Module 6 Flashcards
What kinds of point mutation are there?
Base substitution
Frameshift insertion
Frameshift deletion
What do nonsense mutations do?
Turn a base sequence from coding for a functional amino acid into coding for a ‘stop’ amino acid
What do mis-sense mutations do?
Change order of base sequence…
- conservative: maybe ‘silent’
- non-conservative: probably damaging
What kind of chromosome mutations are there?
Deletion
Translocation
Inversion
How are genes regulated?
Transcriptional (switching on/off)
Post-transcriptional (mRNA modification)
Translational (stop and start translation)
Post-translational (protein modification)
What is chromatin?
The tightly wound DNA-histone complex that is formed when DNA is condensed
What is heterochromatin?
Tightly wound DNA visible in cell division
What is euchromatin ?
Loosely wound DNA visible in interphase, which lets RNA polymerase access the DNA
What does acylation and phosphorylation do to chromatin?
Makes DNA coil less-tightly, allowing extra genes to be transcribed
What does methylation do to chromatin?
Makes DNA coil more-tightly, allowing fewer genes to be transcribed
What is an operon?
A group of genes under the control of the same mechanism
How does the Lac-operon work?
When lactose is present, it binds to the repressor protein and moves it out of the way of the operator, allowing RNA polymerase to bind to the promoter and transcribe LacZ, LacY and LacA
How does pre-mRNA become mature mRNA?
A cap is added to 5’ end and a tail to the 3’ end (nucleotides) and splicing occurs - removing the introns (non-coding DNA), the molecule can also be modified before translation - to make a variety of different polypeptides
What are protein kinases?
Enzymes that catalyse the addition of phosphate groups to proteins, thus changing the structure and function. This is often how enzymes are activated
What are Homeobox genes?
A group of regulatory genes which all contain a homeobox - a highly conserved 180bp code which produces a protein (with a part called a homeodomain) which switches genes on and off
What are Hox genes?
A group of homeobox genes only in mammals, found in clusters
What kinds of body symmetry can homeobox genes regulate?
Radial - like jellyfish
Bilateral - like humans
(Asymmetric - like a sea sponge)
What is morphogenic apoptosis?
Programmed cell death, acting like a ‘sculptor’ to form body shapes. Apoptic bodies ‘bleb’ and are consumed by phagocytes
What can effect the expression of regulatory genes?
Temperature, light intensity, and the effects of drugs (like Thalidomide)
What is meant by Homozygous?
Two identical alleles for a genotype
What is meant by Heterozygous?
Two different alleles for a genotype
What is continuous variation?
Variation that can take on any value in a range, generally polygene controlled
What is discontinuous variation?
Variation that can only take a discrete set of values, generally controlled by one or two genes
What is codominance, and how is it denoted?
When two different alleles of a genotype are equally dominant, and it is conventionally shown with a superscript letter to show the phenotype variant