13.3 and 13.4 Flashcards

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1
Q

changes to

the bases of DNA or RNA

A

mutations

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2
Q

Change the DNA →

A

changes the mRNA

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3
Q

Change the mRNA →

A

changes the protein

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4
Q

Change protein →

A

changes trait

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5
Q

mutations are usually

A

Usually are spontaneous and random

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6
Q

Causes of mutations

A

Errors in DNA replication or transcription

Caused by environmental factors called mutagens

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7
Q

ex of mutations

A

Ex UV radiation, x-rays, some chemicals (pollutants,

pesticides, tobacco products & smoke)

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8
Q

Mutations can occur in:

A

somatic (body) and gametes (sex) cells

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9
Q

(not passed to offspring but does

affect the organism)

A

somatic (body) cells

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10
Q

(does not affect the organism

but will be passed onto offspring)

A

gametes AKA sex cells

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11
Q

affect a single gene, nucleotide bases

changed

A

gene mutations

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12
Q

produce changes in part of a

chromosome, the whole chromosome, or sets of chromosomes

A

Chromosomal mutations-

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13
Q

affect only 1 gene, usually
happen during replication, can be passed on to every cell that
is produced from it

A

gene mutations

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14
Q

2 types of gene mutations

A

point and frameshift

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15
Q

Change or substituting 1 letter for
another in DNA

May or may not change the protein

A

point mutations

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16
Q

point mutations are

A

substitutions

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17
Q

frameshift mutations are

A

(insertions or

deletions)

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18
Q

Adding or deleting 1 letter in DNA

These shift or change the “reading
frame” (the way the ribosome reads
the codons)

Causes big changes to protein
(proteins might not work)

A

frameshift mutations

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19
Q

CAA and CAT code for same a.a., DOESN’T change the amino acid so does
not change protein, so neutral mutation

Changes only 1 amino acid and sometimes no effect if they still code
for same amino acid called

A

silent mutations

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20
Q

Changes the codon to a STOP codon

Protein is shorter than usual and might not work

A

nonsense mutations

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21
Q

Disorders Caused by Point

Nonsense Mutations

A

Cystic fibrosis

Muscular dystrophy

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22
Q

Mutation that causes a lack of dystrophin, a
protein that keeps muscles intact

Leads to severe muscle weakness

Trouble walking, breathing, swallowing.

Often have a curved spine or difficulty in releasing
muscle tension

Live on average 40 or 50 years

A

Muscular dystrophy

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23
Q

Chronic lung infections due to buildup of thick
mucus in lungs and pancreas

Cannot be around others with CF

Live on average 40 years

A

Cystic fibrosis

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24
Q

(substitutions- point mutation) or (insertions and deletions
then called frameshift mutations)

Changes 1 amino acid because by changing 1 base in DNA which changes
the whole protein, if a frameshift mutation it is even worse because it
changes multiple amino acids

A

misense mutations

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25
Q

Changes every amino acid after the mutation by changing the

“reading frame” of codons, so changes protein

A

Frameshift Mutations

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26
Q

1 base is added to DNA

A

addition

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27
Q

1 base is deleted from DNA

A

deletion

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28
Q

Disorders Caused by

Frameshift Missense Mutations

A

Sickle Cell Anemia- 1 base

Progeria- substitution

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29
Q

Single base change causes a change in
hemoglobin shape

Sickle cells struggle to move through blood
vessels, leading to anemia (lack of oxygen),
fatigue, frequent pain

A

sickle cell amenia

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30
Q

Very rare disorder where the protein (progerin)
that slows aging gets easily destroyed. Cells age
very quickly, leading to stiff joints, hair loss, and
strokes.

13 year average life span

Leads to fatal heart complications

A

progeria

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31
Q

Disorder Caused by

Insertion

A

Huntington’s Disease

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32
Q

Insertion of a gene multiple times

Protein called Huntingtin carries molecules
outside of the cell

Disease causes destruction in the portion of
the brain that controls movement, emotion
and cognitive ability

Currently no cure

Generally affects those 30-50 years old
(inherited)

A

Huntington’s disease

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33
Q

Chromosomal Mutations-

A

deletion, duplication, Inversion-, translocation

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34
Q

1 section or gene of

chromosome deleted

A

deletion

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35
Q

1 section or gene of

chromosome is doubled

A

duplication

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36
Q

1 section or
gene(s) breaks off and
reattaches backwards

A

inversion

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37
Q

1 section
or gene(s) breaks off and
attaches to a NEW
chromosome

A

translocation

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38
Q

chromosomal deletion ex

A

Example: Cri-du-chat (5p minus) – a piece of

chromosome 5

39
Q

Inherited disease of the peripheral nerves(myelin
sheaths) that control movement

Causes slow loss of function and movement in
arms/legs

A

Charcot-Marie Tooth Disease

40
Q

Very rare disorder caused by a duplication of a
region on the 22nd chromosome

Heart and kidney defects

Fused fingers & toes

Some intellectual disabilities

A

cat eye syndrome

41
Q

Disorders caused by Duplication

A

Charcot-Marie Tooth Disease

Cat Eye Syndrome

42
Q

reverses the direction of parts of a chromosome.

A

chromosomal inversion

43
Q

occurs when part of one chromosome breaks off and attaches to
another.

A

chromosomal translocation

44
Q

chromosomal translocation

A

Example: acute myeloid leukemia (chromosomes 8

and 21)

45
Q

When chromosomes do not properly
separate during meiosis (in anaphase)
when gametes are formed

A

nondisjunction

46
Q

Nondisjunction Can happen during 2 different times:

A

anaphase I, anaphase II

47
Q

Anaphase 1

A

Homologous chromosomes do not

separate

48
Q

Anaphase 2

A

Sister chromatids do not separate

49
Q

Effects of Nondisjunction

A

If one chromosome is involved, one extra is called trisomy

one less is monosomy

50
Q

Have 3 copies of chromosome 21

Caused by non-disjunction of gametes, affecting
embryonic development

Delayed
learning and
physical
growth

Distinct facial
features

A

Down Syndrome (Trisomy 21)

51
Q

If nondisjunction involves a set of chromosomes:

A

The condition in which an organism has extra sets of

chromosomes is called polyploidy.

52
Q

polyploidy ex

A

Triploid (3n)

Tetraploid (4n)

Polyploid (many sets)

53
Q

often make use of “good”

mutations.

A

Plant and animal breeders

54
Q

when a complete set of chromosomes fails to
separate during meiosis, the ________ that result may produce
triploid (3N) or tetraploid (4N) organisms.

A

gametes

55
Q

are often larger and stronger than

diploid plants.

A

Polyploid plants

56
Q

Important crop plants—including _______ and ______—have been produced this way.

A

bananas and limes

57
Q

Polyploidy also occurs naturally in _____ plants, often

through spontaneous mutations.

A

citrus

58
Q

Without mutations, organisms cannot evolve, because

A

mutations are

the source of genetic variability in a species.

59
Q

Sickle cell disease is caused by a point mutation in one of the
polypeptides found in

A

hemoglobin

60
Q

the blood’s principal

oxygen-carrying protein.

A

hemoglobin

61
Q

Among the symptoms of sickle cell disease are

A

anemia, severe pain,

frequent infections, and stunted growth.

62
Q

mutations have helped many insects resist

A

chemical pesticides

63
Q

Some mutations have enabled _________ to adapt to new

chemicals in the environment.

A

microorganisms

64
Q

Flow of information from DNA to

protein to trait

A

gene expression

65
Q

used to synthesize

proteins thus influencing traits

A

DNA sequences

66
Q

In humans, some genes are always
“turned on” for day to day function
(Ex:

A

enzymes for cell respiration)

67
Q

Genes that are “turned on” will be

A

transcribed and translocated into a protein

68
Q

Controlling gene expression by turning genes “on” and “off”

Controlled differently in prokaryotes and eukaryotes

A

gene regulation

69
Q

Bacteria regulate gene expression by
blocking transcription if protein not
needed

A

prokaryotic regulation

70
Q

group of genes regulated
(turned on and off) together

These genes usually have the
same or similar functions

A

Operons-

71
Q

Operons contain regulatory DNA sequences that allow regulatory proteins to
turn the expression

A

up or down

72
Q

regions allow RNA polymerase to bind to DNA, 1st right before gene

A

promoter

73
Q

regions of DNA where repressor proteins can bind, right after the
promoter, 2nd before the gene

A

operators

74
Q

blocks RNA polymerase and turn operons “off”= no transcription so
no mRNA made

A

repressors

75
Q

turn operons “on” = binds to DNA for RNA polymerase to allow

transcription to occur so mRNA made

A

activators

76
Q

Lac operon in E. coli turns on & off when bacteria needs to use

A

lactose

77
Q

The lac operon is turned ___ when lactose is present.

A

on

78
Q

Lactose binds to the repressor, allowing it to detach from the operon and for RNA
polymerase can transcribe ____.

A

mRNA

79
Q

is used to make enzymes needed to digest lactose (so gene is expressed).

A

mRNA

80
Q

Most genes controlled
individually

Different cells will express
different sets of genes (even
though they all contain the
same DNA) → this makes cells
specialize

Controlled by transcription
factors (see next slide)

A

Eukaryotic Gene Regulation

81
Q

Eukaryotic Gene Regulation includes the

A

TATA box

82
Q

Proteins that form a binding site
at TATA box to specific DNA
sequences (promoter) to enhance
or repress transcription by:

A

Help RNA polymerase bind
to DNA promoter turn “on”
OR

Block access to promoter
turn “off”

83
Q

Most genes controlled by many

A

Most genes controlled by many

transcription factors

84
Q

(Eukaryotes only)

A

Transcription Factors

85
Q

Cells contain very small RNA sequences (called microRNA or
miRNA) that aren’t mRNA, tRNA or rRNA
These miRNA sequences become silencer complexes that bind
to any mRNA that is complementary to the miRNA

which blocks expression of that mRNA

A

RNA interference

86
Q

A powerful way to study gene expression in the laboratory.

May provide new ways to treat and perhaps cure diseases.

A

Using RNAi (RNA Interference) Technology

87
Q

Make miRNA to synthetically turn off the expression of genes from

A

viruses and cancer cells

88
Q

caused by a single autosomal dominant mutant gene.
The gene produces a protein that causes brain abnormalities, which in turn
interfere with coordination, speech, and mental abilities.

A

Huntington’s disease

89
Q

helps cells undergo differentiation & become

specialized in structure & function.

A

gene regulation

90
Q

regulate organs that develop in specific parts of the body.

A

Homeotic genes-

91
Q

similar 180-base DNA sequence found in homeotic genes.

A

Homeobox-

92
Q

group of homeobox genes.

located side by side in a single cluster

tell the cells of the body how to differentiate as the body grows.

Nearly all animals, from flies to mammals, share the same basic tools
for building the different parts of the body.

A

Hox box

93
Q

Common patterns of genetic control exist because

A

all these genes have

descended from the genes of common ancestors.

94
Q

Environmental Influences on Gene Expression ex

A

Presence of lactose influences
expression of lac gene in E. coli

Himalayan rabbits develop dark
spots in areas where heat is lost if
reared in colder temps.

Tadpoles speed up metamorphosis
if they’re surrounded in a pond
with many predators and little
food