ribozyme (enzyme) active digests pre tRNA to mature tRNA
RNase MRP : A Ribozyme (enzyme) rRNA processing, mDNA replication
Telomerase RNA component (TERC): Adds telomere ends (in conjunction with a protein)
Long noncoding RNA (long ncRNA): Gene expression regulation
MicroRNA (miRNA) : Regulation of gene expression by mRNA degradation
Vault RNAs (vRNA) : contained inside Vaults (large protein structures!)Drug metabolism
What are the steps for transcription?
The transcription factors bind to the promoter and TATA Box
RNA polymerase 2 binds to the transcription factor
RNA polymerase 2 reads a long the exons and introns, making a copy
introns are spliced out
Exons are then formed together before undergoing translation
Define mutation
- A permanentchange in DNA sequence.
- Results in a functional change in a gene product
- The gene product is usually a protein.
- To be effective, mutations must alter protein encoding or control regions.
- SOME gene products are non-coding RNAs, mutations can also affect these.
- Genes can be mutated by many different mechanisms, ranging from single base substitution to a large-scale chromosomal disruption.
The effect of a mutagenic hit to the DNA on a cell can lead too?
DNA repair systems detect and repair the damage to that cell: the mutation is not passed on to daughter cells
The cell cannot function and dies: again, the mutation is not passed on
And hopefully not:
The mutation is not detected (or can’t be repaired by the cell), the cell replicates, and the mutation is passed on to daughter cells
Define Missense mutation?
Replaces one amino acid with another
Define Non-frameshift insertions or deletions
Insertion of deletion of 3 bases or bases in multiples of 3 only affect the area of the protein codded for by that region
