control of gene expression Flashcards
gene mutation
change in base sequence of DNA
- occurs during DNA replication
- includes addition, deletion, substitution, inversion, duplication and translocation of bases
mutagenic agents
chemical or radiation that
increases mutation rate
addition mutation
One extra base is added to the DNA sequence
causes all subsequent codons to be altered (frameshift)
deletion mutation
One base is deleted in the DNA sequence.
causes all subsequent codons to be altered (frameshift)
translocation of bases mutation
A section of bases on one chromosome detaches and attaches to a different chromosome
substitution mutation
- One base in the DNA sequence is changed
- no frameshift
- only one codon changes
- may have no impact due to degenerate genetic code
frameshift
A change in all the codons after the point of mutation
each base shifts left or right one position
non-functioning protein
a protein with a different primary and tertiary structure therefore the shape is changed
- it cannot carry out its function
duplication mutation
One base is duplicated at least once in the sequence
- causes a frameshift to the right
inversion mutation
A section of bases detach from the DNA sequence and re-join inverted
- results in different amino acids being coded for in this region
benign tumour
- non-cancerous tumour
- grows large but at a slow rate
- produce adhesive and are surrounded by a capsule so they cannot spread
tumour
a mass of cells as a result of uncontrolled cell division
- can be benign or malignant
malignant tumour
- cancerous tumour
- grows rapidly
- can become unspecialised can metastasise
- grow projections
- develop own blood supply
cancer
Malignant tumours that form due to uncontrolled cell division
metastasis
cancer cells breaking off from the tumour
- spreading to form secondary tumours in different tissues or organs
oncogene
- a mutated version of a proto- oncogene
- results in constant initiation of DNA replication and mitotic cell division
- causes tumour formation
How can oestrogen increase the risk of breast cancer?
- Oestrogen is a steroid hormone it binds to a receptor site on a transcriptional factor
- causing a change in shape
- so it can bind to the DNA to
- initiate transcription
- can result in uncontrolled cell division
tumour suppressor genes
genes that produce proteins to slow down cell division and cause cell death if DNA copying errors are detected
methylation of DNA
- inhibits transcription
- methyl groups attach to the cytosine base on DNA
- prevents transcriptional factors from binding
- condenses the DNA-histone complex
epigenetics
- the heritable change in gene function without changing the DNA base sequence
- caused by changes in the environment
- can inhibit transcription
hypermethylation
- an increased number of methyl groups attached to a gene - results in the gene being deactivated
- results in cancer if happens to a tumour suppressor gene
Stem cell
undifferentiated cells that can continually divide and become specialised
Pluripotent stem cell
can differentiate into almost any body cell
occur in embryos
Multipotent stem cell
can differentiate into a limited number of cells
found in mature mammals e.g in bone marrow
Totipotent stem cell
can differentiate into any body cell
occur for a limited time in early mammalian embryos
Unipotent stem cell
can differentiate into one type of cell
found in mature mammals
Induced pluripotent
stem cell
produced from adult somatic cells
- using protein transcriptional factors
- overcomes ethical issues of using embryonic stem cells
Transcriptional factor
proteins that can bind to different base sequences on DNA
- initiate transcription of genes