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Genetics > Exam 1 > Flashcards

Exam 1 Flashcards

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1
Q

First part of the chemical composition and structure of DNA and RNA

A

Pentose Sugar (anchor)
DNA uses deoxyribose and RNA uses ribose

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2
Q

What is needed for inheritance?

A

Information storage, information copying (replication), Information retrieval (translation), and ability to vary

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3
Q

What makes a good genetic model?

A

Short generation time, large but manageable number of progeny, adaptability to laboratory evironment, ability to be housed and progagated inexpensively

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4
Q

Genome

A

Complete set of genetic instructions for any organism

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5
Q

Nucleosides

A

Base linked to sugar by 1’ ccarbon of pentose sugar

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6
Q

Third part of chemical structure of DNA and RNA

A

Phosphate group attached to the 5’ carbon
nucleotides

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7
Q

Phosphodiester bonds

A

Covalent bonds between a phosphate group of one nucleotide and the 3’ carbon of the next nucleotide’s sugar (a 5’-3’ linkage)
\

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8
Q

Second part of the chemical structure of DNA and RNA

A

Nitrogenous Base (data)
Purines (A&G) and Pyrimidines (C,T,&U)

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9
Q

All organisms use genetic systems that have a number of features in common

A

True

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10
Q

What does the 5’ end have attached to it

A

Phosphate group

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11
Q

What does the 3’ end have attached to it

A

Hydroxyl group (OH)

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12
Q

The chain has polarity

A

True

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13
Q

How did Watson and Crick discover the structure of DNA

A

Not by collecting new data but by using all available information about the chemistry of DNA

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14
Q

What did Watson and Crick discover about DNA

A

Double helix, antiparallel, and base complementarity

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15
Q

Where do hydrogen bonds form

A

between complementary base pairs

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16
Q

How many base pairs are between each helix turn

A

10 base pairs

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17
Q

Storage

A

Genetic material must contain all the information for the cell structure and function of an organism

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18
Q

Copying

A

Genetic materal must also replicate accurately so the progeny cells have the same genetic information as the parent cell

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19
Q

Genetic material varies

A

True

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20
Q

What does n equal

A

Number of chrosmosomes in a molecule

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21
Q

haploid (1c)

A

A single set of genes (or the number of unique DNA bases)
Humans have 1c = 3.2X10^9 unique base pairs

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22
Q

Diploid

A

Two copies of every base pair/gene (2c)

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23
Q

DNA is supercoiled for compaction

A

True

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24
Q

What does supercoiling rely on

A

Topoisomerases

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25
Q

Chromatin

A

DNA with protein “scaffold”

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26
Q

Histones

A

5 types, have a net positive charge that binds to a negatively charged DNA, sequences are very similar in all species

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27
Q

Nucleosomes

A

The fundamental repeating unit of chromatin

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28
Q

Karyotype

A

The laid out picture of chromosomes

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29
Q

Euchromatin

A

Strains lightly uncoiled except during cell division and holds active gene

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30
Q

Heterochromatin

A

Stains darkly, more condensed, and is genetically inactive

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31
Q

Constitutive heterochromatin

A

Having the power to establish or give organized existence to something, Involved in maintaining chromosomes structure, Includes centromeres and telomeres

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32
Q

Faculative heterochromatin

A

Capable of but not restricted to a particular function or mode of life and has the potential to becomes condensed

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33
Q

How are centromeres used

A

during cell division to make sure that each daughter cell gets a copy of each chromosome

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34
Q

Centromere

A

A constricted region of the chromosome where the kinetochores form and the spindle microtubules attach

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35
Q

Where are telomeres located

A

At the end of the chromosome

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36
Q

Telomerase

A

Adds new copies of the repeat so that the chromosome isn’t destroyed by the loss of material after each round of synthesis

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37
Q

Mitochondria

A

has circular genome and uniparental inherited usually

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38
Q

Replicative segregation can lead to what

A

Heteroplasmic and homoplasmic cells

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39
Q

How does DNA replication occur

A

A semiconservative mechanism

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40
Q

Conservative

A

One double helix is unchanged by the process, the other is completely new

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41
Q

Dispersive

A

Each strand is a mix of old and new DNA

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42
Q

Semi conservative

A

One strand of double helix is conserved, the other is new

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43
Q

Raw materials of DNA synthesis

A

Template, enzymes, raw materials

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44
Q

What does DNA polymerase do

A

Catalyzes the formation of phosphodiester bonds

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45
Q

Where does the 3’ OH group join

A

At the last base in the DNA chain to the incoming 5’ phosphate of a dNTP

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46
Q

What direction is replication

A

Always 5’-3’

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47
Q

5 key elements of each replication fork

A

Helicase to unwind the DNA, SSBP to protect ssDNA, Gyrase to remove strain ahead of fork, primase to synthesize RNA primer, DNA polymerase

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48
Q

Why does Gyrase ds break

A

To relieve torsional strain

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49
Q

What does Helicase break

A

H bonds between bases

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50
Q

What do SSB proteins do

A

They protect free DNA and prevent secondary structures

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51
Q

Key features of DNA replication in Eukaryotes

A

Is initiated by RNA primers, occurs in the 5’ to 3’ direction, semiconservative, origins of replication

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52
Q

Origins of replication

A

Initiated at the same time at many points along the chromosome

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53
Q

Packaging of newly replicated DNA

A

Histones must first disassemble to allow DNA synthesis, sythesis of new histones is coordinated with DNA synthesis, Then must reassemble on two new chromosomes

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54
Q

Main polymerases have what

A

3’ to >5’ exonuclease

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55
Q

G1 contains the checkpoint

A

True

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56
Q

What happens in the S cycle

A

The DNA untwists and replicates

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57
Q

Mitosis

A

Formation of two cells from one cell, requires successful replication of each chromosome, 5 phases, result is daughter cells each with complete copy of the genome

58
Q

5 stages of Mitosis

A

Interphase, Prophase, Metaphase, Anaphase, Telophase

59
Q

Prophase

A

Chromosome condense and two sister chromatids become detactable

60
Q

Metaphase

A

Chromosomes arranged on metaphase plate, centrosomes at opposite poles, and microtubules from centrosomes to kinetochore

61
Q

Chromosomes per cell equals

A

The number of functional centromeres

62
Q

Anaphase

A

Sister chromatids separate and chromosomes move toward opposite poles

63
Q

Telophase

A

Sister chromatids arrive at opposite poles (now called chromosomes), nuclear membranes form, and chromosomes relax and lengthen

64
Q

What happens during Prophase 1

A

Chromosomes cross over (recombination)

65
Q

Recombination

A

Produces new combinations of alleles

66
Q

There is independent assortment between chromosomes

A

true

67
Q

Stages of Meiosis 1

A

Prophase 1, metaphase 1, anaphase 1, telophase 1, cell division

68
Q

First step of making protein

A

Transfer of genetic information from DNA to mRNA

69
Q

messenger RNA (mRNA)

A

Instructions to make a protein
Each protein has a unique mRNA

70
Q

transfer RNA (tRNA)

A

Translates instructions into protein, the translator molecule, and has a stem/loop structure

71
Q

ribosomal RNA (rRNA)

A

Machine that builds a protein, makes the ribosome, and has a large and a small subunit

72
Q

Key components needed for transcription

A

DNA template, Raw materials (ribonucleotide triphosphates) needed to build a new RNA molecule, and the transcription apparatus, consisting of the proteins necessary for catalying the synthesis of RNA

73
Q

RNA Pol 1

A

transcribes ribosomal rRNA

74
Q

RNA Pol 2

A

Transcribes pre messenger mRNA

75
Q

RNA Pol 3

A

Transcribes transfer tRNA

76
Q

Chromatin needs to be remodeled in order to open up the DNA for transcription

A

True

77
Q

Promotor

A

Sequence that transcription machinery recognizes and binds

78
Q

Coding region

A

The sequence that is copied from DNA to RNA

79
Q

Terminator

A

Specific sequences that indicate transcription should stop generally is transcribed

80
Q

Core Promoter

A

required for any transcription, site where basal transcription machinery binds, TATA box (nearby regulation), transcription factors and regulatory factors can bind

81
Q

Regulatory Promoter

A

Upstream of core promoter, variety of consensus sequences, transcription factors and regulatory factors can bind here, can be mixed and matched combinations, directly or indirectly make contact with basal transcription machinery, affect the rate of transcription

82
Q

Enhancers

A

Distal locations can also enhance transcription

83
Q

Initiation

A

If the promoter and enhancers “say so” a protein coding gene is transcribed

84
Q

Enlongation

A

Keep adding nucleotides
TF and regulatory proteins dissociate and can be reused for another polymerase to bind and start another transcript

85
Q

Termination

A

For RNA Pol 2 there is no specific termination sequence

86
Q

Units of proteins

A

Units are the 20 AA joined by peptide bonds

87
Q

DNA, RNA, and proteins have directionality

A

True

88
Q

What does the amino end of a protein have

A

a free amino group (NH3+)

89
Q

What does the carboxyl end of a proten have

A

A free carboxl group (COO-)

90
Q

R group differs in each amino acid

A

True

91
Q

Primary

A

sequence of AA

92
Q

Secondary

A

Interactions between AA

93
Q

Tertiary

A

Structures after folding overall 3D shape

94
Q

Quaternary

A

> 1 polypeptides

95
Q

Domains

A

Group of AA that form a discrete functional unit

96
Q

Codon

A

A code that has 3 bases

97
Q

How is a code degenerate

A

due to being 3 bases there are 64 possible AA (4^3)

98
Q

Degenerate

A

More than one codon for each AA

99
Q

Wobble

A

Typically the 3rd base of the codon can vary

100
Q

Synonymous

A

Change in DNA seq does not change AA

101
Q

Non synonymous

A

change in DNA seq changes AA

102
Q

Nonsense

A

Change in DNA introdues a stop codon

103
Q

AUG

A

start codon/methionine

104
Q

Three stop codons

A

UAG, UAA, UGA

105
Q

Reading frame

A

a way of dividing the sequence of nucleotides in a nucleic acid

106
Q

How are codons nearly universal

A

Each codon specifies the same AA in almost all organisms

107
Q

4 phases of protein synthesis

A

tRNA charging: binding tRNA to AA
Initiation: start of translation
Elongation: Synthesis of polypeptide chain
Termination: Ending synthesis

108
Q

Aminoacyl tRNA synthetase

A

Enzyme that attaches an AA to a tRNA specific for a particular AA

109
Q

Initiation

A

Ribosome small subunit initiation factors, initatior tRNA form initation complex recognizing the 5’Cap, the initiation complex scans the mRNA unit it finds the start codon

110
Q

Elongation and Termination

A

Formation of peptide bond releases AA in P site from the tRNA, translocation of ribosome down the mRNA 5’ to 3’, translation stops when the ribosome encounters a stop codon, release factors bind to a site and promote cleavage of polypeptide

111
Q

Aminoacyl site

A

Where charged tRNA enter ribosome

112
Q

Peptidyl site

A

Where peptide bond is formed

113
Q

Mutation

A

Inherited change in genetic information, the descendants that inherit the change may be cells or organisms

114
Q

Somatic Mutations:

A

Happens during development, only effects the individual

115
Q

Germ line mutation

A

Happens in the gamete and gets passed on

116
Q

Base Substitutions

A

Alteration of a single nucleotide

117
Q

Transition

A

Substitiution of a purine for a purine

118
Q

Transversions

A

Substitution of a purine for pyrimidine

119
Q

Neutral

A

Missense mutaiton that changes one AA for another chemically similar AA

120
Q

Loss of Function

A

Results in complete or partial absence of a normally functioning protein

121
Q

Lethal

A

Result is so drastic that the organism cannot survive

122
Q

Indels

A

Insertion/deletion of one or more bases can cause frameshift

123
Q

Replicative

A

The wrong base gets incorporated during DNA replication

124
Q

Strand slippage

A

denaturation and displacement of the DNA strands, resulting in mispairing of the complementary bases.

125
Q

Depurination

A

Loss of a purine base from a nucleotide generally replaced w/ an A

126
Q

Deamination

A

Loss of an amino (NH2) group from a base spontaneous and chemically induced

127
Q

Mutagen

A

Any environmental agent that significantly increases the rate of mutation above the spontaneous mutation rate

128
Q

Environmental

A

Radiation UV light produces thymine dimers which block replication

129
Q

What do repair mechanisms use

A

A common 4 step pathway; detection, excision, polymerization, ligation

130
Q

Detection

A

The damaged section of teh DNA is recognized

131
Q

Excision

A

Endonucleases nick the sugar-phosphate backbone on one or both sides of the DNA damage, and one or more nucleotides are removed

132
Q

Polymerization

A

DNA polymerase adds nucleotides to the newly exposed 3’ OH group by using the other strand as a template and replacing damaged nucleotides

133
Q

Ligation

A

DNA ligase seals the nicks in the sugar phosphate backbone

134
Q

Mismatch Repair

A

Incorrectly paired bases are detected and corrected by mismatch repair enzymes

135
Q

Direct repair

A

Does not replace altered nucleotides, restores their original structures, thymine dimers

136
Q

Base Excision Repair

A

DNA repair that first excises modified bases and then replaces the entrie nulceotide, set of enzymes called DNA glycosylases recognizes and removes a specific type of modified base @ 1’ carbon, another enzyme recognizes the missing base and cuts phoshodiester backbone, another enzyme removes the sugar molecule, DNA polymerase adds the correct base to free 3’ OH, Ligase seals the nick

137
Q

Nucleotide Excision Repair

A

Removes bulky DNA lesions and other types of DNA damage

138
Q

Double strand breaks

A

Very bad, stalls replication, can cause deletions, duplications, inversions, translocations

139
Q

Homologous recombination

A

Using the identical or nearly identical genetic information contained in another DNA molecule usually a sister chromatid, same process as used in recombination

140
Q

Nonhomologous end joining

A

Uses proteins that recognize the broken ends of DNA bind to the ends and then join them together

141
Q

central dogma

A

DNA to RNA to protein

Genetics (6 decks)

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