8.1 why do cells divide? - gavilan...
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1.
Describe the structure of DNA. Be sure to include what forms the skeleton and how are the strands held together?
2.
Compare and contrast chromosomes, chromatids, genes, and alleles.3.
Compare and contrast prokaryotic and eukaryotic cell division.4.
Describe the process of asexual reproduction in eukaryotic cells. (DNA replication and mitosis)5.
Compare and contrast animal and plant cell asexual reproduction.
(mitosis)6.
Compare and contrast mitosis and meiosis.7.
Without genetic testing how could you determine if an organism is homozygous or heterozygous for a specific trait (ie
hair color)?8.
Describe three ways that genetic variability is increased.9.
Two fruitflies
are bred. One is true breeding for red eyes and one is true breeding for white eyes. Red eyes are dominant. What will the genotype and phenotype of the offspring be?
10.If two of the offspring of the above match are crossbred what will the genotype and phenotype of their offspring be?
11.In the above examples how would the genotypes and phenotypes be different if red eye color was partially dominant producing pink eyes when heterozygous?
12.In the example above (#9) the red-eyed fruitfly
has straight wings and the white-eyed fruitfly
has wrinkled wings. Straight wings are dominant. What would the genotype and phenotype of the offspring be?
13.What characteristics can make genetic disorders more likely to be passed from one generation to the next? (at least 3)
14.Describe the process of DNA replication. What is meant by semiconservative
replication? How are continuous synthesis and discontinuous synthesis involved in the
process?15.How common are mistakes in replication? What safeguards are in place to prevent mistakes?
What types of mistakes are relatively common?16.Compare and contrast DNA and RNA.17.Describe the process of transcription.18.Describe the process of translation.19.What are codons
and how do they function in protein synthesis?20.Describe the ways by which gene expression may be regulated.
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8.1 Why Do Cells Divide?
Cells reproduce by cell division.• One cell gives rise to two or more cells, called
daughter cells.• Each daughter cell receives a complete set of
heredity information—identical to the information in the parent cell—and about half of the cytoplasm.
Cell division transmits hereditary information to each daughter cell.• The hereditary information in each cell is
deoxyribonucleic acid (DNA).• DNA is contained in chromosomes.• A molecule of DNA consists of smaller subunits called
nucleotides.
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8.1 Nucleotide Structure
A nucleotide consists of a phosphate, a sugar (deoxyribose), and one of four bases.• Adenine (A) • Thymine (T)• Guanine (G)• Cytosine (C).
The nucleotides are held together by hydrogen bonding between the bases in two strands forming a double helix.
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8.1 Why Do Cells Divide?
The structure of DNA
Fig. 8-1(a) (b)
nucleotidephosphatebasesugar
A single strand of DNA The double helix
A
C
A
T
A
A
A
T
T
T
GC
AT
C G
G
C
C
G
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8.1 Why Do Cells Divide?
Genes, segments DNA, are the units of inheritance.
Each gene spells out the instructions for making one or more proteins.
When a cell divides, it first replicates its DNA, and a copy is transferred into each daughter cell.
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8.1 Why Do Cells Divide?
Cell division is required for growth and development.• Cell division in which the daughter cells are
genetically identical to the parent cell is called mitotic cell division.
• After cell division, the daughter cells may grow and divide again, or may differentiate, becoming specialized for specific functions.
• The repeating pattern of division, growth, and differentiation followed again by division is called the cell cycle.
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8.1 Why Do Cells Divide?
Most multicellular
organisms have three categories of cells.• Stem cells: retain the ability to divide and can
differentiate into a variety of cell types• Other cells capable of dividing: typically
differentiate only into one or two different cell types (progenitor cells)
• Permanently differentiated cells: differentiated cells that can never divide again
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8.1 Why Do Cells Divide?
Cell division is required for sexual and asexual reproduction.• Sexual reproduction in eukaryotic organisms
occurs when offspring are produced by the fusion of gametes (sperm and eggs) from two adults.
• Gametes are produced by meiotic cell division, which results in daughter cells with exactly half of the genetic information of their parent cells.
• Fertilization of an egg by a sperm results in the restoration of the full complement of hereditary information in the offspring.
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8.1 Why Do Cells Divide?
Reproduction in which offspring are formed from a single parent, without having a sperm fertilize an egg, is called asexual reproduction.• Asexual reproduction produces offspring that
are genetically identical to the parent.• Examples of asexual reproduction occur in
bacteria, single-celled eukaryotic organisms, multicellular
organisms such as Hydra, and
many trees, plants, and fungi.
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8.2 What Occurs During The Prokaryotic Cell Cycle?
The prokaryotic cell cycle consists of a long period of growth, during which the cell duplicates its DNA.
The prokaryotic cell cycle
cell division by binary fission
cell growth and DNA replication
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8.2 What Occurs During the Prokaryotic Cell Cycle?
Cell division in prokaryotes occurs by binary fission, which means “splitting in two.”
The prokaryotic chromosome is attached at one point to the plasma membrane of the cell.
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8.2 The Prokaryotic Cell Cycle?
Fig. 8-3b(1)
cell wall
plasma membrane
circular DNA
attachment site
The circular DNA double helix is attached to the plasma membrane at one point.
The DNA replicates and the two DNA double helices attach to the plasma membrane at nearby points.
New plasma membrane is added between the attachment points, pushing them further apart.
The plasma membrane grows inward at the middle of the cell.
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8.2 The Prokaryotic Cell Cycle
The prokaryotic cell cycle (continued)
Fig. 8-3b(5)
The parent cell divides into two daughter cells.
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8.3 How Is The DNA In Eukaryotic Cells Organized?
Unlike prokaryotic chromosomes, eukaryotic chromosomes are separated from the cytoplasm by a membrane-bound nucleus.
Eukaryotic cells always have multiple chromosomes.
Eukaryotic chromosomes contain more DNA than prokaryotic chromosomes.
The eukaryotic chromosome consists of DNA bound to protein.
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8.3 How Is The DNA In Eukaryotic Cells Organized?
Duplicated chromosomes separate during cell division.• Prior to cell division, the DNA within each
chromosome is replicated.• The duplicated chromosomes then consist of two
DNA double helixes and associated proteins that are attached to each other at the centromere. Each of the duplicated chromosomes attached at the centromere
is called a sister chromatid.• During mitotic cell division, the sister chromatids
separate and each becomes a separate chromosome that is delivered to one of the two resulting daughter cells.
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sister chromatids
centromere genes
duplicated chromosome (2 DNA double helices)
A replicated chromosome consists of two sister chromatids
Sister chromatids separate during cell division
(a)
(b)
independent daughter chromosomes, each with one identical DNAdouble helix
8.3 How Is the DNA In Eukaryotic Cells Organized?
Eukaryotic chromosomes during cell division
Fig. 8-5
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8.3 How Is The DNA In Eukaryotic Cells Organized?
Chromosomes with the same genes are called homologous chromosomes, or homologues.
Cells with pairs of homologous chromosomes are called diploid.
Homologous chromosomes are usually not identical.• The same genes on homologous
chromosomes may be different due to mutations, changes in the sequence of nucleotides in the DNA.
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8.3 How Is The DNA In Eukaryotic Cells Organized?
Not all cells have paired chromosomes.
The ovaries and testes undergo a special kind of cell division, called meiotic cell division, to produce gametes (eggs and sperm).• Gametes contain only one member of each pair of
autosomes, plus one of the two sex chromosomes.
• Cells with half the number of each type of chromosome are called haploid cells.
• Fusion of two haploid cells at fertilization produces a diploid cell with the full complement of chromosomes.
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8.3 How Is The DNA In Eukaryotic Cells Organized?
The number of different types of chromosomes in a species is called the haploid number and is designated n.• In humans, n = 23.
Diploid cells contain 2n chromosomes.• Humans body cells contain 2n = 46 (2 x 23)
chromosomes.
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8.4 What Occurs During The Eukaryotic Cell Cycle?
The eukaryotic cell cycle is divided into two major phases: interphase
and cell division.
• During interphase, the cell acquires nutrients from its environment, grows, and duplicates its chromosomes.
• During cell division, one copy of each chromosome and half of the cytoplasm are parceled out into each of two daughter cells.
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cell growth
synthesis of DNA; chromosomes are duplicated
cell growth and differentiation
telophaseand
cytoki nesi s
anaphase
metaphase
prophase
mitotic cell
division
interphase
8.4 What Occurs During The Eukaryotic Cell Cycle?
The eukaryotic cell cycle
Fig. 8-7
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8.4 What Occurs During The Eukaryotic Cell Cycle?
There are two types of division in eukarytic
cells: mitotic cell division and meiotic cell division.• Mitotic cell division may be thought of as
ordinary cell division, such as occurs during development from a fertilized egg, during asexual reproduction, and in skin, liver, and the digestive tract every day.
• Meiotic cell division is a specialized type of cell division required for sexual reproduction.
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8.4 What Occurs During The Eukaryotic Cell Cycle?
Mitotic cell division• Mitotic cell division consists of nuclear division
(called mitosis) followed by cytoplasmic division (called cytokinesis) and the formation
of two daughter cells.
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8.4 What Occurs During The Eukaryotic Cell Cycle?
Meiotic cell division• Is a prerequisite for sexual reproduction in all
eukaryotic organisms.• Meiotic cell division involves a specialized
nuclear division called meiosis.• It involves two rounds of cytokinesis,
producing four daughter cells that can become gametes.
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haploid
diploid
meiotic cell division in testes
meiotic cell division in ovaries
adults
eggfertilized egg
fusion of gametes
sperm
embryo
baby
mitotic cell division, differentiation, and growth
mitotic cell division, differentiation, and growth
mitotic cell division, differentiation, and growth
8.4 The Eukaryotic Cell Cycle
The life cycle of eukaryotic organisms include both mitotic and meiotic cell division.
Fig. 8-8
Flash
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8.5 How Does Mitotic Cell Division Produce Genetically Identical Daughter Cells?
Mitosis is divided into four phases.• Prophase• Metaphase• Anaphase• Telophase
Flash
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nuclear envelope chromatin
nucleolus
centriole pairs
beginning of spindle formation
kinetochore
spindle pole
spindle polecondensing chromosomes
spindle microtubules
Late InterphaseDuplicated chromosomes are in the relaxed uncondensed state; duplicated centrioles remain clustered.
Early ProphaseChromosomes condense and shorten; spindle microtubules begin to form between separating centriole pairs.
Late Prophase Thenucleolus disappears; the nuclear envelope breaks down; spindle microtubules attach to the kinetochore of each sister chromatid.
MetaphaseKinetochores interact; spindle microtubules line up the chromosomes at the cell’s equator.
(a) (b) (c) (d)
8.5 How Does Mitotic Cell Division Produce Genetically Identical Daughter Cells?
Interphase, prophase, and metaphase
Fig. 8-9a–d
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chromosomes extending nuclear envelope
re-forming
Anaphase Sisterchromatids separate and move to opposite poles of the cell; spindle microtubules that are not attached to the chromosomes push the poles apart.
Telophase One set ofchromosomes reaches each pole and relaxes into the extended state; nuclear envelopes start to form around each set; spindle microtubles begin to disappear.
CytokinesisThe cell divides in two; each daughter cell receives one nucleus and about half of the cytoplasm.
Interphase of daughter cells Spindlesdisappear, intact nuclear envelopes form, chromosomes extend completely, and the nucleolus reappears.
unattached spindle microtubules
(e) (f) (g) (h)
8.5 How Does Mitotic Cell Division Produce Genetically Identical Daughter Cells?
Anaphase, telophase, cytokinesis, and interphase
Fig. 8-9e–h
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8.5 How Does Mitotic Cell Division Produce Genetically Identical Daughter Cells?
Three major events happen in prophase:• The duplicated chromosomes condense.• The spindle microtubules form and attach to the
kinetochore
of the chromatids.• The chromosomes migrate with the spindle poles to
opposite sides of the nucleus.
Fig. 8-9b–c
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8.5 How Does Mitotic Cell Division Produce Genetically Identical Daughter Cells?
During metaphase, the chromosomes line up along the equator of the cell.• At this phase, the spindle apparatus lines up
the sister chromatids
at the equator, with one kinetochore
facing each cell pole.
Fig. 8-9d
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8.5 How Does Mitotic Cell Division Produce Genetically Identical Daughter Cells?
During anaphase, sister chromatids
separate and
move to opposite poles of the cell.• Sister chromatids
separate, becoming independent daughter chromosomes.
• The kinetochores
pull the chromosomes poleward
along the
spindle microtubules.
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8.5 How Does Mitotic Cell Division Produce Genetically Identical Daughter Cells?
During telophase, nuclear envelopes form around both groups of chromosomes.• Telophase
begins when
the chromosomes reach the poles.
• The spindle microtubules disintegrate and the nuclear envelop forms around each group of chromosomes.
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8.5 How Does Mitotic Cell Division Produce Genetically Identical Daughter Cells?
During Telophase
cytokinesis
occurs splitting the
cytoplasm between the two daughter cells ending mitosis and beginning Interphase.
Fig. 8-10
Scanning electron micrograph of cytokinesis.
Microfilaments contract, pinching the cell in two
The microfilament ring contracts, pinching in the cell’s “waist.”
The waist completely pinches off, forming two daughter cells
Microfilaments form a ring around the cell’s equator.
(b)(a)
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8.5 How Does Mitotic Cell Division Produce Genetically Identical Daughter Cells?
Cytokinesis
in plant cells has an additional
step.
Fig. 8-11
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8.6 How Does Meiotic Cell Division Produce Haploid Cells?
Meiosis is the production of haploid cells with unpaired chromosomes derived from diploid parent cells with paired chromosomes.
Meiosis includes two nuclear divisions, known as meiosis I and meiosis II.• In meiosis I, homologous chromosomes pair
up, but sister chromatids
remain connected to each other.
• In meiosis II, chromosomes behave as they do in mitosis—sister chromatids
separate and are
pulled to opposite poles of the cell. Flash
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8.6 How Does Meiotic Cell Division Produce Haploid Cells?
Fig. 8-12a–d
paired homologous chromosomes
recombined chromatids
spindle microtubule
kinetochoreschiasma
(a) (b) (c) (d)Prophase I Duplicated chromosomes condense. Homologous chromosomes pair up and chiasmata occur as chromatids of homologues exchange parts by crossing over. The nuclear envelope disintegrates, and spindle microtubules form.
Metaphase IPaired homologous chromosomes line up along the equator of the cell. One homologue of each pair faces each pole of the cell and attaches to the spindle microtubules via the kinetochore (blue).
Anaphase IHomologues separate, one member of each pair going to each pole of the cell. Sister chromatids do not separate.
Telophase ISpindle microtubules disappear. Two clusters of chromosomes have formed, each containing one member of each pair of homologues. The daughter nuclei are therefore haploid. Cytokinesis commonly occurs at this stage. There is little or no interphase between meiosis I and meiosis II.
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(e) (f) (g) (h) (i)Prophase IIIf the chromosomes have relaxed after telophase I, they recondense. Spindle microtubules re-form and attach to the sister chromatids.
Metaphase IIThe chromosomes line up along the equator, with sister chromatids of each chromosome attached to spindle microtubules that lead to opposite poles.
Anaphase IIThe chromatids separate into independent daughter chromosomes, one former chromatid moving toward each pole.
Telophase IIThe chromosomes finish moving to opposite poles. Nuclear envelopes re-form, and the chromosomes become extended again (not shown here).
Four haploid cellsCytokinesis results in four haploid cells, each containing one member of each pair of homologous chromosomes (shown here in the condensed state).
8.6 How Does Meiotic Cell Division Produce Haploid Cells?
Fig. 8-12e–i
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8.6 How Does Meiotic Cell Division Produce Haploid Cells?
Flash
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8.7 How Do Meiotic Cell Division And Sexual Reproduction Produce Genetic Variability?
Ways to produce genetic variability from meiotic cell division and sexual reproduction• Shuffling of homologues• Crossing over• Fusion of gametes
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The four possible chromosome arrangements at metaphase of meiosis I
The eight possible sets of chromosomes after meiosis I
(a)
(b)
8.7 Meiotic Cell Division And Sexual Reproduction Produce Genetic Variability
Shuffling of homologues creates novel combinations of chromosomes during meiosis producing genetic variability.
Fig. 8-13
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8.7 Meiotic Cell Division And Sexual Reproduction Produce Genetic Variability
Crossing over creates chromosomes with novel combinations of genetic material.
Fig. 8-14
pair of homologous duplicated chromosomes
sister chromatids of one duplicated homologue
chiasmata (sites of crossing over)
parts of chromosomes that have been exchanged between homologues
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8.7 How Do Meiotic Cell Division And Sexual Reproduction Produce Genetic Variability?
Fusion of gametes creates genetically variable offspring.• Because every egg and sperm are genetically
unique, and it is random as to which sperm fertilizes which egg, every fertilized egg is also genetically unique.
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9.1 What Is The Physical Basis Of Inheritance?
Inheritance occurs when genes are transmitted from parent to offspring.• The units of inheritance are genes.
Genes are segments of DNA at specific locations on chromosomes.• A gene’s physical location on a chromosome is
called its locus.• Each member of a pair of homologous
chromosomes carries the same genes, located at the same loci.
• Different versions of a gene at a given locus are called alleles.
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9.1 What Is The Physical Basis Of Inheritance?
The relationship among genes, alleles, and chromosomes
Fig. 9-1
Both chromosomes carry the same allele of the gene at this locus; the organism is homozygous at this locus
This locus contains another gene for which the organism is homozygous
Each chromosome carries a different allele of this gene, so the organism is heterozygous at this locus
a pair of homologous
chromosomes
gene loci
the chromosome from the male
parent
the chromosome from the female parent
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9.1 What Is The Physical Basis Of Inheritance?
Mutations are the source of alleles.• Differences in alleles at a given locus are due
to mutations at that gene.• If a mutation occurs in gametes, it can be
passed on from parent to offspring.
An organism’s two alleles may be the same or different.• A diploid organism has pairs of homologous
chromosomes with two copies of each gene at a given locus.
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9.1 What Is The Physical Basis Of Inheritance?
An organism’s two alleles may be the same or different (continued).• If both homologous chromosomes have the
same allele at a locus, the organism is said to be homozygous.
• If two homologous chromosomes have different alleles at a locus, the organism is heterozygous at that locus.
• The gametes of a homozygous individual are all the same at a particular locus, while gametes of a heterozygous individual would contain half one allele and half the other allele.
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9.3 How Are Single Traits Inherited?
True-breeding traits of organisms, such as purple flower color, are always inherited by all of their offspring that result from self-
fertilization.• In one experiment, Mendel cross-fertilized
white-flowered plants with purple-flowered plants.
• When he grew the resulting seeds, he found all the first-generation offspring, or the F1
generation, produced purple flowers.• What happened to the white color?
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9.3 How Are Single Traits Inherited?
The F2
generation • Next, Mendel allowed the F1
flowers to self- fertilize, collected the seeds, and grew the
second generation, called the F2
generation.• Flowers in the F2
generation were three- fourths purple and one-fourth white, in a ratio
of 3 purple to 1 white.• This showed that the gene for white flowers
was “hidden” in the F1
generation, but appeared again in the F2
generation.
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First- generation offspring (F1 )
3/4 purple 1/4 white
Second- generationoffspring (F2 )
self-fertilize
9.3 How Are Single Traits Inherited?
Cross of F1
plants with purple flowers
Fig. 9-5
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9.3 How Are Single Traits Inherited?
All the white-flowered plants in the F2
generation only produced additional white- flowered plants.
Purple-flowered plants were of two types:• About ⅔ were true-breeding for purple, while ⅔ produced both purple-
and white-flowered
offspring (ratio 3 purple/1 white).• Therefore, the F2
generation included ¼ true- breeding purple plants, ½ hybrid purple, and
¼ true-breeding white plants.
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9.3 How Are Single Traits Inherited?
This allows us to develop a five-part hypothesis to explain the inheritance of single traits.
1.
Each trait is determined by pairs of distinct physical units called genes.
• There are two alleles for each gene, one on each homologous chromosome.
2.
When two different alleles are present in an organism, the dominant allele may mask the expression of the recessive allele; but the recessive allele is still present.
3.
The two alleles of a gene segregate (separate) from one another during meiosis (Mendel’s law of segregation).
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9.3 How Are Single Traits Inherited?
4.
Which allele ends up in any given gamete is determined by chance.
5.
True-breeding (homozygous) organisms have two copies of the same allele for a given gene; hybrid (heterozygous) organisms have two different alleles for a given gene.
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homozygous parent
Gametes produced by a homozygous parent
Gametes produced by a heterozygous parent
gametes
heterozygous parent gametes
A A AA
A a aA
(a)
(b)
9.3 How Are Single Traits Inherited?
The distribution of alleles in gametes
Fig. 9-6
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9.3 How Are Single Traits Inherited?
Mendel’s hypothesis was that two plants may look alike (phenotype) but have a different allele composition (genotype).
Purple pea plants had PP or Pp genotypes, but their phenotype (purple color) was the same.
The F2
generation could be described as having three genotypes (¼ PP, ½ Pp, and ¼ pp) and two phenotypes (¾ purple and ¼ white).
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9.3 How Are Single Traits Inherited?
The Punnett square method
Fig. 9-8
PP
pp
Pp
eggs
self-fertilizePp
12
12
12
414
4 4
12
pP
1
1 1
P p
P
p
sper
m
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9.3 How Are Single Traits Inherited?
Mendel predicted the outcome of cross-fertilizing Pp plants with homozygous recessive plants (pp)—there should be equal numbers of Pp (purple) and pp (white) offspring.
Fig. 9-9
pollen
all sperm
pp
Pp
PP or Pp
if PP if Pp
eggs eggs
sperm unknown
12
12
12
12
all Pp
pp all eggs
sper
m
p
pp
p
PP
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9.4 How Are Multiple Traits Inherited?
Mendel next crossed pea plants that differed in two traits, such as seed color (yellow or green) and seed shape (smooth or wrinkled).• He knew from previous crosses that smooth
and yellow were both dominant traits in peas.• His first cross was a true-breeding plant with
smooth, yellow seeds (SSYY) to a true- breeding plant with wrinkled, green seeds
(ssyy).
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9.4 How Are Multiple Traits Inherited?
All the offspring of this cross (F1
generation) were SsYy and had smooth, yellow seeds (both dominant traits).
F1
plants were allowed to self-fertilize and produced F2
offspring in the phenotypic ratio 9:3:3:1.
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9.4 How Are Multiple Traits Inherited?
Mendel concluded that multiple traits are inherited independently.• Mendel realized that these results could be
explained if the genes for seed color and seed shape were inherited independently.
• The independent inheritance of two or more distinct traits is called the law of independent assortment.
• Multiple traits are inherited independently because the alleles of one gene are distributed to gametes independently of the alleles of other genes.
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9.4 How Are Multiple Traits Inherited?
Predicting genotypes and phenotypes
Fig. 9-11
14
14
14
14
14
14
14
116
116
116
116
116
116
116
116
116
116
116
116
116
116
116
116
SSYY SsYY
ssYY
ssyY
SsyY
SSYy SsYy
SsYy
ssYy
ssyy
SsyySSyy
sSyY sSyy
sSYY sSYy
SSyY
eggs
self-fertilize
14
sper
m
SY
SY
Sy
Sy
sY
sY
sy
sy
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9.4 How Are Multiple Traits Inherited?
Independent assortment of alleles
Fig. 9-12
independent assortment produces four equally likely allele combinations during meiosis
pairs of alleles on homologous chromosomes in diploid cells
chromosomes replicate
replicated homologues pair during metaphase of meiosis I, orienting like this
or like this
meiosis II
meiosis I
SY sYsy Sy
S
S
S
S
S
S
SS
S
s
s
s
s s
s
s
s s
ss
Y
Y
Y
Y
Y
S
Y
Y
Y
Y
Y Y
y
y
y
y
y
y
y
y y y
S
y
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9.5 How Are Genes Located on the Same Chromosome Inherited?
Genetic linkage is the inheritance of genes as a group because they are on the same chromosome.• Genes that are located on the same chromosome are
inherited together, rather than sorted independently.• In peas, the gene for flower color and the gene for
pollen shape occur on the same chromosome and are inherited together.
• Because the two genes are located on the same chromosomes, they tend to end up in gametes together, and are then expressed in the plants.
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9.5 How Are Genes Located on the Same Chromosome Inherited?
Crossing over can create new combinations of linked alleles.• Genes on the same chromosome do not always stay
together.• During prophase I of meiosis, homologous
chromosomes sometimes exchange parts in the process, called crossing over.
• Crossing over produces a new allele combination on both homologous chromosomes.
• Therefore, the chromosomes of each haploid daughter cell receives different combinations of alleles from those of the parent cell.
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9.6 How Is Sex Determined?
female offspring
eggs
male offspring
male parent
sper
m
X1
X2
Xm
Y
X1 X2
X1 X2
X1
Xm
XmX2
YY
Y
Xm
female parent
Offspring sex is determined sex chromosomes.• In mammals, females have two X
chromosomes and males have an X chromosome and a Y chromosome.
• Y chromosomes are much smaller than the X chromosomes.
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9.7 How Are Sex-Linked Genes Inherited?
Genes that are found on one sex chromosome but not on the other are called sex-linked.• Because females have two X chromosomes,
they can be either homozygous or heterozygous for genes on the X chromosome.
• Males only have one X chromosome, and therefore express all the alleles they have on their X chromosome.
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9.8 Do Mendelian Rules Of Inheritance Apply To All Traits?
When a heterozygous phenotype is intermediate between the two homozygous phenotypes, the pattern of inheritance is called incomplete dominance.• Human hair texture is influenced by a gene
with two incompletely dominant alleles, C1 and C2 .
• A person with two copies of the C1 allele has curly hair; two copies of the C2 allele produces straight hair; heterozygotes
with C1 C2
genotype have wavy hair.
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Two wavy-haired people could have the following children: ¼ curly (C1 C1 ), ½ wavy (C1 C2 ), and ¼ straight (C2 C2 ).
9.8 Do Mendelian Rules Of Inheritance Apply To All Traits?
Fig. 9-17
eggs
C1 C2
mother
father
C1 C2
C1 C2 C2 C2
C1 C1 C1 C2
sper
m
C1 C2
C1
C2
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9.8 Do Mendelian Rules Of Inheritance Apply To All Traits?
A single gene may have multiple alleles.• A single individual can have only two alleles
for any gene, one on each homologous chromosomes.
• However, within all the members of a species there could be dozens of alleles for every gene.
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9.8 Do Mendelian Rules Of Inheritance Apply To All Traits?
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9.8 Do Mendelian Rules Of Inheritance Apply To All Traits?
A single trait may be influenced by several genes.• Many physical traits are governed not by
single genes, but by interactions among two or more genes, a phenomenon called polygenic inheritance.
• The more genes that contribute to a single trait, the greater the number of phenotypes and the finer the distinctions among them.
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9.10 How Are Single-Gene Disorders Inherited?
Some human genetic disorders are caused by recessive alleles.• Many genes encode information to synthesize
enzymes or structural proteins in cells, and a defective allele in such a gene may cause damaged or inactive protein.
• In some cases, a defective gene may be masked when one normal allele is also present and makes enough functional protein.
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9.10 How Are Single-Gene Disorders Inherited?
Some human genetic disorders are caused by dominant alleles.• Many genetic diseases are caused by
dominant alleles, in which a single defective allele is enough to cause the disorder.
• For dominant diseases to be inherited, at least one parent must suffer from the disease but live long enough to have children.
• Some diseases, like Huntington disease, do not appear until after the affected person has reproduced.
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10.1 What Is The Structure Of DNA?
Individual traits of an organism are transmitted from parent to offspring in discrete units of DNA called genes.
Genes are located on chromosomes found within the nucleus of cells.
What makes all organisms different from each other is the arrangement and molecular composition of its genes.
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10.1 What Is The Structure Of DNA?
DNA is composed of four different subunits, called nucleotides.• Each nucleotide has three parts:
• A phosphate group• Deoxyribose, a 5 Carbon sugar• One of four different nitrogen-containing
bases• Thymine• Cytosine• Adenine• Guanine
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10.1 What Is The Structure Of DNA?
A DNA molecule contains two nucleotide strands.• A DNA molecule consists of two DNA strands
of linked nucleotides.• Within each strand, the phosphate group of
one nucleotide binds to the sugar group of the next nucleotide.
• The sugar-phosphate bonding produces a sugar-phosphate backbone to the DNA molecule.
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10.1 What Is The Structure Of DNA?
The Watson-Crick model of DNA structure
Fig. 10-2
free phosphate
phosphate
base (cytosine)
sugar
free sugar
Hydrogen bonds hold complementary base pairs together in DNA
Two DNA strands form a double helix
Four turns of a DNA double helix
nucleotide nucleotide
(a) (b) (c)
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10.1 What Is The Structure Of DNA?
Nucleotide rungs only result in specific pair combinations.• Adenine only pairs with Thymine.• Guanine only pairs with Cytosine.• This A–T and G–C coupling is called
complementary base pairing.
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10.3 How Is DNA Copied?
Cells reproduce themselves by making two daughter cells from each parental cell, each with a complete copy of all the parental cell’s genetic information.
During cell reproduction, the parental cell synthesizes two exact copies of its DNA through a process called DNA replication.
One copy goes into each daughter cell.
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10.3 How Is DNA Copied?
DNA replication produces two DNA double helices, each with one original strand and one new strand.• DNA replication requires three ingredients:
• The parental DNA strands• Free nucleotides that were synthesized in
the cytoplasm and then imported to the nucleus
• Enzymes that unwind the parental DNA double helix and synthesize the new DNA strands
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10.3 How Is DNA Copied?
DNA replication produces two DNA double helices, each with one original strand and one new strand (continued).• The first step involves enzymes called DNA helicases,
which pull apart the parental DNA double helix.• Next, enzymes called DNA polymerases move along
each separated parental DNA strand, matching each base on the strand with free nucleotides.
DNA replication keeps, or conserves, one parental DNA strand and produces one new daughter strand (semiconservative
replication).
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10.3 How Is DNA Copied?
The basic features of DNA replication
Fig. 10-3
free nucleotides
The parental DNA is unwound
New DNA strands are synthesized with bases complementary to the parental strands
Each new double helix is composed of one parental strand (blue) and one new strand (red)
Parental DNA double helix
1
2
4
3
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10.4 What Are The Mechanisms Of DNA Replication?
DNA helicase
separates the parental DNA strands
by breaking the hydrogen bonds between complementary bases. • This activity separates the two strands and forms a
replication bubble where the parental strands are no longer paired.
• Replication then proceeds.• There is a replication fork on each end of the bubble,
where replication is taking place and the original DNA strand is unzipping.
• The unzipping and replication continues in both directions until the new strands are completely formed.
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10.4 What Are The Mechanisms Of DNA Replication?
The mechanism of DNA replication, step (2)
Fig. 10-5(2)
replication forks
DNA helicase DNA helicase
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10.4 What Are The Mechanisms Of DNA Replication?
DNA polymerase synthesizes new DNA strands.• At the replication forks, DNA polymerase
recognizes unpaired nucleotide bases in the parental strand and matches them up with free nucleotides.
• It then links up the phosphate of the incoming nucleotide with the sugar of the previously added nucleotide, thereby contributing to the growing molecule backbone.
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10.4 What Are The Mechanisms Of DNA Replication?
DNA helicase
and DNA polymerase work
together to copy each strand of separated parental DNA.• Polymerase # 1 lands on one strand of DNA
and follows behind the helicase
toward the free phosphate end of the DNA, making a continuous new DNA strand.
• DNA polymerase # 2 on the other parental strand moves away from the helicase
and
makes only part of the new DNA strand.
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10.4 What Are The Mechanisms Of DNA Replication?
As the helicase
continues to unwind more of
the double helix, additional DNA polymerase (# 3, # 4, etc.) must land on this strand to synthesize more pieces of DNA.
Therefore, DNA synthesis on the second parental strand is discontinuous.
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10.4 What Are The Mechanisms Of DNA Replication?
The mechanism of DNA replication, step (4)
Fig. 10-5(4)
DNA polymerase #1 continues along the parental DNA strand
DNA polymerase #3
DNA polymerase #2 leaves
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10.4 What Are The Mechanisms Of DNA Replication?
Multiple DNA polymerases make many pieces of DNA of varying lengths that need to be tied together to form a single continuous DNA polymer.
DNA ligase
joins together the separate
segments of DNA.
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10.4 What Are The Mechanisms Of DNA Replication?
The mechanism of DNA replication, step (5)
Fig. 10-5(5)
DNA polymerase #4
DNA polymerase #3 leaves
DNA ligase joins the daughter DNA strands together
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10.4 What Are The Mechanisms Of DNA Replication?
Proofreading produces almost error-free replication of DNA.• DNA polymerase is almost 100% perfect in
matching free nucleotides with those on the original parental strands.
• Once in every 10,000 base pairs, there is an error in replication.
• Some types of DNA polymerase recognize errors when they are made and correct them.
• This keeps the total errors in a complete DNA molecule to one mistake in every billion base pairs.
Mistakes that remain in the DNA nucleotide sequence are called mutations.
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Types of Mutations
Point mutation -
individual nucleotide in the
DNA sequence is changed
Insertion mutation -
one or more nucleotide
pairs are inserted into the DNA double helix
Deletion mutation -
one or more nucleotide
pairs are removed from the double helix
Inversion -
piece of DNA is cut out of a
chromosome, turned around, and re-inserted into the gap
Translocation -
chunk of DNA (often very
large) is removed from one chromosome and attached to another
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11.1 How Is The Information In DNA Used In A Cell?
Most genes contain information for the synthesis of a single protein.• A gene is a stretch of DNA encoding the
instructions for the synthesis of a single protein.
• Proteins form cellular structures and the enzymes that catalyze cellular chemical reactions.
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11.1 How Is The Information In DNA Used In A Cell?
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11.1 How Is The Information In DNA Used In A Cell?
Protein synthesis occurs in two steps, called transcription and translation.
Translation of the mRNA produces a protein molecule with an amino acid sequence determined by the nucleotide sequence in the mRNA
Transcription of the gene produces anmRNA with a nucleotide sequence complementary to one of the DNA strands
DNA
messenger RNA
protein
ribosome
gene
Transcription
Translation
(cytoplasm)(nucleus)
(a)
(b)
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11.1 How Is The Information In DNA Used In A Cell?
Transcription: the information contained in the DNA of a specific gene is copied into one of three types of RNA
• Messenger RNA (mRNA)• Transfer RNA (tRNA)• Ribosomal RNA (rRNA)
In eukaryotic cells, transcription occurs in the nucleus.
Flash
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11.1 How Is The Information In DNA Used In A Cell?
Translation: ribosomes
convert the base
sequence in mRNA to the amino acid sequence of a protein• In eukaryotic cells, translation occurs in the
cytoplasm.
Flash
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11.2 What Are The Functions Of RNA?
Messenger RNA carries the code for a protein from the nucleus to the cytoplasm.• All RNA is produced by transcription from
DNA, but only mRNA carries the code for amino acid sequence of a protein.
• mRNA is synthesized in the nucleus and enters the cytoplasm through nuclear envelope pores.
• In the cytoplasm, mRNA binds to ribosomes, which synthesize a protein specified by the mRNA base sequence; DNA remains in the nucleus.
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11.2 What Are The Functions Of RNA?
Ribosomal RNA and proteins form ribosomes.• Each ribosome consists of two subunits—one small
and one large.• The small subunit has binding sites for mRNA, a
“start” tRNA, and other proteins that cooperate to read mRNA to start protein synthesis.
• The large subunit has two binding sites for tRNA molecules, and one catalytic site where peptide
bonds join amino acids together into a protein.• During protein synthesis, the two subunits come
together, clasping an mRNA molecule between them.
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11.2 What Are The Functions Of RNA?
Transfer RNA molecules carry amino acids to the ribosomes.• Each cell synthesizes many different kinds of
transfer RNA, one or more for each amino acid.
• Twenty different kinds of enzymes in the cytoplasm, one for each amino acid, recognize the rRNA
and attach the correct amino acid.
• These “loaded” tRNA
molecules deliver their amino acids to the ribosome, where they are incorporated into the growing protein chain.
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11.3 What Is The Genetic Code?
The genetic code translates the sequence of bases in nucleic acids into the sequence of amino acids in proteins.• A sequence of three bases codes for an
amino acid; the triplet is called a codon.• There are 64 possible combinations of
codons, which is more than enough to code for the 20 amino acids in proteins.
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11.3 What Is The Genetic Code?
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11.3 What Is The Genetic Code?
How does a cell recognize where codons start and stop, and where the code for an
entire proteins starts and stops?• Most codons
specify a specific amino acid in a
protein sequence, but others are punctuation marks that indicate the end of one protein sequence and the start of another.
• All proteins begin with the start codon
AUG (methionine), and all end with UAG, UAA, or UGA, called stop codons.
• Almost all amino acids are coded for by more than one codon
(e.g., six codons
code for
leucine).
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11.4 How Is The Information In A Gene Transcribed Into RNA?
Transcription copies the genetic information of DNA into RNA in the nucleus of eukaryotic cells.• Transcription is made up of three different
processes:• Initiation: the promotor
region at the
beginning of a gene starts transcription• Elongation: the main body of a gene is
where the RNA strand is elongated• Termination: the termination signal at end of
a gene is where RNA synthesis stops
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11.4 How Is The Information In A Gene Transcribed Into RNA?
Transcription begins when RNA polymerase binds to the promotor
of a gene.
• RNA polymerase catalyzes the transcription of DNA to RNA.
• RNA polymerase first finds the promoter region (a non-transcribed sequence of DNA bases) that marks the start of a gene, and then binds to it, opening up the DNA as it does.
• Transcription of the gene begins after the promoter is bound to RNA polymerase.
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11.4 How Is The Information In A Gene Transcribed Into RNA?
Elongation generates a growing strand of RNA.• RNA polymerase adds complementary bases
to those in the DNA template strand, to make a growing RNA strand that has uracil
rather
than thymine complementary to adenine.• The two strands of DNA re-form the original
double helix.• One end of the growing RNA strand drifts
away from the DNA molecule, while the other remains attached to the DNA template strand by the RNA polymerase.
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11.4 How Is The Information In A Gene Transcribed Into RNA?
Transcription stops when RNA polymerase reaches the termination signal.• RNA polymerase continues along the DNA
template strand until it comes to the termination signal (a specific sequence of DNA bases).
• At the termination signal, RNA polymerase drops off the DNA and releases the completed RNA molecule.
• The enzyme is ready to bind to another promoter, to start the process over.
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11.4 How Is The Information In A Gene Transcribed Into RNA?
Transcription is selective.• Some genes are transcribed in all cells
because they encode essential proteins, like the electron transport chain of mitochondria.
• Other genes are transcribed only in specific types of cells.
• Proteins bind to “control regions” near gene promotors
and block or enhance the binding of
RNA polymerase.• By this means, the amount of a specific
protein encoded by a specific gene in a cell can be controlled.
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11.5 How Is The Information In Messenger RNA Translated Into Protein?
mRNA, with a specific base sequence, is used during translation to direct the synthesis of a protein with the amino acid sequence encoded by the mRNA.• Decoding the base sequence of mRNA is the
job of tRNA
and ribosomes
in the cytoplasm.• The ability of tRNA
to deliver the correct
amino acid to the ribosomes
depends on base pairing between each codon
of mRNA and a
set of three complementary bases in tRNA, called the anticodon.
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11.5 How Is The Information In Messenger RNA Translated Into Protein?
Like transcription, translation has three steps:• Initiation of protein synthesis• Elongation of the protein chain• Termination of translation
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11.5 How Is The Information In Messenger RNA Translated Into Protein?
Initiation
Fig. 11-5(1,2,3)
tRNA anticodonfirst tRNA binding site
catalytic sitesecond tRNA binding site
mRNA
large ribosomal subunit
start codon
small ribosomal subunit
methionine tRNA
amino acid
initiation complex
The large ribosomal subunit binds to the small subunit. The methionine tRNA binds to the first tRNA site on the large subunit.
The initiation complex binds to an mRNA molecule. The methionine (met) tRNA anticodon (UAC) base-pairs with the start codon (AUG) of the mRNA.
A tRNA with an attached methionine amino acid binds to a small ribosomal subunit, forming an initiation complex.
Initiation:
metmet
C
A ACC G GG U U U
A
A
ACC G GG U U U
CAU
CAUU
met
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11.5 How Is The Information In Messenger RNA Translated Into Protein?
Elongation
Fig. 11-5(4,5,6)
peptide bond
initiator tRNA detaches
catalytic site
ribosome moves one codon to the rightThe second codon of mRNA
(GUU) base-pairs with the anticodon (CAA) of a second tRNA carrying the amino acid valine (val). This tRNA binds to the second tRNA site on the large subunit.
The “empty” tRNA is released and the ribosome moves down the mRNA, one codon to the right. The tRNA that is attached to the two amino acids is now in the first tRNA binding site and the second tRNA binding site is empty.
The catalytic site on the large subunit catalyzes the formation of a peptide bond linking the amino acids methionine and valine. The two amino acids are now attached to the tRNA in the second binding site.
Elongation:
AUA ACC G GG U U U A ACC G GG GU U U
C A A A ACAU
A ACC G GG U U U
C A ACAU C
metmet
valvalval
met
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11.5 How Is The Information In Messenger RNA Translated Into Protein?
Elongation (continued)
Fig. 11-5(7,8)
The catalytic site forms a peptide bond between valine and histidine, leaving the peptide attached to the tRNA in the second binding site. The tRNA in the first site leaves, and the ribosome moves one codon over on the mRNA.
The third codon of mRNA (CAU) base-pairs with the anticodon (GUA) of a tRNA carrying the amino acid histidine (his). This tRNA enters the second tRNA binding site on the large subunit.
G AUA A
A
CC G G
G
GU U
U
U
C A A
AUA A
A
CC G G G
G
G U U
U
U
C A A
met
valval
met
hishis
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11.5 How Is The Information In Messenger RNA Translated Into Protein?
Termination
Fig. 11-5(9)
stop codon
completed peptide
This process repeats until a stop codon is reached; the mRNA and the completed peptide are released from the ribosome, and the subunits separate.
Termination:
AUGAC A UG AA C Um
etva
l
hisarg
argile
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11.5 How Is The Information In Messenger RNA Translated Into Protein?
Summing up: transcription and translation• With a few exceptions, each gene codes for a
single protein.• Transcription of a protein-coding gene
produces an mRNA that is complementary to the template strand of the DNA for the gene.
• Enzymes in the cytoplasm attach the appropriate amino acid to each tRNA.
• The mRNA moves from the nucleus to the cytoplasm.
• tRNAs
carry their attached amino acids to the ribosome.
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11.5 How Is The Information In Messenger RNA Translated Into Protein?
Summing up: transcription and translation (continued)• At the ribosome, the bases in tRNA
anticodons
bind to the complementary bases in mRNA codons.
• The amino acids attached to the tRNAs
line up in the sequence specified by the codons.
• The ribosome joins the amino acids together with peptide bonds to form a protein.
• When a stop codon
is reached, the finished protein is released from the ribosome.
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11.5 How Is The Information In Messenger RNA Translated Into Protein?
Complementary base pairing is critical to decoding genetic information.
Fig. 11-6
template DNA strand
complementary DNA strand
gene
codons
anticodons
amino acids
etc.
etc.
etc.
etc.methionine glycine valine
DNA
mRNA
tRNA
protein
etc.(a)
(b)
(c)
(d)
A U G G G A G U U
U A C C C U C A A
T A C C C T C A A
A T G G G A G T T
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11.6 How Do Mutations Affect Gene Function?
Mutations are the raw material for evolution.• Mutations are the ultimate source of all genetic
differences among individuals.• Without mutations, individuals would share the same
DNA sequence.• Most mutations are harmful; some improve the
individual’s ability to survive and reproduce.• The mutation may be passed from generation to
generation and become more common over time.• This process is known as natural selection, and is the
major cause of evolutionary change.
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11.7 Are All Genes Expressed?
All of the genes in the human genome are present in each body cell, but individual cells express only a small fraction of them.• The particular set of genes that is expressed
depends on the type of cell and the needs of the organism.
• This regulation of gene expression is crucial for proper functioning of individual cells and entire organisms.
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11.7 Are All Genes Expressed?
Gene expression differs from cell to cell and over time.• The set of genes that are expressed depends
on the function of a particular cell.• Hair cells synthesize the protein keratin, while
muscle cells make the proteins actin
and myosin but do not make keratin.
• A human male does not express a casein gene, the protein in human milk, but will pass on the gene for casein synthesis to his daughter, who will express it if she bears children.
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11.7 Are All Genes Expressed?
Environmental cues influence gene expression.• Changes in an organism’s environment help
determine which genes are transcribed.• Longer spring days stimulate the sex organs
of birds to enlarge and produce sex hormones.
• These hormones cause the birds to produce eggs and sperm, to mate, and to build nests.
• All these changes result directly or indirectly from alterations in gene expression.
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11.8 How Is Gene Expression Regulated?
A cell may regulate gene expression in many different ways.• It may alter the rate of transcription of mRNA.• It may affect how long a given mRNA
molecule lasts before being broken down.• It may affect how fast the mRNA is translated
into protein.• It may affect how long the protein lasts, or how
fast a protein enzyme catalyzes a reaction.
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11.8 How Is Gene Expression Regulated?
Regulatory proteins that bind to promoters alter the transcription of genes.• Many steroid hormones act in this way.• In birds, estrogen enters cells of the female
reproductive system and binds to a receptor protein during the breeding season.
• The estrogen–receptor combination then binds to the DNA in a region near the promotor
of an albumen gene.
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11.8 How Is Gene Expression Regulated?
Regulatory proteins that bind to promoters alter the transcription of genes (continued).• This attachment makes it easier for RNA
polymerase to bind to the promotor
and to transcribe large amounts of albumen mRNA, which is translated into the albumin protein needed to make eggs.
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11.8 How Is Gene Expression Regulated?
Some regions of chromosomes are condensed and not normally transcribed.• Certain parts of eukaryotic chromosomes are
in a highly condensed, compact state in which most of the DNA is inaccessible to RNA polymerase.
• Some of these tightly condensed regions may contain genes that are not currently being transcribed, but when those genes are needed, the portion of the chromosome containing those genes becomes “decondensed” so that transcription can occur.
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11.8 How Is Gene Expression Regulated?
Entire chromosomes may be inactivated and not transcribed.• In some cases, almost an entire chromosome
may be condensed, making it largely inaccessible to RNA polymerase.
• In human females, one of their two X chromosomes may become inactivated by a special coating of RNA called Xist, which condenses the chromosome and prevents gene transcription.