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Genetics > Exam 2 > Flashcards

Exam 2 Flashcards

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Biology 101 flashcards
1
Q

Haplosufficient

A

Promote a wild type function or full expression in only one copy

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2
Q

Dominant negative

A

As a heterozygote wipes out a gene function by a spoiler effect on the protein

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3
Q

Incomplete or partial dominance

A

Intermediate phenotype

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4
Q

Temperature Sensitive mutants

A

Allele can be expressed as both permissive and restrictive temperature, protein only encoded if permissive

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5
Q

Pleiotropic

A

When a single gene has multiple effects

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6
Q

Archibald Garrod

A

Discovered that many diseases show defects in metabolism

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7
Q

Beadle and Tatum

A

Used Neurospora to discover that one gene will lead to the production of one protein (one-gene-one-polypeptide)

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8
Q

Inferring Gene Interactions

A

1) Obtain and select a mutant, confirm single gene inheritance and asses phenotype
2) Test mutant for allelism and confirm the total number of genes involved
3) Combine the mutants into pairs to form double mutants to see if the genes interact

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9
Q

Complementation Test

A

Distinguishes if two mutant alleles are on the same gene/enzyme

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10
Q

Recessive Epistasis

A

A mutant allele of one gene masks the expression of the mutant allele of another gene and expresses its own phenotype

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11
Q

Suppressor Screens

A

Mutate the mutant and look for WT phenotype, looks for a return to an original state

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12
Q

Penetrance

A

Percentage of individuals with a given allele who shows the phenotype

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13
Q

Expressivity

A

Degree to which an allele is expressed, the intensity of the phenotype

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14
Q

Fredrick Griffith

A

1928, worked with pneumonia in mice to assume there had to be some biological matter transferring

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15
Q

Oswald Avery

A

1944, continued Griffith’s experiment with mice and found evidence of DNA

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16
Q

Hershey-Chase

A

1952, confirmed evidence of DNA by using phage and T2 virus

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17
Q

Key Properties of DNA

A

1) Makes copies of itself
2) Encodes information
3) Is able to mutate

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18
Q

Structure of DNA

A

Phosphate, deoxyribose, and the four nitrogenous bases

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19
Q

Purines

A

Adenine and Guanine

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20
Q

Pyrimidines

A

Cytosine and Thymine

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21
Q

Chargaff’s Rules

A

Amount of A = T and amount of C = G

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22
Q

Double Helix

A

Discovered by Watson and Crick with the help of x-ray differentiation images done by Rosalind Franklin and Maurice Wilkins

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23
Q

Semi-Conservative Replication

A

Some parental and some new DNA

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24
Q

Conservative Replication

A

Parental is used as a template

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25
Q

Dispersive Replication

A

Two copies of two different mixtures of parental DNA and the new strand

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26
Q

Meselso-Stahl

A

Confirmed semi-conservative replication in 1958 using E.Coli

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27
Q

Arthur Kornberg

A

Discovered DNA polymerase I in 1955 using E.Coli

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28
Q

DNA Polymerase I

A

Grows the DNA from 5’ to 3’ and removes mismatched bases from both ends (exonuclease) and removes RNA primers and fills gaps on lagging strand

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29
Q

DNA Polymerase III

A

Acts as a replication fork and elongates the RNA primers with new DNA

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30
Q

Lagging Strand

A

When synthesized it fragments the new DNA. Need RNA primase, DNA pol III & pol I, and ligase

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31
Q

Ligase

A

Connects the adjacent Okazaki fragments on a lagging strand

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32
Q

Replisome

A

Coordinates the activities of the replication fork, has helicases and topoisomerases. Copies the parental strands and disassembles/reassembles the nucleosomes

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33
Q

Beta Clamp

A

On the replisome, where is encircles the DNA like a donut and keeps pol II attached to the DNA molecue

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34
Q

Chromatin

A

Makes up chromosomes.

Basic unit is the nucleosome, which is DNA wrapped around histone proteins

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35
Q

Telomeres

A

Two ends of the linear DNA molecules that form caps. Tends to be shortened during the replication process, so non-coding repeats are added to the end

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36
Q

Telomerase

A

Adds the short non-coding repeats to the 3’ ends of the DNA molecules, plus it carries a small RNA molecules that acts a template for the synthesis of the telomeric unit

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37
Q

Exons

A

Encode proteins

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38
Q

Introns

A

Non-coding sequence that separates exons

39
Q

Spliceosome

A

Removes introns and joins the exons together

40
Q

Properties of RNA

A

1) usually single stranded
2) has a ribosome sugar in its nucleotides
3) uses uracil instead of thymine

41
Q

mRNA

A

Messenger RNA, template for protein synthesis

42
Q

tRNA

A

Transfer RNA, brings amino acids to the site of protein synthesis and has an anticodon. Is the adapter between amino acids and RNA template

43
Q

rRNA

A

Ribosomal RNA, site of protein synthesis

44
Q

snRNA

A

Small Nuclear RNA, spliceosome, removes introns

45
Q

miRNA

A

MicroRNA, regulates gene expression

46
Q

siRNA

A

Small Interfering RNAs, protects the integrity of the genome and against pathogens

47
Q

Transcription Initiation

A

RNA polymerase binds to a specific promoter

48
Q

Transcription Elongation

A

RNA polymerase unwinds the DNA and creates a transcription bubble, where bases are paired

49
Q

Transcription Termination

A

1) Rho factor recognizes the termination signals for RNA polymerase
2) Stop codon is reached in a hairpin loop

50
Q

Differences in Transcription

A

1) Eukaryotes have more genes, so the job is divided among three RNA polymerases
2) General Transcription Factors are needed
3) Prokaryotic DNA is naked and circular

51
Q

RNA Polymerases

A

I transcribes rRNA
II transcribes protein-encoding genes
III transcribes small functional RNAs

52
Q

Modifications of mRNA in Eukaryotes

A

1) Addition of a 5’ cap
2) Splicing of the introns
3) Polyadenylation and the poly tail

53
Q

Carboxyl Tail Domain

A

Initiation phase ends and the elongation phase begins after the tail has phosphorylated. Has a sequence of repeats that can serve as binding sites.

54
Q

Ends Required for Splicing

A

GU at the 5’ and AG at 3’ end

55
Q

Cech

A

Won the Nobel Prize in 1989 for discovering self-splicing introns

56
Q

RNA Interference

A

Co-Suppression = Transgene Silencing

57
Q

DICER

A

Binds to long dsRNAs and cleaves them into small dsRNA fragments, they are unwound so that RISC to chop up into mRNA

58
Q

Primary Structure

A

Where amino acids are located

59
Q

Secondary Structure

A

Alpha and Beta sheets, in 2D

60
Q

Tertiary Structure

A

3D structure

61
Q

Quaternary Structure

A

Groups of 3D structures and polypeptides

62
Q

Stop Codons

A

UGA, UAA, and UAG

63
Q

Niernberg

A

Made synthetic RNA of UUUUUU and inserted it into E.COli to determine that nucleotides were read in triplets

64
Q

tRNA Synthetase

A

Recognizes tRNA and corresponding amino acid

65
Q

Wobble

A

Allows one tRNA to recognize multiple codons

66
Q

Silent Mutation

A

Changes one amino acid into another for codon for the same amino acid

67
Q

Missense Mutation

A

Nucleotide-Pair substitution leads to a replacement of an amino acid

68
Q

Nonsense Mutation

A

Changes a codon into a stop codon

69
Q

Frameshift Mutation

A

Insertion or deletion of nucleotide pairs, disrupting the reading frame

70
Q

Ribosomes

A

Work with rRNA and mRNA to make protein. Has A, P, and E sites

71
Q

Small Subunit

A

Binds to the mRNA and the large subunit attaches

72
Q

Translation Initiation

A

Begins at AUG, methionine, the first aminoacyl tRNA is laced into the P site

73
Q

Shine-Dalgarno Sequence

A

Is needed for prokaryotes to start translation because it indicated what AUG to use

74
Q

Translation Elongation

A

mRNA acts as a blueprint to specify the delivery of the tRNAs, each amino acid is added to the polypeptide chain. Eventually tRNA is transferred to the A site

75
Q

Translation Termiantion

A

Happens once a stop codon is reached and the subunits will separate. A water molecule in the peptidyl transferase center leads to the release of the peptide chain.

76
Q

Posttranslational Folding

A

Happens inside the cell if the protein still needs to be in its correct 3D shape, with the help of chaperones

77
Q

Phosphorylation

A

Kinases attached phosphate groups to the hydroxyl group of the amino acids to change protein conformation after translation

78
Q

Ubiquitination

A

A protein is marked for degradation after translation

79
Q

Polymerase Chain Reaction

A

A specific gene or DNA region is isolated and amplified by DNA polymerase. Target DNA can be inserted into a plasma or use vectors

80
Q

PCR Process

A

1) Add primers
2) Heat to separate the strands, 95* C
3) Cool, the primers will anneal, 55-65* C
4) Heat to 72*C to allow for synthesis (Taq)

81
Q

Restriction Enzymes

A

Cut the DNA into fragments, creating sticky ends

82
Q

cDNA

A

Complementary DNA is a DNA version of mRNA made with the use of reverse transcriptase. Represent only the coding region of the genome

83
Q

Reverse Transcriptase

A

Catalyzes the synthesis and copies the cDNA

84
Q

Probes

A

Used to find and mark the desired clone. (homologous genes and protein products)

85
Q

Gel Electrophoresis

A

Separates the molecules of the mixture. Molecules head towards the positive charge.

86
Q

Southern Blotting

A

Imprints DNA molecules

87
Q

Northern Blotting

A

Imprints RNA molecules

88
Q

Western Blotthing

A

Imprints proteins

89
Q

Dideoxy Sequencing

A

Sanger Sequencing

1) Primers are created that hybridize to one location on the cloned segment
2) Added to a tube with DNA polymerase, dNTPs, and ddATP

If bound to ddATP the chain will stop growin

90
Q

Gene Gun

A

Blasts gold or tungsten coated DNA particles, where it then travels to the nucleus and inserts itself into a chromosome

91
Q

Agrobacterium

A

Has the TI plasmid, which causes tumors to grow that transfer some of its DNA into the host plant’s genome (T-DNA)

92
Q

Ectopic Insertions

A

Transgenes are inserted randomly into a genome using multicopy arrays

93
Q

Gene Targeting

A

Sequence is inserted into a location occupied by a homologous sequence in the genome, which is replaced

Genetics (2 decks)

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