Cellular Control Flashcards
Define mutation
A change in the sequence of bases in DNA
What is a point mutation?
A change in a single nucleotide base
What is a frameshift mutation?
The addition or deletion of a nucleotide moves/shifts the reading frame of the sequences of bases, altering every successive codon from the point of mutation
What are the 5 types of point mutation?
- Substitution
- Deletion
- Insertion
- Duplication
- Inversion
What is a silent mutation?
A mutation which results in the same protein being produced
Why can silent mutations occur?
The genetic code is degenerate, so the mutated codon may still code for the correct amino acid
What is a missense mutation?
When one or more amino acids are added to the primary structure of the protein
What effect can a missense mutation have on the phenotype of an organism?
The effect can be neutral, beneficial, or harmful
What is a nonsense mutation?
The result of frameshift mutations, a shorter unfinished protein is often produced
What kind of effect does a nonsense mutation have on phenotype?
A harmful effect
What is a chromosomal mutation?
A mutation leading to the addition or deletion of a portion of a chromosome
Why can a change in the sequence of nucleotides affect the function of a protein?
- 3 nucleotides code for an amino acid
- Change in nucleotides can change the amino acid coded for
- Different amino acids have different R groups
- Different R groups alter 3D shape of protein
- Different shape may affect the protein’s function
How can mutations have a beneficial effect?
A mutation causes a protein with a useful effect to be produced
How can mutations have a harmful effect?
The proteins coded for are no longer synthesised or non-functional proteins are synthesised
What are the 3 types of mutagens?
- Physical
- Chemical
- Biological
What is a mutagen?
Something which induces mutations in DNA
Give an example of a physical mutagen
Ionising radiation
Give an example of a biological mutagen
Some viruses
Give an example of a chemical mutagen
Deaminating agents
What are the 4 types of chromosomal mutation?
- Deletion
- Duplication
- Translocation
- Inversion
What happens in a translocation chromosomal mutation?
A section of one chromosome breaks off and joins another non-homologous chromosome
Give 2 examples of the harmful effects of point mutations
- Sickle cell anaemia
- Cystic Fibrosis
What is gene expression?
The process by which instructions in DNA are converted into a functional product
What is chromatin remodelling?
The control of whether or not a gene is contained within heterochromatin or euchromatin
What is heterochromatin?
The form of chromatin in which DNA is tightly wound around histones
What is the effect of heterochromatin on transcription?
RNA polymerase cannot reach the genes so transcription does not occur
What are the 3 types of transcriptional control in eukaryotes?
- Chromatin remodelling
- Histone modification
- Transcription factors
What transciptional control occurs in prokaryotes?
Operons
What is Euchromatin?
The form of chromatin in which DNA is loosely wound around histones
What is the effect of euchromatin on transcription?
The gene can be accessed by RNA polymerase so transcription can occur