first half Flashcards

1
Q

What are the characteristics of eukaryotes

A
  • Genome larger and linear
  • much more complex
  • DNA in nucleus
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2
Q

What are the characteristics of prokaryotes

A
  • Genome small and circular
  • DNA in cytoplasm
  • No defined nucleus
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3
Q

What is the cell cycle? Characteristics? Stages?

A
  • 24hr cycle → most of time spent in interphase preparing for mitosis; only a few hrs spent in mitosis
  • G 1 phase → growth,prepare cells for cytokinesis and mitosis
  • s phase (synthesis)→DNA replication
  • g2 phase → preparation for mitosis
  • M phase (mitosis) →chromosomal separation and cytokinesis
  • interphase → time between mitosises
  • Go→ cells can exit the cell cycles enter a quiescent state
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4
Q

What is a diploid cell

A

A cell than has 2 complete sets of chromosomes → one from mother and one from father

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5
Q

What is a haploid

A

A cell with one complete set of chromosomes

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6
Q

What occurs during prophase (mitosis)

A
  • Chromosomes condense

- Centrosomes radiate micro-tubules and migrate to opposites

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7
Q

What are kinetochores

A

attach to the centromeres of the chromosomes and the microtubule spindles to split the sister chromatids

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8
Q

What occurs during metaphase (mitosis)

A

the chromosomes line up in the centre of the cell

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9
Q

What occurs during anaphase (mitosis)

A

The chromatids are separated and pulled to opposite poles by the microtubule spindles

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10
Q

What occurs during telophase (mitosis)

A
  • the nuclear envelope begins to reform

- the chromosomes decondense

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11
Q

What occurs during cytokinesis (mitosis)

A
  • a contractile ring constricts to separate the daughter cells
  • reforming of the nucleus
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12
Q

why is it important to regulate the cell cycle

A
  • uncontrolled and contact cell divisions is dangerous and can lead to cancer
  • controlled by proteins and enzymes that also appear and disappear in cycles
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13
Q

how do cyclins regulate the cell cycle

A
  • cyclins bind to and activate CDK (cyclin-dependant kinases)
  • cyclin-CDK complexes phosphorylate target proteins that promote cell division
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14
Q

which CDK helps at each stage

A
  • G1/S cyclin-CDK occurs in G1 phases and helps prepare for DNA replication
  • S cyclin-CDK occurs in S phase and helps initiate DNA synthesis
  • M cyclin-CDK occurs in M phase and helps prepare for mitosis
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15
Q

what are cell-cycle checkpoints

A

places where cells pause within the cell cycle is something is not correct before they progress to the next stage

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16
Q

where is the DNA replication checkpoint? what does it check for?

A
  • the end of G2

- checks for the presence of unreplicated DNA

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17
Q

Where is the DNA damage checkpoint? what does it check for?

A
  • before the cell enters S phase/end of G1

- checks for damaged DNA ( damaged DNA will cause mutated cells)

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18
Q

Where is the spindle assembly checkpoint? what does it check for?

A
  • beginning of mitosis

- checks for all chromosomes being attached to the spindle

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19
Q

what results from mitosis

A

2 diploid daughter cells that are identical

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20
Q

what results from meiosis

A

4 haploid daughter cells that are each genetically unique

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21
Q

what occurs during prophase I (meiosis)

A
  • chromosomes condense and undergo synapsis (gene-for-gene pairing)
  • chromosomes forms a bivalent, each chromosome consists of 2 sister chromatids
  • nuclear envelope begins to break down
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22
Q

what is cross over

A

when the chromatids of 2 non sister chromatids cross over and exchange genetic information with each other

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23
Q

what occurs during prometaphase I (meiosis)

A

the spindles attach to the kinetochores on the chromosomes

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24
Q

what occurs during metaphase I (meiosis)

A

the homologous Pairs line up in the centre of the cells

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25
Q

what occurs during anaphase I ( meiosis)

A

homologous chromosomes separate (sister chromatids do not)

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26
Q

what occurs during telophase I and cytokinesis

A

daughter cells form and prepare to move to prophase II

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27
Q

What is Meiosis II? what occurs that is different than mitosis?

A
  • the second half of the meiosis process, VERY similar to mitosis
  • the daughter cells produced only contain 1/2 the DNA
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28
Q

What is nondisjunction

A

The failure of a pair of chromosomes to separate during anaphase of cell division

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29
Q

What results from a disjunction

A

one daughter cell receives an extra copy of that chromosome and the other daughter cell receives no cope of the chromosome

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30
Q

What were the benefits of mendels experiments

A
  • The pea’s were tightly inbred
  • The structure promotes self-fertilization
  • The traits could be studies one at a time
  • peas grow rapidly, which allow him to complete an entire generation in a growing season
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31
Q

What is a gene

A

a inherited factor that helps determine a characteristic

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32
Q

What is an allele

A

one of 2+ alternate forms of a gene

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33
Q

What is a locus

A

A specific place on a chromosome occupied by an allele

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34
Q

What is a genotype

A

a set of alleles possessed by an individual organism

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35
Q

What is a homozygote

A

a individual organism possessing 2 of the same alleles at a locus

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36
Q

what is a heterozygote

A

an individual organism possessing 2 different alleles at a locus

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37
Q

what is a phenotype

A

the appearance or manifestation of a genotype

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38
Q

what is a monohybrid cross

A

crosses between 2 parents that differed in a single characteristic

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39
Q

what is the principle of segregation

A

each individual diploid organism possesses 2 alleles for any particuar characteristic

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40
Q

what is the concept of dominance

A

when 2 different alleles are present in a genotype, only one characteristic will appear in the phenotype

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41
Q

multiplicative rule

A

the probability that 2 events occur together is the product of their individual probabilities of occurrence

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42
Q

additive rule

A

the probability that a least one of multiple events occur is the sum of their individual probabilities

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43
Q

conditional probability

A

additional information that modifies the conditional probability

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44
Q

what is the binomial expansion

A

(p+q)^n
calculates the probability of the events occurring together.
p is the probability of one event
q is the probability of the other event
n is the number of times the event occurs

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45
Q

what is a test cross

A

one individual of unknown genotype is crossed with another individual with a homozygous recessive genotype
reveals the genotype of the first individual
when it is preformed, any recessive allele in the unknown genotype will be expressed in the progeny

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46
Q

What are dihybrid crosses

A

crossed varieties that differ in 2 characteristics

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47
Q

principle of independent assortment

A

alleles at different loci separate independently of one another
an extension of the principle of the segregation
applies to characteristics encoded by loci located on different chromosomes
the arrangement of different tetrads is random and all combinations are equally likely

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48
Q

what are the challenges of human genetics

A
  1. humans have a long generation time, about 20 years in humans
  2. controlled matings are not possible
  3. human family size is generally small
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49
Q

what is a pedigree

A

a pictorial representation of a family history, outlines the inheritance of one or more characteristics

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50
Q

analysis of a pedigree

A

mendelian ratios are impossible to discern in a single pedigree
certain patterns may exclude the possibility of a particular mode of inheritance

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51
Q

what are autosomal recessive traits

A
  • normally appear with equal frequency in men and women
  • appears only when a person inherits 2 alleles of a trait
  • is a trait is uncommon then most parents are heterozygous and unaffected
  • seems to skip generations
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52
Q

what is consanguinity

A

mating between relatives

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53
Q

what are autosomal dominant traits

A
  • appear in both sexes equally
  • both sexes are capable of transmitting the diseases equally
  • do not skip generations
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54
Q

what are X-linked recessive traits

A
  • have a distinctive pattern if inheritance
  • traits appear more frequently in males, males only need to inherit a single copy of the allele to display the trait
  • affected males are usually born from unaffected mothers
  • not passed from father to son
  • all daughters of affected males will be carriers
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55
Q

what is a obligate carriers

A
  • people with heterozygous genotypes can be definitively determined from the pedigree
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56
Q

what are X-linked dominant traits

A
  • appear in both males and females, appear more frequently in females
  • do not skip generations
  • affected men pass the trait to all their daughters and none of their sons
  • affected women pass the trait to about half their sones and half their daughters
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57
Q

what are Y-linked traits

A
  • easily recognized patterns of inheritance
  • only males are effected, its passed from father to son
  • if a male is affected than all male offspring will be affected
  • do not skip generations
  • neither dominant or recessive
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58
Q

what is the chromosome segregation in sex chromosomes

A

MALES; segregation of the X chromosome from the Y chromosome, resulting in half the sperm with X chromosome and half the sperm with Y chromosome
FEMALES; each egg contains a X chromosome

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59
Q

what is criss cross inheritance

A
  • X chromosome present in the male in once generation mush be transferred to the female in the next generation, which can then be transferred back to the male
  • X chromosomes alternate between the sexes in successive generations
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60
Q

what is a nucleotide

A
  • subunit of DNA

- composed of a phosphate group, a five-carbon sugar and 1/4 cyclic nitrogenous bases

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61
Q

what are the 4 nitrogenous bases in DNA

A

adenosine, guanosine, thymidine, cytidine

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62
Q

what is the structure of a polynucleotide chain

A
  • 3’ to 5’ phosphodiester bonds
  • polarity has a direction of 5’-to-3’
  • 5’ end has a free phosphate group
  • 3’ end has a free hydroxyl group
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63
Q

what is the structure of a double helix

A
  • the strands are antiparallel
  • most commonly a right-handed double helix
  • hydrogen bonging between the bases
  • hydrophobic interactions between the “stacked” bases
  • opposite strands are complementary
  • A double bonded to T
  • G triple bonded to C
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64
Q

what is B form DNA

A
  • most common DNA
  • right-handed double helix
  • major groove and minor groove
  • every turn has 10 nucleotides
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65
Q

What is A form DNA

A
  • compacted right-hand double helix

- every turn has 11 nucleotides

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66
Q

What is Z form DNA

A
  • most uncommon, most unknown

- left-hand double helix

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67
Q

what is the first level of DNA condensation

A
  • packing the DNA into nucleosomes
  • the highly positive histones are wrapped in highly negative DNA strands
  • wrapped around a core of 8 histone proteins (2 each of H2A,H2B,H3,H4)
  • anchored by a H1 histone
  • 10nm fibre
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68
Q

what is the second level of DNA condensation

A
  • additional folding/supercoiling

- becomes a 30nm fibre

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69
Q

what is the third level of DNA condensation

A
  • condenses even further
  • attachment of the 30nm fibre at many places
  • becomes a 300nm fibre
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70
Q

what function do telomeres serve

A
  • protect the end of chromosomes
  • resist degration
  • prevent fusion
  • facilitate replication
71
Q

what is the composition of RNA

A
  • a phosphate group, a ribose sugar, and 1/4 nitrogenous bases
72
Q

what is a nucleoside

A
  • a covalent bond between a nitrogenous base and the 1’-carbon atom from the sugar
73
Q

what is a phosphodiester linkage

A
  • the bonds that connect nucleotides

- strong covalent bonds

74
Q

What is topoisomerase II

A
  • breaks the double-helix, rotates the ends and seals the break
75
Q

what are supercoils

A
  • the DNA coils in on itself
  • allows all the base pairs to form
  • under-winding supercoils; result from under-winding the DNA, negative supercoils, most common
    overwinding supercoils; result from overwinding the DNA, positive supercoils
76
Q

what is a nucleoid

A
  • the supercoils of DNA form a structure with multiple loops

- bound together by proteins

77
Q

What is chromatin

A
  • complex of DNA and proteins

- not random; has a fundamental repeating structure

78
Q

What are the 2 types of chromatin

A
  • euchromatin; undergoes the normal processes of condensation and decondensation, majority of chromosomal material, where most transcription takes place
  • heterochromatin; remains in a highly condensed state throughout the entire cell cycle, permanent heterochromatin at the centromeres and the telomeres, can occur for periods of time during development stages, lack of transcription, absence of crossing over and late replication
79
Q

What are histones

A
  • positively charged proteins
  • 5 major types; H1,H2,H2B,H3 and H4
  • attract the negative charges on the phosphates
  • H1 is not part of the histone core, binds to the DNA where it joins and leaves the octamer, lock the DNA in place
80
Q

what are nonhistone chromosomal proteins

A
  • varient histones
  • amino acid groups are incorporated into the chromatin structure instead of one of the major histones
  • changes chromatin structure and function
81
Q

What is a nucleosome

A
  • simplest level of chromatin structure
  • a core particle consisting of DNA wrapped around 8 histone proteins
  • positively charges amino acids on the histones interact with the negative charges on the phosphates of DNA
82
Q

What is linker DNA

A
  • varies in size
  • seperates nucleosomes
  • associated with nonhistone chromosomal DNA
83
Q

How does archaea differ in histones

A
  • does not have histone proteins
  • instead has its own histones that are similar to H3 and H4
  • in groups of 4; tetramer
84
Q

What is the higher order chromatin structure

A

-nucleosomes continue to fold on themselves in order to form denser, more tightly packed structures

85
Q

What are topically associated domains (TADs)

A
  • large regions of chromatin from spatially interacting regions
  • within a TAD the chromatin is tightly packed and interacts with each other
  • the TADs are far enough however that they do not interact with each other
86
Q

What are polytene chromosomes

A
  • giant chromosomes

- occurs when DNA replication occurs without cell division, results in thousands of copies of DNA lined up

87
Q

What are chromosome puffs

A
  • localized swelling of a region of the chromosome
  • the region where active DNA transcription is occurring
  • occurs partly due to the histones loosing their grip on the surrounding DNA
88
Q

What is acetylation

A
  • an enzyme called acetyltransferases attach acetyl groups to lysine amino acids that are on the histone tails
  • reduces the positive charges and destabilizes the nucleosome structure
  • histones hold the DNA less tightly
89
Q

What are epigenetic changes

A
  • stable iterations of chromatin structure that may be passed on to descendant cells or individuals
  • changes that do not alter the DNA sequence
90
Q

What is the centromere

A
  • a constricted region of the chromosome that is the attachment site for kinetochore and for spindle microtubules
  • necessary for proper chromosome movement in mitosis and meiosis
  • span hundreds of thousands of base pairs
  • made of heterochromatin
  • no specific sequence makes up a centromere; most centromeres are defined by the chromatin structure and not the DNA sequence
91
Q

what is CENP-A

A
  • a variant histone protein present in the nucleosomes of centromere which takes the place of the H3 histone
  • necessary for the assembly of proteins associated with the kinetochore
  • alters the nucleosome and chromatin structure which allows the kinetochore proteins to bind and spindle microtubules to attach
92
Q

What are telomeres

A
  • the natural ends of a chromosome
  • serve as caps to stabilize chromosomes and prevent them from degradation
  • in somatic cells, they shorten with each round of cell division
93
Q

what are telometric sequences

A
  • consist of repeating units of a series of adenine or thymine
  • always oriented with a string of Gs and Cs at the end of a chromosome
  • proteins bind to the sting of Gs in order to protect the telomeres from degradation and prevent the chromosome ends from sticking together
94
Q

What are shelterin

A
  • binds to telomeres and protects the ends of the DNA from being repaired
95
Q

What is telomerase

A
  • an enzyme that lengthens the telomeres

prevents chromosome shortening

96
Q

What are ribozymes

A
  • catalytic RNA molecules that can cut out part of their own sequences, connect some RNA together, replicate others and catalyze the formation of peptide bonds between amino acids
97
Q

what is RNA involved in

A
  • many biological processes

- transcription, replication, RNA processing and translation

98
Q

What is RNA

A
  • polymer of nucleotides
  • containing a sugar, a phosphate group and a nitrogenous base
  • joined by phosphodiester bonds
  • contain ribose sugars which contain a free hydroxyl group on the 2’-carbon
  • less stable than DNA
  • contains pyrimidine in replacement of thymine
  • consists of a single polynucleotide strand
99
Q

What is the secondary structure of RNA

A
  • short, complementary regions within the strand pair and form secondary structure
  • called hairpins
  • paired regions are antiparallel
  • determined by the base sequence of the nucleotide strand
  • different RNA strands form different structures
  • structure determines function
100
Q

What is ribosomal RNA (rRNA)

A
  • makes up the ribosome

- site of protein assembly

101
Q

What is messenger RNA (mRNA)

A
  • carries the coding instructions for the polypeptide chain from the DNA to the ribosome
  • specifies the sequence of the amino acids in a polypeptide chain
  • provides a template for the joining of the amino acids
102
Q

What is pre-messenger RNA (pre-mRNA)

A
  • the immediate products of transcription

- modified extensively before they become mRNA

103
Q

What is transfer RNA (tRNA)

A
  • the link between the coding sequence of nucleotides in the mRNA and the amino acids
  • incorporate the amino acids into the polypeptide chains
104
Q

What is small nuclear RNAs (snRNAs)

A
  • combine with small proteins to for small nuclear ribsomucleoproteins (snRNPs)
  • participate in the processing of RNA, converting pre-mRNA to mRNA
105
Q

What are microsRNAs and small interfering RNAs

A
  • located in the cytoplasm
  • carry out RNA interference
  • trigger the degradation of mRNA
106
Q

What are piwi-interacting RNAs

A
  • have a role in suppressing the expression of transposable elements in reproductive cells
107
Q

what is long noncoding RNAs

A
  • does not code for proteins

- provide a variety of functions, including regulation of gene expression

108
Q

What is CRISPR RNAs

A
  • aid in the destruction of foreign DNA molecules
109
Q

What is transcription

A
  • cellular RNA is synthesized from DNA templates
  • only parts of the DNA molecule are transcribed into RNA
  • highly selective process
  • individual genes are transcribed only when they are needed
  • requires 3 major components; a DNA template, raw materials, and a transcription apparatus ( proteins necessary for catalyzing the synthesis of RNA)
110
Q

What is the template for RNA synthesis

A
  • a single strand of a DNA double helix
  • takes place on only one of the 2 nucleotide strands
  • the strand used it the template strand while the other is the contemplate strand
111
Q

What occurs during RNA synthesis

A
  • the RNA strand is complementary and antiparallel to the transcribing DNA strand
  • has the same polarity and base sequence as the nontemplating strand other than the replacement of U for T
112
Q

what is the transcription unit

A
  • a stretch of DNA that encodes the RNA molecule and the sequences that are necessary for transcription
  • includes 3 critical regions; the promoter, the RNA-coding regions and the terminator
113
Q

What is the promoter

A
  • a DNA sequence that the transcription apparatus recognizes and attaches to
  • indicates which of the 2 DNA strands is the template strand
  • determines the way that the DNA is read
  • determines the transcription start cite
114
Q

What is the RNA-coding regions

A
  • a sequence of DNA nucleotides that is copied into an RNA molecule
115
Q

What is a terminator

A
  • a sequence of nucleotides that signals where transcription ends
  • usually part of the RNA coding regions
116
Q

What is ribonucleoside triphosphate

A
  • RNA is synthesized from
  • consisting of a ribose sugar and a base attached to 3 phosphate groups
  • during DNA synthesis, nucleotides are added, 2 of the phosphate groups are then removed and the remaining one participates in a phosphodiester bond that connects it to the RNA molecule
117
Q

What is RNA polymerase

A
  • carries out all the required steps

- enhanced by a number of accessory proteins that join and leave the polymerase at different stages

118
Q

What is core enzyme

A
  • makes up most bacterial RNA polymerases
  • 2 copies of alpha and a single copies of beta, beta prime and omega
  • sigma bond controls the binding of the RNA polymerase to the promoter
119
Q

What are the types of RNA polymerase

A
  • RNA polymerase I; transcribes rRNA
  • RNA polymerase II; transcribes pre-mRNAs, snoRNAs, miRNAs, and snRNAs
  • RNA polymerase III; transcribes other small RNAs
  • RNA polymerase IV; transcribes siRNAs
  • RNA polymerase V; transcribes siRNAs
120
Q

What is the underlying principle of the one gene, one enzyme hypothesis

A
  • an auxotropthic mutant cannot from on a compound that comes before a step that is blocked my a mutation in the pathway
121
Q

What is the one gene, one enzyme hypothesis

A
  • genes function by encoding enzymes and each gene encodes a separate enzyme
  • each step in the pathway is controlled by a different enzyme
  • demonstrate that mutations affecting any one step aways occurred at the same chromosomal location
  • mutations affecting a particular biochemical step occurred at a single locus that encoded a particular enzyme
122
Q

What is a amino acid

A
  • the building blocks of proteins
  • composed of a central atom bonded to an amino group, a hydrogen atom, a carboxyl group and a R group that differs for each
  • the R group helps to determine the chemical properties of each group
  • joined by peptide bonds
123
Q

What is a peptide bond

A
  • join together to form amino acids

- join to create polypeptide chains

124
Q

What is a polypeptide bond

A
  • have polarity

- consist of a free amino group on one end and a free carboxyl group on the other end

125
Q

What is the primary protein structure

A
  • a sequence of amino acids
126
Q

What is the secondary structure of proteins

A
  • the interactions between neighbouring amino acids
  • causes the polypeptide chain to fold and twist
  • beta pleated sheets or alpha helix
127
Q

What is the tertiary structure of proteins

A
  • folding of the secondary structures

- creates a 3-D shape of the protein

128
Q

What is the quaternary structure of proteins

A
  • occurs in proteins that have 2 or more polypeptide chains that associate together
129
Q

What is a codon

A
  • the set of nucleotides that are read together to form a amino acid
  • must contain a minimum if 3 nucleotides (triplet codons)
  • formed by A,G,C and U
130
Q

what are sense codons

A
  • the 61 codons that actually code amino acids
131
Q

What is degenerate

A
  • multiple physical states that have equivalent meaning

- amino acids that are coded by multiple codons

132
Q

What are synonymous codons

A
  • codons that specify the same amino acids
133
Q

What are isoaccepting tRNAs

A
  • different tRNAs that accept the same amino acids but have different anticodons
134
Q

What is a wobble in pairing

A
  • flexibility in the pairing of the 3rd codon

- caused by the fact that some nonstandard pairings of bases can take place in the 3rd codon

135
Q

what is the initiation codon

A
  • the first codon of mRNA to specify an amino acid
  • most often AUG
  • it marks the beginning of translation but also codes an amino acid
136
Q

what is a termination codon

A
  • 3 codons that do not encode amino acids
  • UAA,UAG and UGA
  • signal the end of translation
137
Q

What is a mutation

A
  • an inherited change in the DNA sequence of genetic material
  • descendants that inherit the change can be cells or organisms
  • the source of all genetic variation
138
Q

What are somatic mutations

A
  • arise in somatic tissues
  • do not produce gametes
  • passed to the daughter cells when the somatic cell divides
  • many have no obvious effect on the phenotype of the organism
  • the function is usually taken over by the functioning cells around it or the mutant cell dies
139
Q

What are germ-line mutations

A
  • arise in cells that ultimately produce gametes
  • can be passed to future generations, producing offspring that carry the mutation
  • gene mutations vs chromosome mutations
140
Q

What is a base substitution mutation

A
  • the alteration of a single nucleotide
  • transition; a purine is replaced by a different purine or a pyrimidine is replaced by another pyrimidine
  • transversion; a purine is replaced by a pyrimidine or vice versa
141
Q

What is a insertion or deletion mutation

A
  • the addition or subtraction of one or more nucleotide pairs
142
Q

What is a frameshift mutation

A
  • changes in the reading frame
  • alter all of the amino acids following the mutation
  • can introduce premature stop codons
143
Q

What are expanding nucleotide repeats

A
  • the number of copies of a set of nucleotides increases
  • most commonly caused by the CNG combination; N can be any codon
  • stability and severity depends on the number of repetitions
144
Q

What is a forward mutation

A
  • a mutation that alters the wild-type phenotype
145
Q

What is a reverse mutation

A
  • changes a mutant phenotype back into the wild type
146
Q

What is a silent mutation

A
  • changes the codon to a synonymous codon
  • some alter nucleotides that serve as binding sites for regulatory proteins or alter sequences that affect mRNA splicing
147
Q

What is a neutral mutation

A
  • a missense mutation that alters the amino aid but does not significantly change the function
  • the amino acid is replaced by one that is chemically similar
148
Q

What is a loss-of-function mutation

A
  • complete or partial absence of normal protein function
  • alters the structure of the protein so that it no longer works correctly or affects the transcription, translation and splicing
149
Q

What is a gain-of-function mutation

A
  • causes the cell to produce a protein or gene that causes a function that is not normally present
150
Q

What is a conditional mutation

A
  • mutations that are expressed only under certain conditions
151
Q

What is a surpressor mutation

A
  • a genetic change that hides the effect of another mutation

- occurs at a site distinct from the site of the original mutation

152
Q

What is a intragenic suppressor mutation

A
  • takes place in the same gene that contains the gene being suppressed
  • may change another codon in the affected triplet in order to correct the change in coding
  • may surprise a frameshift mutation
153
Q

what is a intergeneric suppressor mutation

A
  • occurs in a gene other than the one bearing the original mutation that it surpresses
  • change the way that the mRNA is translated
154
Q

What is a mutation rate

A
  • the frequency with which a wild-type allele at a locus changes to a mutant allele
  • expressed as the number of mutations per cell division, per gamete or per round of replication
  • how often a mutation arises
155
Q

What are the factors affecting mutation rate

A
  • the frequency with which changes in the DNA take place
  • the probability that when a alteration takes place, it will be repaired
  • the probability that a mutation will be detected
156
Q

What causes differences in mutation rates

A
  • ability to repair mutations, unequal exposures to mutagens or biological differences in rates of spontaneous mutation
  • fewer mutations occur in DNA sequences that are associated with nucleosomes
157
Q

What is an adaptive mutation

A
  • mutations that occur due to increased stress in the environment
158
Q

What are spontaneous mutations

A
  • result from both internal and external factors under normal conditions
159
Q

What are induced mutations

A
  • result from changes in environmental chemicals or radiation
160
Q

What are tautomeric shifts

A
  • primary cause of spontaneous replication errors

- positions of protons in the DNA bases change

161
Q

What are mispairings

A
  • mispairing between bases in DNA can arise through a wobble
162
Q

What are incorporated errors

A
  • a base substitution causes a mispaired base to be incorporated into a newly synthesized nucleotide chain
163
Q

what is strand slippage

A
  • occur when one nucleotide strand forms a small loop

- produces insertions and deletions from uneven crossover

164
Q

What is depuration

A
  • the loss of a purine base from a nucleotide

- common cause of spontaneous mutation

165
Q

What is deamination

A
  • the loss of a amino group from a base
166
Q

What is a mutagen

A

any environmental agent the significantly increases the rate of mutation above the spontaneous rate

167
Q

What are base analogs

A
  • chemical structures similar to those of any of the 4 standard nitrogenous bases of DNA
  • if any base analogs are present during replication, they may be incorporated into newly synthesized DNA
  • mutations caused by base analogs can be reversed by treatment with the same or different analogs
168
Q

What are alkylating agents

A
  • chemicals that donate alkyl groups

- mutations cued by EMS can be reversed with more EMS

169
Q

what is hydroxylamine

A
  • a very specific base-modifying mutagen that adds a hydroxyl group to cytosine, converting it into hyroxylaminocytosine
  • increases the frequency if a rare tautomer that pairs with adenine instead of guanine
170
Q

What are oxidative radicals

A
  • reactive forms of oxygen
  • produced in the course of normal aerobic metabolism
  • damage DNA and induce mutations
171
Q

What are intercalating agents

A
  • proflavin, acridine orange, ethidium bromide and dioxin
  • produce mutations by sandwiching themselves between adjacent bases in DNA, distorting its 3-D shape
  • causing single-nucleotide insertions and deletions in replication –> frequently produce frameshift mutations
  • can reverse themselves
172
Q

What is radiation mutations

A
  • greatly increase mutation rates in all organisms
  • dislodge electrons from the atoms that they encounter, changing stable molecules into free radicals and reactive ions; alter the structures of bases and break phosphodiester bonds
173
Q

What are pyrimidine dimers

A

bulky lesions that distort the configuration of DNA and block replication

174
Q

What is the SOS system

A
  • a system that overcomes these blocks and allows replication to proceed even with pyrimidine dimers present