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Human Genetics > Exam II review starting w/Lecture 18 > Flashcards

Exam II review starting w/Lecture 18 Flashcards

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Biology 101 flashcards
1
Q

Several key differences b/w gene regulation in eukaryotes and bacteria

A

In eukaryotes:
-Each gene has its own promotor and is transcribed separate
DNA must unwind from histones before transcription
Transcription/Translation are separated in time and space

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2
Q

What caused hemophilia in the family of Tsar Nicholas

A

Defect in splice site caused inactivation of hemophilia gene

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3
Q

Collinearity

A

Concept that a continuous sequence of nucleotides in DNA encodes a continuous sequence of AAs in proteins
-The number of nucleotides in gene is proportional to number of AAs in protein

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4
Q

Do eukaryotic genes display collinearity, and how was this decision made

A

It does not appear so. After hybridizing DNA to mRNA, researchers realized that there are non-coding regions of DNA b/w some coding regions

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5
Q

Which sequences at beginning and end of RNA are not translated

A

Promotor, RNA coding sequence, Terminator

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6
Q

Function of 5’ cap

A

Facilitates binding of ribosome to 5’ end of mRNA

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7
Q

Function of 3’ tail

A

Increases stability, facilitates binding of ribosome

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8
Q

RNA editing does what

A

Alters nucleotide sequence of mRNA

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9
Q

RNA splicing function

A

Removes noncoding introns

Facilitates export of mRNA to cytoplasm

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10
Q

Splicing of pre-mRNA requres

A

Consensus sequences at the 5’ and 3’ splice sites and a weak one at the branch point

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11
Q

RNA splicing takes place within a

A

Spliceosome

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12
Q

If a splice site were mutated and splicing did not take place, what would happen to the protein encoded

A

It would be shorter than normal

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13
Q

RNA editing is carried out by

A

Guide RNAs

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14
Q

Steps in RNA posttranscriptional processing

A
  • 5’ cap is added
  • 3’ poly a tail added
  • RNA splicing
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15
Q

siRNA origin, target

A

Origin- mRNA, transposon or virus

Target- Genes from which they were transcribed

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16
Q

miRNA origin, target

A

Origin- RNA transcribed from distinct gene

Target- Genes other than those from which they were transcribed

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17
Q

snoRNA

A

Primarily guide chemical modifications of other RNA

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18
Q

Formation of rRNA

A

Produced from precursor RNA transcripts that are methylated, cleaved and proceed to mature rRNA

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19
Q

Somatic mutations

A

Arise in tissues other than those that produce gametes

Not passed on

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20
Q

Germ-line mutations

A

Arise in tissues that produce gametes

Passed to offspring

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21
Q

De novo mutation

A

Alteration in gene that is present for the first time in one family member
Can be germ line or somatic

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22
Q

Transition mutation

A

Substitution of a purine for a purine or pyrimidine for pyrimidine

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23
Q

Transversion mutation

A

Purine for pyrimidine or visa versa

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24
Q

Loss of function mutation

A

Complete or partial absence of normal function

Usually recessive

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25
Q

Neutral mutation

A

Missense mutation that alters the amino acid sequence but does not change function

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26
Q

Silent mutation

A

Mutation changes codon sequence but not the amino acid

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27
Q

Missense mutation

A

Base substitution that results in a different amino acid

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28
Q

Nonsense mutation

A

Mutation that changes a sense codon into a termination codon

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29
Q

Tautomeric shifts

A

Proton position shifts, allowing mispairing of a base

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30
Q

What causes insertions and deletions

A

Unequal crossing over

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31
Q

Intercalating agents

A

Insert themselves between adjacent bases in DNA, distorting the helix

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32
Q

Ames test

A

Bacteria that cannot synthesize histidine due to a mutation are placed in a histidine-free media and exposed to a mutagen
-Any chemical that increases the number of colonies (due to reverse mutation) is mutagenic and likely carcinogenic

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33
Q

Base excision repair

A

Removes and replaces single mismatches

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34
Q

Nucleotide excision repair

A

Removes bulky DNA lesions like pyrimidine dimers

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35
Q

Xeroderma pigmentosum is caused by

A

Defect in NER

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36
Q

Direct repair

A

Example- methyltransferase removes extra methyl group that had caused pyrimidine alkylation (Guanine->O6 methylguanine)- restores back to guanine

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37
Q

Transposable elements make up what % of DNA

A

45

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38
Q

Short flanking direct repeats

A

Short flanking repeats are present on both sides of the TE

  • Do not travel with the TE
  • Regenerated at the point of insertion after staggered cuts are made
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39
Q

Terminal inverted repeats

A

Sequences are inverted and complementary on the same strand
Recognized by enzyme that catalyze transposition
Required for transposition

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40
Q

Replicative transposition

A

Copy and paste- new copy is introduced at new site while old copy remains at original site

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41
Q

Enzymes involved in replicative transposition

A

Transposase- binds to end of transposon and catalyzes the movement
Resolvase- Separates the two transposons contained in a cointegrate

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42
Q

Non replicative transposition

A

Cut and paste- removed from one area of DNA and added to another

  • Cleavage requires transposase produced by transposable element
  • Original site repaired using homologous template
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43
Q

Retrotransposons

A

RNA transcribed from DNA transposable element
RNA is copied back to another DNA site using reverse transcriptase
-Have long terminal direct repeats
-These are more common that DNA transposons in eukaryotes

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44
Q

SINE and LINES constitute what % of DNA respectively

A

SINEs- 11%

LINES- 21%

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45
Q

Transposable element oriented in same direction leads to

A

Deletion

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46
Q

Transposable elements oriented in opposite direction leads to

A

Inversion

47
Q

Transposons in genome evolution

A

Some say it has no positive effect and is only harmful

Some say it creates genetic diversity and is useful

48
Q

Effect of mutated p53 on transposable elements/cancer

A

P53 may be a repressor of transposable elements. If it is not functioning, excessive transposable elements may destabilize the genome

49
Q

Human genome project social consequences

A

First large scientific undertaking to dedicate a portion of its budget for research into social, legal and ethical implications of the increasing knowledge of human genetic makeup

50
Q

Genomics is

A

The branch of molecular biology concerned with structure, function, evolution and mapping of genomes

51
Q

Whole genome mutagenesis

A

Can identify genes associated with specific traits

52
Q

Synthetic genomics

A

Uses aspects of genetic modification of pre-existing life forms, or artificial gene synthesis, to create new DNA/chromosomes or entire lifeforms

53
Q

Metagenomics

A

The study of genetic material recovered directly from environmental samples
-evaluating human microbes

54
Q

Comparative genomics

A

Comparing genomic features among organisms

Look at evolutionary changes

55
Q

Paleogenomics

A

The study of the evolutionary history through the examination of preserved genetic material from the remains of ancient organisms (this is also comparative genomics)

56
Q

HLI

A

Human longevity inc.

Combines genomic and phenotypic information to accelerate the understanding of human health

57
Q

SDS PAGE

A

Method for the separation of charged molecules by their molecular masses
-Denatured proteins

58
Q

Isoelectric focusing

A

Separates native proteins by differences in their isoelectric point

59
Q

2D PAGE

A

Proteins are separated by charge in one dimension and by mass in the other dimension

60
Q

Mass spectrometry

A

Ionizes chemical species and sorts them based on their mass to charge ratio
-Can determine the identity of a protein in question as long as it has been identified previously and is in system

61
Q

Protein microarray

A

Tracks the interactions b/w proteins and can determine the function of proteins on a large scale

62
Q

Yeast 2 hybrid

A

Takes advantage of fact that binding domain and activating domains can still work when separated but placed close together
-Identifies protein-protein interaction or protein-DNA interaction on small scale

63
Q

Interactome

A

The whole set of molecular interactions in a particular cell

64
Q

Mechanism of prion disease

A

a-helix converted to b-sheet structure causes prion
Triggers chain reaction that forms amyloid fibers and plaques
Cruetzfeldt-Jacob disease
BSE mad cow disease

65
Q

SIFT

A

Predicts whether an amino acid substitution affects protein function

66
Q

Ab neutralisation

A

Neutralizing Abs block parts of the surface of bacterial cell to render its attack ineffective

67
Q

Ab agglutination

A

Abs glue together foreign cells into clumps that are attractive for phagocytosis

68
Q

Ab precipitation

A

Abs glue together serum-soluble antigens, forcing them to precipitate out of solution in clumps that are attractive for phagocytosis

69
Q

The most important genes deciding the fate of a transplanted cell/organ belong to the ___ family

A

MHC

70
Q

MHC gene is located on chromosome

A

6

71
Q

Genes in what family are linked to Type 1 Diabetes

A

HLA family account for approximately 40-50% of familial T1D

72
Q

The hygiene hypothesis

A

A farming environment protects against development of asthma, hay fever and atopic sensitization in children

73
Q

Determination

A

Cell becomes restricted to given developmental pathway

74
Q

Differentiation

A

Cell becomes dedicated to perform a specific function

75
Q

Embryonic stem cells are (potency), they are found where and can become

A

Pleuripotent- found in ICM of blastocyst, can form any cell in body besides placenta

76
Q

Where are totipotent cells found

A

In the morula

77
Q

Hematopoietic stem cells are (potency)

A

Multipotent

78
Q

Somatic cell nuclear transfer

A

Used to clone sheep/monkeys

Nucleus taken out of egg cell, replaced with nucleus from donor cell and develops normally

79
Q

Egg polarity gene function

A

Establishment of main body axes (anterior-posterior/dorsal-ventral)

80
Q

Segmentation gene function

A

Determination of number and polarity of body segments

81
Q

Homeotic gene function

A

Establishment of identity of each segment

82
Q

Egg polarity genes are from mom/dad

A

Maternal origin- determination of axes of embryo are initiated by maternal mRNA

83
Q

Morphogen

A

A protein that affects the developmental fate of surround region through a concentration gradient

84
Q

Determination of the dorsal ventral axis is by

A

Dorsal gen

85
Q

Determination of the anterior posterior axis is by

A

Bicoid, nanos, hunchback genes
Bicoid is concentrated anteriorly
Nanos is concentrated posteriorly

86
Q

Gap gene mutations

A

Delete groups of adjacent segments

87
Q

Pair-rule gene mutation

A

Delete same part of pattern in every other segment

88
Q

Segment polarity gene mutation

A

Affect polarity of segment; part of segment replaced by mirror image of part of another segment

89
Q

Homeotic genes

A

Determine the identity of individual segments

90
Q

Hox genes

A

Products are TFs
They contain DNA sequence Homeobox- encodes a protein domain (the homeodomain) which when expressed can bind DNA
-Order of hox genes is physically the same as order of expression on anterior-posterior axis of developing animal

91
Q

Tbox genes

A

Plays role in inducing mesodermal germ layer and coordinating outgrowth of arm/leg

92
Q

Helix loop helix genes

A

Important in myogenesis
Code for helix loop helix TFs
Involved in homodimerization and heterodimerization

93
Q

Forkhead (Fox) genes

A

Type of helix loop helix family

Expressed in many developing organs throughout the body

94
Q

Homeobox containing genes play major role in

A

Cranio-caudal segmentation, not only along main body axis but within development of many organs

95
Q

Homeobox containing genes are activated 5-3 or 3-5 fashion

A

3-5 fashion, opposite of transcription direction

Genes on 3’ end are expressed earlier and more anteriorly than on 5’ end

96
Q

Loss of function mutations in homeobox results in

A

Posterior to anterior transformations

97
Q

Gain of function mutations in homeobox results in

A

Anterior to posterior transformations

98
Q

Homeobox is ____ nucleotide sequence coding for ___ amino acid homeodomain

A

180 nucleotide sequence coding for the 60 amino acid homeodomain

99
Q

Hox genes in mammals

A

4 clusters of Hox genes containing 9-11 genes each

100
Q

Order of homeobox genes activated

A 
Egg polarity genes
Gap genes
Pair rule genes
Segment polarity genes
Homeotic genes
101
Q

Heterotaxy

A

Lack of differentiation of right sided and left sided organs during fetal development
(may have two right lungs)

102
Q

Population genetics

A

The study of the distribution and change in frequency of alleles within populations

103
Q

Evolution

A

A change in the gene frequency over time in a population

104
Q

Population

A

A group of interbreeding, sexually reproducing individuals sharing a common set of genes

105
Q

Hardy Weinberg law

A

Allele and genotype frequencies in a population will remain constant from generation to generation in the absence of other evolutionary influences

106
Q

Hardy Weinberg assumptions

A 
Population is large
Random mating
No mutations
No migration
No natural selection
107
Q

Alleles identical by descent

A

Alleles descended from the same copy in a common ancestor

108
Q

Alleles identical by state

A

Alleles that are the same in structure and function but are descended from two different copies in ancestors

109
Q

Inbreeding depression

A

Increased appearance of lethal and deleterious traits with inbreeding
Inbreeding increases the percentage of homozygous individuals in the population

110
Q

Outcrossing

A

The avoidance of mating between related individuals

111
Q

Natural selection

A

The differential survival and reproduction of individuals due to difference in phenotype

112
Q

Migration

A

Movement of populations, groups or individuals. Migration enables gene flow - movement of genes from one population to another

113
Q

Genetic drift

A

The change in frequency of a gene allele in a population due to random sampling of organisms

Human Genetics (13 decks)

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