CONTOL OF GENE EXPRESSION Flashcards
TOPIC 8 (86 cards)
GENE MUTATION
change in base sequence of DNA
occurs during DNA replication
MUTANGENIC AGENTS
chemical or radiation that increases mutation rate
.Base analogs: can substitute for base eg. 5-bromouracil can substitute for Thymine, but pairs w/Guanine instead of Alanine
.Altering bases: eg. alkylating agents add an alkyl to Guanine so changing its structure so that it pairs w/Thymine instead of Cytosine
.Altering DNA structure: eg. Ultra Violet radiation can cause adjacent Thymines to pair
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
SUBSITUTION MUTATION
One base in DNA sequence is changed
no frameshift
only one codon changes
may have no impact due to degenerate genetic code
INVERTED MUTATION
section of bases detach from DNA sequence and re-join inverted
results in different amino acids being coded for in this region
DUPLICATION MUTATION
One base is duplicated at least once in sequence causes frameshift to right
TRANSLOCATION MUTATION
section of bases on one chromosome detaches and attaches to different chromosome
FRAMESHIFT
change in all the codons after point of mutation each base shifts left or right one position
IMPACT OF GENE MUTATIONS ON PROTEINS
- DNA base sequence
- mRNA codons
- amino acid sequence
- ionic/H/disulphide bonds
- tertiary structure
MUTATIONS HAVING NO EFFECT ON PROTEINS
Some mutations, such as substitutions, change only one triplet code in DNA-degenerate nature of genetic code this means that sequence of amino acids will not change
CHANGE IN AMINO ACID SEQUENCE COULD CAUSE
.May affect location of ionic/hydrogen/disulphide bond between R groups
.Change tertiary structure of protein
.May create nonfunctional protein
NON-FUNCTIONING PROTIEN
Protein w/different primary and tertiary structure- shape is changed it cannot carry out its function + prevent enzyme-substrate complexes from forming
STEM CELLS
undifferentiated cells that can continually divide and become specialised
TOTIPOTENT STEM CELLS
divide and produce any type of body cell
.Only present for limited time in first few divisions of mammalian embryo
.During development not all stem cell genes are expressed, so some are not transcribed or translated to proteins
.genes that are expressed lead to synthesis of proteins that determine cell structure and function-cell is now specialised and this is irreversible
PLURIPOTENT STEM CELL
Embryonic stem cells that can divide in unlimited numbers and develop to most of body’s cell types
can be used to treat human disorders, as they can differentiate to any body cell- get from 4-5 day old embryos that are spare from being used in IVF In vitro fertilisation treatment and rest of embryo is destroyed leads to ethical concerns regarding their use in research and treatment
MULTI-POTENT STEM CELL
Adult cells that can develop into limited number of cell types
have an operation to obtain bone marrow cells from donor that can develop to red blood cells or white blood cells
Can be used to replace variety of different cell types but it is limited-Requires donation of stem cells from genetically compatible donor – reduces chance of rejection, but rejection is still possible
Reliance on donors is an issue due to lack of suitable donors
Has less ethical issues as donors are usually consenting adults
UNIPOTENT STEM CELLS
Can only differentiate to one type of cell
E.g. Cardiomyocytes are highly specialised heart muscle cells- are very specialised, they cannot regenerate by mitosis themselves- formed from one type of unipotent stem cell that divides and differentiates to cardiomyocyte
IPS BEING USED IN RESEARCH + MEDICINE
.Take somatic adult specialised cells, and infect them w/modified virus w/genes coding for transcription factors so that cells become pluripotent
.Transcription factors attach to promoter region of DNA and stimulate RNA polymerase to stimulate transcription
.cells divide and differentiate to desired cells
IPS BEING TRANPLANTED
cells modified come from patient themselves- reduces chance of rejection when new cells are transplanted back in
EVALUATING USE OF STEM CELLS IN TREATING HUMAN DISORDER
Benefits: All stem cell treatments in medicine provide long term treatment as they continuously divide
Stem cells could be used to grow organs to save lives, or replace eye tissue
Bone marrow stem cells are already being used to treat leukaemia and have been used to cure HIV
Issues: Obtaining embryonic stem cells involves destruction of an embryo
Better to use adult stem cells e.g. iPS which could possibly be made from patient’s own cells-cells continuously dividing increases risk of uncontrollable cell division and production of tumours
nonfunctioning cells must be destroyed e.g. by chemotherapy treatment, before new functioning stem cells are injected – this can be painful and increase chance of infection
GENE EXPRESSION
ability of gene to be transcribed to mRNA and translated to polypeptide
PROMOTOR
section of DNA before gene where RNA Polymerase binds
TRANSCRIPTION FACTORS
proteins which bind to promotor region on DNA they move from cytoplasm to nucleus and stimulate RNA polymerase to produce mRNA + Inhibit binding of RNA polymerase preventing production of mRNA