genes and genomes Flashcards

1
Q

how is genomics possible?

A

next-generation sequencing

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2
Q

How is genomics possible

A

computational capacity

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3
Q

Definition of a gene

A

the DNA sequence required to synthesize a product (protein or RNA) important for the function of a cell

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4
Q

Three regions of a gene

A
  1. coding sequence
  2. transcribed, non-coding sequences
  3. Regulatory sequences
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5
Q

Methods for finding genes(2)

A
  1. look for DNA sequences that are usually found in or near genes
  2. look for molecules produced by genes( RNA, protein)
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6
Q

Steps in identifying gene products

A
  1. Isolate cytoplasmic RNA and make a copy DNA (cDNA) of this RNA using reverse transcriptase
  2. Sequence these cDNAs
  3. Compare the sequence of these cDNAs with the genome sequence of the organism
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7
Q

Using RNA to make cDNA cannot

A

show what the encoded gene product does

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8
Q

Genome size in viruses and prokaryotes, but not in eukaryotes

A

gene numbers correlate with genome size

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9
Q

Gene number variation

A

varies less than DNA content

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10
Q

Largest portion of the human genome

A

transposons and not actual coding sequences

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11
Q

Life of the retrovirus

A

viral RNA changes into DNA and inserts into the host genome

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12
Q

what do retroviruses evolve into when they become defective

A

retrotransposons

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13
Q

Determine function of new gene: Compare

A

compare sequence of the gene product to sequences of gene products with known functions

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14
Q

Comparing function of new gene example

A

CDK

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15
Q

Determine function of new gene: test tube

A

isolate its products and determine what process this product is able to perform in a test tube

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16
Q

Test tube function of new gene example

A

hemoglobin binding oxygen

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17
Q

Determine function of new gene: make a mutation

A

Make a mutation in the gene and see what happens

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18
Q

make a mutation function of new gene example

A

Tbx5 specifies forelimbs

19
Q

Determine function of new gene: over express

A

overexpress the gene and see the effect it has on the organism

20
Q

How do mutations arise

A

spontaneously

21
Q

What do spontaneous mutations over time create

A

evolution

22
Q

What is antibiotic-resistant cells considered?

A

mutations

23
Q

difference in the DNA called

A

polymorphism

24
Q

difference on just one nucleotide

A

single nucleotide polymorphism

25
Q

What is the effect of most mutations

A

does not actually affect the expression or activity of genes

26
Q

Each germline generation has more

A

mutations

27
Q

Error in replication

A

caused by mismatch mutations

28
Q

High energy x-rays can lead to

A

chromosome rearrangements

29
Q

transposons can jump into genes and

A

disrupt them

30
Q

When does misalignment happen?

A

during meiosis

31
Q

What can misalignment lead to?

A

large scale chromosomal alterations

32
Q

abnormal segregation of chromosomes(nondisjunction) can. lead to

A

abnormal chromosome numbers

33
Q

Trisomy 21

A

copy number variation

34
Q

Alleles

A

genes that have different DNA sequences

35
Q

What do mutations in the regulatory sequences effect?

A

rates, location, timing of transcription

36
Q

What do mutations in the coding sequences effect?

A

amount or activity of a gene product

37
Q

Silent mutation

A

does not change the amino acid produced

38
Q

nonsense mutation

A

STOP codon

39
Q

missense conservative

A

changes amino acid but not super different

40
Q

missense nonconservative

A

changes amino acid to a very different one

41
Q

Frameshift

A

insertions and deletions can cause these

42
Q

What happens when DNA polymerase fiinds an incorrect nucleotide?

A

exonuclease activity removes. the incorrect nucleotide and replaces it

43
Q

When can mutations in DNA be removed?

A

replication or repaired postreplication