Genomes Flashcards

1
Q

forward genetics

A
  • exploratory approach to study function of genes
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2
Q

forward genetics steps (4)

A
  1. unknown genes are randomly mutated
  2. screen for mutant phenotypes related to function
  3. clone these genes
  4. study function
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3
Q

reverse genetics

A
  • manipulative approach to study function of genes
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4
Q

reverse genetics steps

A
  1. obtain known genes (specific sequences)
  2. alter these genes’ expression, sequence, etc to produce mutant phenotypes
  3. study function
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5
Q

complementation (2)

A
  • tool for genetic analysis

- two approaches: crossing 2 mutants with the same phenotype OR restoring WT phenotype

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6
Q

complementation approach 1 (3)

A
  • cross 2 mutants with the same mutant phenotype together
  • if there is no change in phenotype to the offspring, the mutant mutations are in the same gene
  • if WT phenotype is restored, the mutant mutations are in 2 separate genes and COMPLEMENTATION occurs
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7
Q

complementation approach 2 (2)

A
  • attempt to restore the WT phenotype by transforming a mutant with the cloned gene of interest
  • if WT phenotype restored, the cloned gene complements the mutation
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8
Q

Cdk/cyclin

A

regulates events in mitosis

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9
Q

why are temperature sensitive alleles beneficial for experiments (2)

A
  • mutant will still have function at low temperature to survive, but can still study loss of function at higher temperature
  • does not kill organism and lets the grow and be maintained to study mutation
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10
Q

discovery of human cdk gene (3)

A
  1. a temperature sensitive allele of yeast cdk gene that lives at lower temperatures but dies at 36ºC
  2. transform yeast mutant with human cDNA library in a yeast CEN vector where each human gene is expressed from a yeast promoter; library represents thousands of human transcripts
  3. select clones thats are able to survive at 36ºC; these cloned have human cDNA that can rescue the death phenotype (complementation)
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11
Q

why were complementation experiments ground-breaking? (3)

A
  1. revealed unity of life: basic functions of cell biology is shared by all organisms
  2. made clear that studying simpler model systems/organisms can offer great understanding of universal biological processes
  3. glimpse of what we might learn if we had the sequence of whole genomes of many different organisms: can analyze genes to make predictions before we conduct molecular biology experiments
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12
Q

key lesson about model organisms (2)

A
  • do not simply offer us analogs (different proteins/genes with same function) of various biological processes
  • they offer us homologs (similar due to shared ancestry) for many biological processes
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13
Q

genomics (3)

A
  • study of whole genomes
  • involves the development and application of more effective mapping, sequencing, and computational tools
  • next generation sequencing made it much cheaper
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14
Q

functions of genomics (3)

A
  • predict existence and functions of previously undefined genes
  • verify predictions using molecular techniques
  • eg. sequencing human genome reveals the blueprint for our form and function
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15
Q

the human genome project (4)

  • type of science
  • duration and cost
  • delegation of costs
  • when did it finish
A
  • discovery science: identification of all elements in a biological system
  • 1990: estimated to take 15 years and $3 billion
  • 3-5% of budget committed to studying ethical, legal, and social implications of human genome mapping
  • finished in 2006
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16
Q

Encode

A
  • project to identify all functional elements in human and mouse genomes
17
Q

modEncode

A
  • project to identify all functional elements in C. elegans and D. melanogaster genomes
18
Q

cost if sequencing vs cost of interpretation

A
  • as cost of sequencing decreases, the cost of interpretation is going to go up
19
Q

interpreting DNA (2)

A
  • determining the meaning of DNA sequences

- highly context dependent: coding region, regulatory region, sequence between 2 genes, etc

20
Q

what are some applications of genomics (3)

A
  • preventative treatment if predisposition to certain disease
  • precision medicine
  • for curiosity (ancestry)
21
Q

what are some social and ethical concerns of genomic research (4)

A
  • which population are represented in the human genome sequence and who decides which population is the normal reference group
  • who owns genetic data and who benefits
  • who decides what questions get asked or what diseases get studied
  • what impact does this have when genomic studied are carried out
22
Q

how do we address the social and ethical concerns of genomic research

A
  • expand knowledge of other races’ genomics, not just European genomics