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Genetics
&
The Work of Mendel

AP Biology

2006-2007
Gregor Mendel
 Modern genetics began in the
mid-1800s in an abbey garden,
where a monk named Gregor
Mendel documented inheritance
in peas
used experimental method
 used quantitative analysis


 collected data & counted them


AP Biology

excellent example of scientific
method
Mendel’s work
 Bred pea plants


Pollen transferred from white
flower to stigma of purple flower

P

cross-pollinate
true breeding parents (P)
 P = parental



raised seed & then
observed traits (F1)
 F = filial



allowed offspring
to self-pollinate
& observed next
generation (F2)

AP Biology

anthers
removed

all purple flowers result

F1
self-pollinate

F2
Mendel collected data for 7 pea traits

AP Biology
Looking closer at Mendel’s work
P

F1

true-breeding
true-breeding
X white-flower peas
purple-flower peas

100%
purple-flower peas

Where did
the white
flowers go?

100%

generation
(hybrids)

self-pollinate

F2

generation
AP Biology

75%
purple-flower peas

White
flowers came
back!

25%
white-flower peas

3:1
What did Mendel’s findings mean?
 Traits come in alternative versions
purple vs. white flower color
 alleles


 different alleles vary in the sequence of

nucleotides at the specific locus of a gene
 some difference in sequence of A, T, C, G

purple-flower allele &
white-flower allele are two DNA
variations at flower-color locus
different versions of gene at
same location on homologous
chromosomes
AP Biology
Traits are inherited as discrete units
 For each characteristic, an organism
inherits 2 alleles, 1 from each parent


diploid organism
 inherits 2 sets of chromosomes,

1 from each parent
 homologous chromosomes
 like having 2 editions of encyclopedia
 Encyclopedia Britannica
 Encyclopedia Americana

AP Biology

What are the
advantages of
being diploid?
What did Mendel’s findings mean?
 Some traits mask others


purple & white flower colors are
separate traits that do not blend

I’ll speak for
both of us!

 purple x white ≠ light purple
 purple masked white


dominant allele
 functional protein
 masks other alleles



mutant
allele producing
malfunctioning
protein

recessive allele
 allele makes a

malfunctioning protein
AP Biology

wild type
allele producing
functional protein

homologous
chromosomes
Genotype vs. phenotype
 Difference between how an organism
“looks” & its genetics


phenotype
 description of an organism’s trait
 the “physical”



genotype
 description of an organism’s genetic

makeup

Explain Mendel’s results using
…dominant & recessive
…phenotype & genotype
AP Biology

X

P
purple

white

F1
all purple
Making crosses
 Can represent alleles as letters
flower color alleles → P or p
 true-breeding purple-flower peas → PP
 true-breeding white-flower peas → pp


PP x pp

X

P
purple

white

F1
AP Biology

all purple

Pp
Looking closer at Mendel’s work
P

true-breeding
true-breeding
X white-flower peas phenotype
purple-flower peas

PP

pp
100%
purple-flower peas

F1

genotype

100%

generation
(hybrids)

Pp Pp Pp Pp
self-pollinate

F2

generation
AP Biology

75%
purple-flower peas

?

?

?

25%
white-flower peas

?

3:1
Punnett squares
Pp x Pp

F1

Aaaaah,
phenotype & genotype
can have different
ratios

generation
(hybrids)

%
genotype

male / sperm

female / eggs

P

p

PP
Pp

P

PP

Pp

p

Pp

pp

AP Biology

%
phenotype

25%
75%
50%

Pp
pp

25% 25%
1:2:1

3:1
Genotypes
 Homozygous = same alleles = PP, pp
 Heterozygous = different alleles = Pp
homozygous
dominant

heterozygous

homozygous
recessive
AP Biology
Phenotype vs. genotype
 2 organisms can have the same
phenotype but have different genotypes
purple

PP

homozygous dominant

purple

Pp

heterozygous

How do you determine the
genotype of an individual with
with a dominant phenotype?
AP Biology

Can’t tell
by lookin’
at ya!
Test cross
 Breed the dominant phenotype —
the unknown genotype — with a
homozygous recessive (pp) to
determine the identity of the unknown
allele
How does
that work?

x
is it
PP or Pp?
AP Biology

pp
How does a Test cross work?
Am I
this?

Or am I
this?

x
PP

pp

x
Pp

p

p

P

Pp

Pp

P

Pp

Pp

P

Pp

Pp

p

pp

pp

AP Biology

100% purple

p

pp
p

50% purple:50% white or 1:1
Mendel’s 1st law of heredity
PP
 Law of segregation


during meiosis, alleles segregate

P
P

 homologous chromosomes separate


each allele for a trait is packaged into
a separate gamete

p

pp

p
P
Pp
AP Biology

p
Law of Segregation
 Which stage of
meiosis creates the
law of segregation?
Metaphase 1
Whoa!
And Mendel
didn’t even know
DNA or genes
existed!

AP Biology
Monohybrid cross
 Some of Mendel’s experiments followed
the inheritance of single characters
flower color
 seed color
 monohybrid crosses


AP Biology
Dihybrid cross
 Other of Mendel’s
experiments followed
the inheritance of 2
different characters
seed color and
seed shape
 dihybrid crosses


AP Biology

Mendel
was working out
many of the
genetic rules!
Dihybrid cross
P

true-breeding
yellow, round peas
Y = yellow
R = round

x

YYRR

yyrr

true-breeding
green, wrinkled peas
y = green
r = wrinkled

yellow, round peas

F1

generation
(hybrids)

100%

YyRr
self-pollinate

F2

generation
AP Biology

9:3:3:1
9/16
yellow
round
peas

3/16
green
round
peas

3/16
yellow
wrinkled
peas

1/16
green
wrinkled
peas
What’s going on here?
 If genes are on different chromosomes…
how do they assort in the gametes?
 together or independently?


YyRr Is it this?

YR
AP Biology

yr

Or this?

YR

YyRr

Yr

Which system
explains the
data?

yR

yr
YyRr

Is this the way it works?
YR

YyRr x YyRr

or

yr

YyRr

YR Yr

yR

yr

9/16
yellow
round

YR
YR
yr
AP Biology

yr

YYRR

YyRr

YyRr

yyrr

Well, that’s
NOT right!

3/16
green
round
3/16
yellow
wrinkled
1/16
green
wrinkled
YyRr

Dihybrid cross
YR

YyRr x YyRr
YR

Yr

yR

yr

or

YR Yr

yr

YyRr

Yyrr

yR YyRR YyRr yyRR

yyRr

yr
AP Biology

YYRr

YyRr

YYrr

Yyrr

yyRr

yyrr

yR

yr

9/16
yellow
round
3/16
green
round

YR YYRR YYRr YyRR YyRr
Yr

YyRr

BINGO!

3/16
yellow
wrinkled
1/16
green
wrinkled
Mendel’s 2nd law of heredity

Can you think
of an exception
to this?

 Law of independent assortment


yellow

different loci (genes) separate into gametes
independently

green

 non-homologous chromosomes align independently
 classes of gametes produced in equal amounts

round

 only true for genes on separate chromosomes or

 YR = Yr = yR = yr

wrinkled

on same chromosome but so far apart that crossing
over happens frequently

YyRr
Yr

Yr

1

AP Biology

yR

:

yR

1

YR

:

YR

1

yr

:

yr

1
Law of Independent Assortment
 Which stage of meiosis
creates the law of
independent assortment?
Remember
Mendel didn’t
even know DNA
—or genes—
existed!

AP Biology

Metaphase 1

EXCEPTION
 If genes are on same
chromosome & close together
 will usually be inherited
together
 rarely crossover separately
 “linked”
The
chromosomal
basis of Mendel’s
laws…
Trace the genetic
events through
meiosis, gamete
formation &
fertilization to
offspring
AP Biology
Review: Mendel’s laws of heredity
 Law of segregation


monohybrid cross
 single trait



each allele segregates into separate gametes
 established by Metaphase 1

 Law of independent assortment


dihybrid (or more) cross
 2 or more traits



genes on separate chromosomes
assort into gametes independently
 established by Metaphase 1

AP Biology

EXCEPTION
 linked genes

metaphase1
Mendel chose peas wisely
 Pea plants are good for genetic research


available in many varieties with distinct
heritable features with different variations
 flower color, seed color, seed shape, etc.



Mendel had strict control over
which plants mated with which
 each pea plant has male & female

AP Biology

structures
 pea plants can self-fertilize
 Mendel could also cross-pollinate
plants: moving pollen from one plant
to another
Mendel chose peas luckily
 Pea plants are good for genetic research


relatively simple genetically
 most characters are controlled by a single gene

with each gene having only 2 alleles,
 one completely dominant over
the other

AP Biology
Any Questions??

AP Biology

2006-2007

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57 ch13mendel2008

  • 1. Genetics & The Work of Mendel AP Biology 2006-2007
  • 2. Gregor Mendel  Modern genetics began in the mid-1800s in an abbey garden, where a monk named Gregor Mendel documented inheritance in peas used experimental method  used quantitative analysis   collected data & counted them  AP Biology excellent example of scientific method
  • 3. Mendel’s work  Bred pea plants  Pollen transferred from white flower to stigma of purple flower P cross-pollinate true breeding parents (P)  P = parental  raised seed & then observed traits (F1)  F = filial  allowed offspring to self-pollinate & observed next generation (F2) AP Biology anthers removed all purple flowers result F1 self-pollinate F2
  • 4. Mendel collected data for 7 pea traits AP Biology
  • 5. Looking closer at Mendel’s work P F1 true-breeding true-breeding X white-flower peas purple-flower peas 100% purple-flower peas Where did the white flowers go? 100% generation (hybrids) self-pollinate F2 generation AP Biology 75% purple-flower peas White flowers came back! 25% white-flower peas 3:1
  • 6. What did Mendel’s findings mean?  Traits come in alternative versions purple vs. white flower color  alleles   different alleles vary in the sequence of nucleotides at the specific locus of a gene  some difference in sequence of A, T, C, G purple-flower allele & white-flower allele are two DNA variations at flower-color locus different versions of gene at same location on homologous chromosomes AP Biology
  • 7. Traits are inherited as discrete units  For each characteristic, an organism inherits 2 alleles, 1 from each parent  diploid organism  inherits 2 sets of chromosomes, 1 from each parent  homologous chromosomes  like having 2 editions of encyclopedia  Encyclopedia Britannica  Encyclopedia Americana AP Biology What are the advantages of being diploid?
  • 8. What did Mendel’s findings mean?  Some traits mask others  purple & white flower colors are separate traits that do not blend I’ll speak for both of us!  purple x white ≠ light purple  purple masked white  dominant allele  functional protein  masks other alleles  mutant allele producing malfunctioning protein recessive allele  allele makes a malfunctioning protein AP Biology wild type allele producing functional protein homologous chromosomes
  • 9. Genotype vs. phenotype  Difference between how an organism “looks” & its genetics  phenotype  description of an organism’s trait  the “physical”  genotype  description of an organism’s genetic makeup Explain Mendel’s results using …dominant & recessive …phenotype & genotype AP Biology X P purple white F1 all purple
  • 10. Making crosses  Can represent alleles as letters flower color alleles → P or p  true-breeding purple-flower peas → PP  true-breeding white-flower peas → pp  PP x pp X P purple white F1 AP Biology all purple Pp
  • 11. Looking closer at Mendel’s work P true-breeding true-breeding X white-flower peas phenotype purple-flower peas PP pp 100% purple-flower peas F1 genotype 100% generation (hybrids) Pp Pp Pp Pp self-pollinate F2 generation AP Biology 75% purple-flower peas ? ? ? 25% white-flower peas ? 3:1
  • 12. Punnett squares Pp x Pp F1 Aaaaah, phenotype & genotype can have different ratios generation (hybrids) % genotype male / sperm female / eggs P p PP Pp P PP Pp p Pp pp AP Biology % phenotype 25% 75% 50% Pp pp 25% 25% 1:2:1 3:1
  • 13. Genotypes  Homozygous = same alleles = PP, pp  Heterozygous = different alleles = Pp homozygous dominant heterozygous homozygous recessive AP Biology
  • 14. Phenotype vs. genotype  2 organisms can have the same phenotype but have different genotypes purple PP homozygous dominant purple Pp heterozygous How do you determine the genotype of an individual with with a dominant phenotype? AP Biology Can’t tell by lookin’ at ya!
  • 15. Test cross  Breed the dominant phenotype — the unknown genotype — with a homozygous recessive (pp) to determine the identity of the unknown allele How does that work? x is it PP or Pp? AP Biology pp
  • 16. How does a Test cross work? Am I this? Or am I this? x PP pp x Pp p p P Pp Pp P Pp Pp P Pp Pp p pp pp AP Biology 100% purple p pp p 50% purple:50% white or 1:1
  • 17. Mendel’s 1st law of heredity PP  Law of segregation  during meiosis, alleles segregate P P  homologous chromosomes separate  each allele for a trait is packaged into a separate gamete p pp p P Pp AP Biology p
  • 18. Law of Segregation  Which stage of meiosis creates the law of segregation? Metaphase 1 Whoa! And Mendel didn’t even know DNA or genes existed! AP Biology
  • 19. Monohybrid cross  Some of Mendel’s experiments followed the inheritance of single characters flower color  seed color  monohybrid crosses  AP Biology
  • 20. Dihybrid cross  Other of Mendel’s experiments followed the inheritance of 2 different characters seed color and seed shape  dihybrid crosses  AP Biology Mendel was working out many of the genetic rules!
  • 21. Dihybrid cross P true-breeding yellow, round peas Y = yellow R = round x YYRR yyrr true-breeding green, wrinkled peas y = green r = wrinkled yellow, round peas F1 generation (hybrids) 100% YyRr self-pollinate F2 generation AP Biology 9:3:3:1 9/16 yellow round peas 3/16 green round peas 3/16 yellow wrinkled peas 1/16 green wrinkled peas
  • 22. What’s going on here?  If genes are on different chromosomes… how do they assort in the gametes?  together or independently?  YyRr Is it this? YR AP Biology yr Or this? YR YyRr Yr Which system explains the data? yR yr
  • 23. YyRr Is this the way it works? YR YyRr x YyRr or yr YyRr YR Yr yR yr 9/16 yellow round YR YR yr AP Biology yr YYRR YyRr YyRr yyrr Well, that’s NOT right! 3/16 green round 3/16 yellow wrinkled 1/16 green wrinkled
  • 24. YyRr Dihybrid cross YR YyRr x YyRr YR Yr yR yr or YR Yr yr YyRr Yyrr yR YyRR YyRr yyRR yyRr yr AP Biology YYRr YyRr YYrr Yyrr yyRr yyrr yR yr 9/16 yellow round 3/16 green round YR YYRR YYRr YyRR YyRr Yr YyRr BINGO! 3/16 yellow wrinkled 1/16 green wrinkled
  • 25. Mendel’s 2nd law of heredity Can you think of an exception to this?  Law of independent assortment  yellow different loci (genes) separate into gametes independently green  non-homologous chromosomes align independently  classes of gametes produced in equal amounts round  only true for genes on separate chromosomes or  YR = Yr = yR = yr wrinkled on same chromosome but so far apart that crossing over happens frequently YyRr Yr Yr 1 AP Biology yR : yR 1 YR : YR 1 yr : yr 1
  • 26. Law of Independent Assortment  Which stage of meiosis creates the law of independent assortment? Remember Mendel didn’t even know DNA —or genes— existed! AP Biology Metaphase 1 EXCEPTION  If genes are on same chromosome & close together  will usually be inherited together  rarely crossover separately  “linked”
  • 27. The chromosomal basis of Mendel’s laws… Trace the genetic events through meiosis, gamete formation & fertilization to offspring AP Biology
  • 28. Review: Mendel’s laws of heredity  Law of segregation  monohybrid cross  single trait  each allele segregates into separate gametes  established by Metaphase 1  Law of independent assortment  dihybrid (or more) cross  2 or more traits  genes on separate chromosomes assort into gametes independently  established by Metaphase 1 AP Biology EXCEPTION  linked genes metaphase1
  • 29. Mendel chose peas wisely  Pea plants are good for genetic research  available in many varieties with distinct heritable features with different variations  flower color, seed color, seed shape, etc.  Mendel had strict control over which plants mated with which  each pea plant has male & female AP Biology structures  pea plants can self-fertilize  Mendel could also cross-pollinate plants: moving pollen from one plant to another
  • 30. Mendel chose peas luckily  Pea plants are good for genetic research  relatively simple genetically  most characters are controlled by a single gene with each gene having only 2 alleles,  one completely dominant over the other AP Biology

Notes de l'éditeur

  1. He studied at the University of Vienna from 1851 to 1853 where he was influenced by a physicist who encouraged experimentation and the application of mathematics to science and a botanist who aroused Mendel’s interest in the causes of variation in plants. After the university, Mendel taught at the Brunn Modern School and lived in the local monastery. The monks at this monastery had a long tradition of interest in the breeding of plants, including peas. Around 1857, Mendel began breeding garden peas to study inheritance.
  2. P = parents F = filial generation
  3. In a typical breeding experiment, Mendel would cross-pollinate (hybridize) two contrasting, true-breeding pea varieties. The true-breeding parents are the P generation and their hybrid offspring are the F1 generation. Mendel would then allow the F1 hybrids to self-pollinate to produce an F2 generation.
  4. In a typical breeding experiment, Mendel would cross-pollinate (hybridize) two contrasting, true-breeding pea varieties. The true-breeding parents are the P generation and their hybrid offspring are the F1 generation. Mendel would then allow the F1 hybrids to self-pollinate to produce an F2 generation.
  5. Wrinkled seeds in pea plants with two copies of the recessive allele are due to the accumulation of monosaccharides and excess water in seeds because of the lack of a key enzyme. The seeds wrinkle when they dry. Both homozygous dominants and heterozygotes produce enough enzyme to convert all the monosaccharides into starch and form smooth seeds when they dry.