Flashcards
Genetics and Evolution VII
Flashcards do conjunto (21)
- 1What are the 3 causes of large insertion?Transposon mobilisation
Virus insertion
Retroposition - 2How does transposon mobilisation cause large insertions?Excision via transposases, autonomously encoded by their own DNA, and insertion into various regions of the genome.
- 3What is retroposition?RNA transcript -> DNA -> Integration into genome
- 4What are the causes of large deletions?Transposon mobilisation
Incorrect repair of ds DNA break - 5How do transposon mobilisations cause deletions?As they can take chunks of non-transposon DNA with them when they jump.
- 6What are the list of bigger changes? (5)Translocation (1)
Reciprocal translocations (2)
Inversion (3)
Duplication (4)
Chromosome fusion/fission (5) - 7What is translocation?Movement of a region of genome
- 8What is a reciprocal translocation?Swap 2 regions of genome
- 9What is inversion?Excision, flip, paste back.
- 10What is duplication?Excision, replicate, stick both back in.
- 11What is chromosome fusion/fission?Fuse 2/split 1 into 2.
- 12Spit me some bs about Ph Chromsomet(9;22)(q34;p11.2)
Repressor domain and protein kinase domain
PK is fused to bcr domain instead of abl, so kinase isn't repressed. - 13What 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 - 14Dominant LOF allelesOf a haplo-insufficient locus (HPE4)
One copy of the gene isn't enough to produce the WT phenotype - 15Dominant GOF alleleMutation changes specificity of enyme so it binds a different substrate, ergo dif. phenotype
Or mutation changes gene expression patterns, expressed in different cells. - 16Dominant negative (antimorphic) mutationMutant protein competes / counteracts WT protein e.g. binds irreversibly to substrate so WT can't bind.
- 17Recessive allele mutationsLOF of a 'normal' locus
Complete LOF (null allele)
Partial LOF - still produces protein, comprised. - 18When does a change in DNA become a mutation?When the change is inheritable.
Cells that aren't diving may leave damage unrepaired. - 19Name the 5 mechanisms of DNA repairDirect reversal
Mismatch repair
BER
NER
Homologous recombination - 20What can cause inaccurate repair?Translesion DNA synthesis
Non-homologous end joining - 21What are the mutation rates of humans/E.coli?1.2x10^-8
8.9x10^-11
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- O usuário eliminou as informações de disciplina FlashCards sobre Genetics and Evolution VII, criado por Usuário eliminado em 05-03-2018.
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- Usuário eliminado · mar 2018
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- Criado por J yadonknow · 5 mar 2018
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