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• Overview: Drawing from the Deck of Genes • An alternative to the blending model is the
“particulate” hypothesis of inheritance: the
• What genetic principles account for the gene idea
transmission of traits from parents to offspring?
– Parents pass on discrete heritable units, genes
GENETIKA
• One possible explanation of heredity is a
“blending” hypothesis
– The idea that genetic material contributed by
two parents mixes in a manner analogous to
the way blue and yellow paints blend to make
green
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Figure 14.1
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TECHNIQUE
RESULTS When pollen from a white flower fertilizes 5 Examined
eggs of a purple flower, the first-generation hybrids all have purple offspring:
flowers. The result is the same for the reciprocal cross, the transfer First
all purple
of pollen from purple flowers to white flowers. generation
flowers
offspring
(F1)
Figure 14.2
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1
The Law of Segregation
• In a typical breeding experiment • The hybrid offspring of the P generation • When Mendel crossed contrasting, true-
breeding white and purple flowered pea plants
– Mendel mated two contrasting, true-breeding – Are called the F1 generation
varieties, a process called hybridization – All of the offspring were purple
• When F1 individuals self-pollinate
• The true-breeding parents • When Mendel crossed the F1 plants
– The F2 generation is produced
– Are called the P generation – Many of the plants had purple flowers, but
some had white flowers
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• Mendel discovered • Mendel reasoned that • Mendel observed the same pattern
– A ratio of about three to one, purple to white flowers, – In the F1 plants, only the purple flower factor – In many other pea plant characters
in the F2 generation was affecting flower color in these hybrids
EXPERIMENT True-breeding purple-flowered pea plants and
white-flowered pea plants were crossed (symbolized by ). The P Generation
resulting F1 hybrids were allowed to self-pollinate or were cross-
pollinated with other F1 hybrids. Flower color was then observed (true-breeding
– Purple flower color was dominant, and white
in the F2 generation. parents) Purple
flowers
White
flowers flower color was recessive
F1 Generation
(hybrids)
Mendel’s Model
• Mendel developed a hypothesis • First, alternative versions of genes • Second, for each character
– To explain the 3:1 inheritance pattern that he – Account for variations in inherited characters, – An organism inherits two alleles, one from
observed among the F2 offspring which are now called alleles each parent
• Four related concepts make up this model Allele for purple flowers – A genetic locus is actually represented twice
Homologous
Locus for flower-color gene pair of
chromosomes
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2
• Third, if the two alleles at a locus differ • Fourth, the law of segregation • Does Mendel’s segregation model account for
the 3:1 ratio he observed in the F2 generation
– Then one, the dominant allele, determines the – The two alleles for a heritable character
of his numerous crosses?
organism’s appearance separate (segregate) during gamete formation
and end up in different gametes – We can answer this question using a Punnett
– The other allele, the recessive allele, has no
square
noticeable effect on the organism’s
appearance
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F1 sperm
This box, a Punnett square, shows
all possible combinations of alleles
in offspring that result from an
P p – Has a pair of alleles that are different for that
F1 F1 (Pp Pp) cross. Each square F2 Generation
represents an equally probable product
of fertilization. For example, the bottom
P
PP Pp
gene
left box shows the genetic combination F1 eggs
resulting from a p egg fertilized by
a P sperm. p
Pp pp
Random combination of the gametes
results in the 3:1 ratio that Mendel
observed in the F2 generation. 3 :1
Figure 14.5
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The Testcross
• Phenotype versus genotype • In pea plants with purple flowers • A testcross
Phenotype Genotype
Purple
– The genotype is not immediately obvious – Allows us to determine the genotype of an
PP
(homozygous)
1
organism with the dominant phenotype, but
unknown genotype
Pp
3 Purple (heterozygous) – Crosses an individual with the dominant
2
phenotype with an individual that is
Pp homozygous recessive for a trait
(heterozygous)
Purple
pp
1 White 1
(homozygous)
3
The Law of Independent Assortment
• The testcross • Mendel derived the law of segregation • Mendel identified his second law of inheritance
APPLICATION An organism that exhibits a dominant trait,
such as purple flowers in pea plants, can be either homozygous for – By following a single trait – By following two characters at the same time
the dominant allele or heterozygous. To determine the organism’s
genotype, geneticists can perform a testcross.
Dominant phenotype,
unknown genotype:
Recessive phenotype,
known genotype:
• The F1 offspring produced in this cross • Crossing two, true-breeding parents differing in
TECHNIQUE In a testcross, the individual with the
unknown genotype is crossed with a homozygous individual
PP or Pp? pp
two characters
expressing the recessive trait (white flowers in this example).
By observing the phenotypes of the offspring resulting from this
– Were monohybrids, heterozygous for one
cross, we can deduce the genotype of the purple-flowered
parent.
If PP, If Pp, character – Produces dihybrids in the F1 generation,
then all offspring then 1⁄2 offspring purple
purple: and 1⁄2 offspring white: heterozygous for both characters
p p p p
RESULTS
P P
Pp Pp Pp Pp
P p
Pp Pp pp pp
Figure 14.7
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• How are two characters transmitted from • A dihybrid cross • Using the information from a dihybrid cross,
parents to offspring? Mendel developed the law of independent
– Illustrates the inheritance of two characters
assortment
– As a package?
• Produces four phenotypes in the F2 generation – Each pair of alleles segregates independently
– Independently? EXPERIMENT Two true-breeding pea plants—
one with yellow-round seeds and the other with
green-wrinkled seeds—were crossed, producing
P Generation YYRR
Gametes YR yr
yyrr
during gamete formation
dihybrid F1 plants. Self-pollination of the F1 dihybrids,
which are heterozygous for both characters,
produced the F2 generation. The two hypotheses F1 Generation YyRr
predict different phenotypic ratios. Note that yellow Hypothesis of Hypothesis of
dependent independent
color (Y) and round shape (R) are dominant. assortment assortment
Sperm
1⁄ 1⁄ Yr 1⁄ 1⁄
4 YR 4 4 yR 4 yr
Sperm
Eggs
RESULTS 1⁄
2 YR
1⁄
2 yr
1⁄
4 YR
Eggs YYRR YYRr YyRR YyRr
1⁄
F2 Generation 2 YR
YYRR YyRr 1⁄
Yr
(predicted 4
YYrr YYrr YyRr Yyrr
offspring) 1⁄ yr
CONCLUSION The results support the hypothesis of 2
YyRr yyrr 1⁄
4 yR
independent assortment. The alleles for seed color and seed 3⁄
YyRR YyRr yyRR yyRr
1⁄
4
shape sort into gametes independently of each other. 4
1⁄
4 yr
Phenotypic ratio 3:1 YyRr Yyrr yyRr yyrr
9⁄ 3⁄ 3⁄ 1⁄
16 16 16 16
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4
Extending Mendelian Genetics for a Single Gene The Spectrum of Dominance
• The inheritance of characters by a single gene • Complete dominance • In incomplete dominance
– May deviate from simple Mendelian patterns – Occurs when the phenotypes of the – The phenotype of F1 hybrids is somewhere between
heterozygote and dominant homozygote are the phenotypes of the two parental varieties
identical P Generation
Red
White
CW CW
CRCR
• In codominance Gametes CR CW
– Is an example of codominance 1⁄
2 CR
CR CR CR CW
1⁄
2 Cw
CR CW CW CW
Figure 14.10
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• The Relation Between Dominance and • Frequency of Dominant Alleles Morgan Provided Evidence for the Linkage of
Phenotype Several X-linked Genes
• Dominant alleles
• Dominant and recessive alleles • The first direct evidence of linkage came from
– Are not necessarily more common in studies of Thomas Hunt Morgan
– Do not really “interact” populations than recessive alleles
• Morgan investigated several traits that followed an
– Lead to synthesis of different proteins that X-linked pattern of inheritance
produce a phenotype
• Figure illustrates an experiment involving three
traits
Body color
Eye color
Wing length
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P Males
Morgan Provided Evidence for the Linkage of
Several X-linked Genes
P Females
– 1. Why did the F2 generation have a significant
number of nonparental combinations?
• Morgan observed a much higher proportion of the
combinations of traits found in the parental generation – 2. Why was there a quantitative difference
Morgan’s explanation: between the various nonparental
All three genes are located on the X chromosome
combinations?
Therefore, they tend to be transmitted together as a unit
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Let’s reorganize Morgan’s data by considering the pairs of The Chemical Nature of Polynucleotides
genes separately
• Watson and Crick deduced that DNA was a
• Biochemists determined the components of
Gray body, red eyes 1,159 double helix nucleotides during the 1940s
Yellow body, white eyes 1,017
– Through observations of the X-ray • The component parts of DNA
Gray body, white eyes 17
crystallographic images of DNA – Nitrogenous bases:
Yellow body, red eyes 12 G C
But this nonparental
Total 2,205 combination was rare
A
T A
T
• Adenine (A)
1 nm
C G
G C
3.4 nm
• Cytosine (C)
Red eyes, normal wings 770 A
Guanine (G)
T
C G •
White eyes, miniature wings 716 It was fairly common
to get this nonparental T A • Thymine (T)
Red eyes, miniature wings 401 combination
T A
A
T
T – Phosphoric acid
Total 2,205 A
G
T
C
0.34 nm
– Deoxyribose sugar
Figure 16.7a, c (a) Key features of DNA structure (c) Space-filling model
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• RNA component parts • Nucleotides are nucleosides with a phosphate • Adenine and guanine are related structurally to
– Nitrogenous bases group attached through a phosphodiester bond the parent molecule purine
• Like DNA except Uracil
(U) replaces Thymine • Nucleotides may contain one, two, or even three • Cytosine, thymine and uracil resemble
– Phosphoric acid phosphate groups linked in a chain pyrimidine
– Ribose sugar
• Bases use ordinary numbers
• Carbons in sugars are noted
as primed numbers
• Nucleotides contain
phosphoric acid
• Nucleosides lack the
phosphoric acid
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DNA Helix
• Structure compared to a • Franklin had concluded that DNA 5 end
twisted ladder O
P
OH
Hydrogen bond
O
H2C O
backbone G C O
O O CH2
O
– There are about 10 base with thymine, and cytosine with guanine –O
P
O
O
P
O–
O CH2
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6
Elongating a New DNA Strand
• DNA replication is semiconservative • Elongation of new DNA at a replication fork • DNA polymerases add nucleotides
– Each of the two new daughter molecules will – Is catalyzed by enzymes called DNA – Only to the free 3end of a growing strand
have one old strand, derived from the parent polymerases, which add nucleotides to the 3
molecule, and one newly made strand end of a growing strand • Along one template strand of DNA, the leading
First Second
(a) Conservative
Parent cell replication replication
(b) Semiconservative
C G C G
complementary strand continuously, moving
model. The two
strands of the
parental molecule
separate, G C G C
toward the replication fork
and each functions
as a template
for synthesis of
a new, comple-
mentary strand. A T A
(c) Dispersive
model. Each P P OH
strand of both
daughter mol- C Pyrophosphate 3 end C
ecules contains OH
a mixture of
old and newly 2 P
synthesized Nucleoside
DNA.
Figure 16.13 triphosphate 5 end 5 end
Figure 16.10 a–c
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3 Okazaki
fragments
3 The other new strand, the • The initial nucleotide strand
lagging strand must grow in an overall
• The lagging strand 2
1 3
3 5 direction by addition of short
segments, Okazaki fragments, that grow
5
5 3 (numbered here in the order – Is an RNA or DNA primer
DNA pol III they were made).
– Is synthesized as a series of segments called
Template
Okazaki fragments, which are then joined strand
Template
strand DNA ligase
Figure 16.14 Overall direction of replication
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5 3
5
• Helicase, topoisomerase, single-strand binding
leading strand Template
strand 2 DNA pol III adds DNA nucleotides to the
primer, forming an Okazaki fragment.
protein
3 RNA primer 3 5
1
– But for synthesis of the lagging strand, each 3 After reaching the next
5
– Are all proteins that assist DNA replication
RNA primer (not shown),
Okazaki fragment must be primed separately DNA pol III falls off.
3
Okazaki
fragment
3
5
1
5
4 After the second fragment is
primed. DNA pol III adds DNA
nucleotides until it reaches the
first primer and falls off. 5
3
3 2
1
5
7
• A summary of DNA replication • In prokaryotes • In eukaryotes
Overall direction of replication Lagging
Leading
1 Helicase unwinds the strand Origin of replication strand
parental double helix. – Transcription and translation occur together – RNA transcripts are modified before becoming
2 Molecules of single-
strand binding protein
3 The leading strand is
synthesized continuously in the
true mRNA
stabilize the unwound 5 3 direction by DNA pol III. Lagging Leading
template strands. Nuclear
strand OVERVIEW strand
DNA pol III envelope
Leading DNA
TRANSCRIPTION
strand
TRANSCRIPTION DNA
mRNA
5 Replication fork
DNA pol I DNA ligase Ribosome
3 Pre-mRNA
Primase 2 TRANSLATION RNA PROCESSING
Parental DNA DNA pol III Lagging 1
Primer strand 3
4 Primase begins synthesis mRNA
3 5 Polypeptide
of RNA primer for fifth 4
Okazaki fragment.
Ribosome
5 DNA pol III is completing synthesis of 6 DNA pol I removes the primer from the 5 end 7 DNA ligase bonds (a) Prokaryotic cell. In a cell lacking a nucleus, mRNA
the fourth fragment, when it reaches the TRANSLATION
of the second fragment, replacing it with DNA the 3 end of the produced by transcription is immediately translated (b) Eukaryotic cell. The nucleus provides a separate
RNA primer on the third fragment, it will nucleotides that it adds one by one to the 3 end second fragment to Polypeptide
without additional processing. compartment for transcription. The original RNA
dissociate, move to the replication fork, of the third fragment. The replacement of the the 5 end of the first transcript, called pre-mRNA, is processed in various
and add DNA nucleotides to the 3 end last RNA nucleotide with DNA leaves the sugar- fragment. ways before leaving the nucleus as mRNA.
of the fifth fragment primer. phosphate backbone with a free 3 end. Figure 17.3b
Figure 16.16 Figure 17.3a
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RNA nucleotides – Elongation the promoter, the DNA strands unwind, and
the polymerase initiates RNA synthesis at the
start point on the template strand.
DNA Gene 2 5 3
molecule
Gene 1 – Follows the same base-pairing rules as DNA, – Termination Unwound
3
RNA
Template strand of
DNA
5
DNA strand 3
A C C A A A C C G A G T
5 thymine Rewound
RNA
transcription, the DNA strands re-form a double helix.
(template) 5 3
3 3 5
5
TRANSCRIPTION RNA
transcript
U G G U U U G G C U C A 3 Termination. Eventually, the RNA
mRNA 5 3 transcript is released, and the
Codon polymerase detaches from the DNA.
TRANSLATION
5 3
3 5
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RNA
• Transcription factors TRANSCRIPTION DNA
mRNA
Ribosome
polymerase TRANSLATION
Polypeptide
TRANSLATION Ribosome
Polypeptide
U Promoter tRNA with
5 3
3
T A T A A AA
AT A T T T T
5 amino acid
A E G C A TATA box Start point Template
5 DNA strand Ribosome attached
2 Several transcription
factors
T A G G T
T Transcription
factors Gly
5 3
3 5
3 Additional transcription
Direction of transcription factors
tRNA
5 Template
(“downstream”)
strand of DNA
Anticodon
A A A
RNA polymerase II U G G U U U G G C
Transcription factors
8
The Structure and Function of Transfer RNA Cracking the Code
• A tRNA molecule • A codon in messenger RNA
Amino end Growing polypeptide
– Consists of a single RNA strand CAthat is only – Is either translated into an amino acid or serves as
about 80 nucleotides long C a translational stop signal Next amino acid
to be added to
Second mRNA base
polypeptide chain
U C A G
3
– Is roughly L-shaped Amino acid A
C
UUU
UUC
Phe
UCU
UCC
UAU
UAC
Tyr
UGU
UGC
Cys
U
C
attachment site C U
A 5 UUA UCA Ser UAA Stop UGA Stop A tRNA
C G Leu UAG Stop UGG Trp G
Building a Polypeptide Ribosome Association and Initiation of Translation Elongation of the Polypeptide Chain
• We can divide translation into three stages • The initiation stage of translation • In the elongation stage of translation
– Initiation – Brings together mRNA, tRNA bearing the first – Amino acids are added one by one to the
amino acid of the polypeptide, and two preceding amino acid
– Elongation subunits of a ribosome TRANSCRIPTION DNA
mRNA
Amino end
of polypeptide
1 Codon recognition. The anticodon
of an incoming aminoacyl tRNA
base-pairs with the complementary
Ribosome
TRANSLATION mRNA codon in the A site. Hydrolysis
Polypeptide
Large of GTP increases the accuracy and
– Termination 3 U A C 5
P site
ribosomal
subunit
Ribosome ready for
mRNA
E
P A
3
efficiency of this step.
9
• DNA technology has launched a revolution in • Overview of gene cloning with a bacterial
the area of biotechnology plasmid, showing various uses of cloned genes
Bacterium Cell containing gene
1 Gene inserted of interest
Basic
Gene for pest Gene used to alter Protein dissolves Human growth
resistance inserted bacteria for cleaning blood clots in heart hormone treats
Figure 20.2 into plants up toxic waste attack therapy stunted growth
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10