Gregor

Mendel

St Thomas's Abbey (Brno, Czech Republic)

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 monohybrid cross

characteristic phenotype gene allele

plant height tall D

short dwarf d

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 F1 (first filial generation)
Produced by crossing two parental lines. The first set of offspring of two
parents.

F2 (second filial generation)

Produced by inter-crossing (or self-crossing) F1 individuals. The second
set of offspring of the original two parents.

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 Mendel’s hypotheses

1. Heredity determinants are particulate. (later named genes)

2. Genes occur in pairs

alternate forms of a gene are alleles
in adult plants each gene is present in 2 copies
alleles can be dominant or recessive

3. Members of a gene pair segregate equally into gametes

• Equal segregation of alleles

4. Each gamete contains one member of each gene pair

• Independent assortment of chromosomes)

5. Gametes combine to form a zygote independently of their allelic content

(random fertilization).

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 testcross
Typically, an F1 individual is crossed to a homozygous
recessive parent (the tester)

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 33. If you had a fruit fly (Drosophila
melanogaster) that was of phenotype A,
what test would you make to determine
if the fly’s genotype was A/A or A/a?

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 40. In the plant Arabidopsis thaliana, a geneticist is interested in
the development of trichomes (small projections). A large
genetic screen turns up two mutant plants (A and B) that
have no trichomes, and these mutants seem to be
potentially useful in studying trichome development. (If they
were determined by single-gene mutations, then finding the
normal and abnormal functions of these genes would be
instructive.) Each plant is crossed with wild type; in both
cases, the next generation (F1) had normal trichomes. When
F1 plants were selfed, the resulting F2’s were as follows:

• F2 from mutant A: 602 normal; 198 no trichomes

• F2 from mutant B: 267 normal; 93 no trichomes

a. What do these results show? Include proposed genotypes of

all plants in your answer.

b. Under your explanation to part a, is it possible to confidently

predict the F1 from crossing the original mutant A with the
original mutant B?

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 Naming genes can be entertaining

Dominant Recessive Gene

Organism Function phenotype phenotype Gene name abbreviation
plant height wild-type d
pea (gibberellin 3b- short height dwarf
oxidase)
(actually Le)

ABC wild-type
fly white eye color white w
transporter
bang sensitive
Mito ribosomal technical
fly wild-type paralytic tko
protein knockout
mutant
Transcription
fly wild-type no heart tinman tin
factor
wild-type I’m not dead
fly Na+ transport longer life indy
yet! (1)

(1) Monty Python and the Holy Grail

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 Naming genes can be entertaining

Dominant Recessive Gene

Organism Function phenotype allele Gene name abbreviation
cell boundary maintain cell- inappropriate
fly fringe fng
signaling cell interactions cell mixing

cell boundary maintain cell- inappropriate

mouse/human lunatic fringe Lfng (*)
signaling cell interactions cell mixing

cell boundary maintain cell- inappropriate

mouse/human radical fringe Rfng(*)
signaling cell interactions cell mixing
cell boundary maintain cell- inappropriate
mouse/human manic fringe Mfng(*)
signaling cell interactions cell mixing

* Tom Vogt

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 Dihybrid cross

characteristic phenotype gene allele

seed color yellow G
green green g
seed shape round W
wrinkled wrinkled w

P GGWW X ggww
yellow & round green & wrinkled

F1 GgWw
yellow & round

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 Dihybrid cross
expected progeny from GgWw x GgWw cross

gametes G W G w g W g w

G W G W G W G W G W
G W G w g W g w
G w G w G w G w G w
G W G w g W g w
g W g W g W g W g W
G W G w g W g w
g w g w g w g w g w
G W G w g W g w

4 gamete combinations
16 zygote combinations
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 Dihybrid cross
expected progeny from GgWw x GgWw cross

gametes G W G w g W g w

G W G W G W G W G W
G W G w g W g w
G w G w G w G w G w
G W G w g W g w
g W g W g W g W g W
G W G w g W g w
g w g w g w g w g w
G W G w g W g w

Is there a 3:1 phenotypic ratio for green?

expect yellow : green (3:1)
G - : gg
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 Dihybrid cross
expected progeny from GgWw x GgWw cross

gametes G W G w g W g w

G W G W G W G W G W
G W G w g W g w
G w G w G w G w G w
G W G w g W g w
g W g W g W g W g W
G W G w g W g w
g w g w g w g w g w
G W G w g W g w

Is there a 3:1 phenotypic ratio for wrinkled?

expect round : wrinkled (3:1)
W - : ww
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 Dihybrid cross
expected progeny from GgWw x GgWw cross

Fraction of progeny with

genotype
phenotype genotype genotype phenotype shorthand

yellow & round GGWW 1/16

GGWw 2/16
9/16 G-W-
GgWW 2/16
GgWw 4/16
yellow & wrinkled GGww 1/16
3/16 G - ww
Ggww 2/16
green & round ggWW 1/16
3/16 gg W -
ggWw 2/16
green & wrinkled ggww 1/16 1/16 gg ww
4 phenotypic 9 genotypic
classes classes 14
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 Dihybrid cross
A testcross is a far easier way to determine the genotype of the F1 progeny

GgWw X ggww

testor gametes

F1 gametes gw fraction phenotype genotype shorthand

G W
1/4 yellow & round Gg Ww
GW g w
G w
1/4 yellow & wrinkled Gg ww
Gw g w
g W gg Ww
1/4 green & round
gW g w
g w gg ww
1/4 green & wrinkled
gw g w
4 genotypic 4 phenotypic
classes classes

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 Predicting the number of zygotic genotypes and zygotic phenotypes
in an F2 generation
as a function of independently assorting genes [1]

# genes # genotypic classes # phenotypic classes

1 3 2
example-> DD Dd Dd tall (wild-type) & dwarf

2 9 4
3 27 8
4 81 16
n 3n 2n

[1] self-cross heterozygous F1 individuals

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17
 3 independently assorting genes: Predicting F2 phenotypes

forked-line method

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3 independently assorting genes: Predicting testcross phenotypes

forked-line method

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 Haploid chromosome numbers

Organism Common name 1n

Myrmecia pilosula bulldog or jumper ant 1 (!)
Schizosaccharomyces pombe fission yeast 3
Drosophila fruit fly 4
Caenorhabditis elegans C. elegans 6
Arabidopsis thaliana wall cress 6
Pisum sativum garden pea 7
Saccharomyces cerevisiae budding yeast 16
baker’s yeast
brewer’s yeast

Mus musculus mouse 20

Homo sapiens BIOL 221 students 23
Danio rerio zebrafish 25
Ophioglossum reticulatum Stalked Adder’s tongue fern ~630

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 Current chromosome number record holders

Myrmecia pilosula
(bulldog or jumper ant)
~ 10 mm

n=1!

Southern Australia

Crosland, Michael W.J., and Crozier, Ross H.; Myrmecia pilosula, an21
Ant with
Only One Pair of Chromosomes," Science, 23l:1278, 1986.)
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 Current chromosome number record holders

Ophioglossum reticulatum
(stalked Adder’s tongue fern)

n = 630!

Moorea Island in French Polynesia

(South Pacific). Terrestrial at low
elevations, in light forest or open areas
near water sources.

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 ®
®
OMIM : Online Mendelian Inheritance in Man

An Online Catalog of Human Genes & Genetic Disorders

Materials prepared by:

Jennifer Williams, Ph.D.
www.openhelix.com

URL: http://us-east.omim.org/
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 What gene is responsible for human disease
Phenylketonuria (PKU)?

Clinical phenotypes:
• Light color hair - reduced synthesis of melanin
• Impaired cognitive development - neurotoxic effect of hyperphenylalaninemia

Biochemical phenotype
• Normal blood [phenylalanine] is ~ 60 µM
• Untreated PKU blood [phenylalanine] can be 40 x higher (~ 2400 µM)

What is the molecular defect in PKU?

To which chromosome does this gene map?

OMIM: MIM ID #261600 PHENYLKETONURIA; PKU

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 OMIM homework

Complete the Online tutorial

Download Hands-on Exercises

You are interested in determining if there are any phenotypes associated with the
human TAS2R38 gene, and whether this association is due to variation in the gene.

• Which human chromosome contains the TAS2R38 gene?

• What is the function of the encoded protein?
• How long (aa) is the encoded protein?
• Is there a disease associated with alleles of this gene?

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