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Genetics and Evolution VII

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Flashcards on Genetics and Evolution VII, created by J yadonknow on 05/03/2018.
J yadonknow
Flashcards by J yadonknow, updated more than 1 year ago
J yadonknow
Created by J yadonknow almost 7 years ago
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What are the 3 causes of large insertion? Transposon mobilisation Virus insertion Retroposition
Tranposon mobilisation MOA (2) Excision via transposases autonomously encoded by their own DNA Insertion into various regions of the genome.
What is retroposition? RNA transcript -> DNA -> Integration into genome
What are the causes of large deletions? Transposon mobilisation Incorrect repair of ds DNA break
How do transposon mobilisations cause deletions? As they can take chunks of non-transposon DNA with them when they jump.
What occur during incorrect ds DNA repair? (2) Sometimes isn't possible to use homologous chromosome as template for repair Just sticks broken ends back together
What are the list of bigger changes? (5) Translocation (1) Reciprocal translocations (2) Inversion (3) Duplication (4) Chromosome fusion/fission (5)
What is translocation? Movement of a region of genome
What is a reciprocal translocation? Swap 2 regions of genome
What is inversion? Excision, flip, paste back.
What is duplication? Excision, replicate, stick both back in.
What is chromosome fusion/fission? Fuse 2/split 1 into 2.
Spit me some bs about Ph Chromsome (3) t(9;22)(q34;p11.2) Abl repressor domain and protein kinase domain PK is fused to bcr domain instead of abl, so kinase isn't repressed.
What is gene function allocation due to duplication? One can specialise and the other does all the work They both split the function between the two of them
Dominant LOF alleles are of a haplo-insufficient locus e.g. HPE4
Dominant GOF allele mutation changes (3) Mutation changes specificity of enzyme so it binds a different substrate Mutation changes gene expression patterns Changes pheno.
Dominant negative (antimorphic) mutation (2) Mutant protein competes / counteracts WT protein e.g. binds irreversibly to substrate so WT can't bind.
Recessive allele mutations - degrees of mutation Complete LOF Partial LOF - still produces protein, comprised.
When does a change in DNA become a mutation? When the change is inheritable. Cells that aren't diving may leave damage unrepaired.
Name the 5 mechanisms of DNA repair Direct reversal Mismatch repair BER NER Homologous recombination
What can cause inaccurate repair? (2) Translesion DNA synthesis Non-homologous end joining
What are the mutation rates of humans/E.coli? 1.2x10^-8 8.9x10^-11
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