Observable Patterns of Inheritance

Earlobe Variation
 Whether a person has attached or
detached earlobes depends on a single gene  Attached earlobes: two copies of the recessive allele for this gene  Detached earlobes: either one or two copies of the dominant allele

Early Ideas about Heredity

 People knew that sperm and eggs
transmitted information about traits  Blending theory  Problem:
 Would expect variation to disappear  Variation in traits persists

Gregor Mendel
in plant breeding and mathematics  Using pea plants, found indirect but observable evidence of how parents transmit genes to offspring

 Strong background

Comments: Gene
 Mendel never used the term, gene, gene,
although he clearly made a distinction between, genotypes and phenotypes.  The term, gene, was coined by Wilhelm Johannsen (1909) based on the term, Pangenisis which Hugo de Vries (1889) used to describe Mendels concept of inherited units that determine phenotypes.

Genes
 Units of information about specific traits  Passed from parents to offspring  Each has a specific location (locus) on a
chromosome

Alleles
 Different molecular forms of a gene  Arise by mutation  Dominant allele masks a recessive
allele that is paired with it

Allele Combinations
 Homozygous
 having two identical alleles at a locus  AA or aa

 Heterozygous
 having two different alleles at a locus  Aa

Genetic Terms
A pair of homologous chromosomes

Figure 11.4 Page 179

A gene locus

A pair of alleles

Three pairs of genes

Figure 11.4 Page 179

Genotype & Phenotype

 Genotype refers to particular genes an
individual carries

 Phenotype refers to an individuals

observable traits

 Cannot always determine genotype by

observing phenotype

Parental generation P mates to produce First-generation offspring F1 mate to produce Second-generation offspring F2

Monohybrid Crosses
Experimental intercross between two F1 heterozygotes AA X aa Aa X Aa Aa (F1 monohybrids) ?

Mendels Monohybrid Cross Results

F2 plants showed dominant-torecessive ratio that averaged 3:1

5,474 round

1,850 wrinkled 2,001 green

6,022 yellow

882 inflated 428 green

299 wrinkled

152 yellow

705 purple

224 white

651 long stem

207 at tip

Figure 11.5 Page 180

787 tall

277 dwarf

Probability
The chance that each outcome of a given event will occur is proportional to the number of ways that event can be reached

Monohybrid Cross Illustrated

True-breeding homozygous recessive parent plant

F1 PHENOTYPES

aa
True-breeding homozygous dominant a parent plant

Aa a Aa Aa Aa

Aa

A AA A

Aa Aa

Aa

An F1 plant self-fertilizes and produces gametes:

F2 PHENOTYPES

Aa AA A A AA a Aa aa Aa aa Aa

Figure 11.7 Page 181

Aa

Monohybrid Cross #1
 Long hair is dominant to short hair in
guinea pigs. Show the results of a cross between a homozygous short haired male and a pure long haired female.

Monohybrid Cross #1
 What do we know?  Both parents are homologous.  Short haired male hh  Long haired female HH (H gene is
dominant)  hh x HH  Draw the Punnett Square

#1 Punnett Square
 hh x HH
H H
Meiosis 2n -> n Ova

Hh

Hh zygotes

Hh

Hh

sperm All of the F1s are hybrids, or heterogenous and they are long haired.

Monohybrid #2
 What is the probability that a cross
between two guinea pigs both heterogeneous for long would produce a short haired guinea pig?

Monohybrid #2
 Hh x Hh  Draw the Punnett square
H H h h

 Complete the problem (p = or 25%)

Monohybrid #3
 In Holstein cattle the spotting of the coat is
due to a recessive allele while the solid colored coat is controlled by a dominant allele. What types of offspring might be produced by a cross between two spotted animals?

Monohybrid #3
 Cross: spotted cow x spotted cow  Cross: ss x ss
 (where S = solid and s = spotted)

 Is it possible to have a solid calf?

Monohybrid #4
 In lemurs brown eyes are dominant over
blue eyes. If a heterozygous brown eyed female mates with a blue eyed male, what would be the expected genotypic and phenotypic ratios of their offspring?

Monohybrid #4
 Cross: Brown eyed heterozygous female
and a blue eyed male (homozygous)  B = brown and b = blue

 Bb x bb = 2 Bb and 2 bb  Genotypic ratio  Bb:bb 1:1  Phenotypic ratio  Brown: blue 1:1

Monohybrid Problem Set 1 On the Web Courtesy of the University of Arizona

 Form cooperative groups of 2 to 4 and  Solve the problems in the Monohybrid

Problem Set.  Well check the answers in class.  Monohybrid Cross Problem Set  http://www.biology.arizona.edu/mendelian _genetics/problem_sets/monohybrid_cros s/monohybrid_cross.html

Monohybrid Problem Set 2

 In unit 2 of Scribd youll find a word
document with some additional monohybrid probles (Mono Hybrid Crosses Key). You are responsible for mastering this too.  http://www.scribd.com/doc/38884141/Mon o-Hybrid-Crosses-Key Hybrid-Crosses-

Mendels Theory of Segregation

 An individual inherits a unit of information
(allele) about a trait from each parent

 During gamete formation, the alleles

segregate from each other

Test Cross
 Individual that shows dominant phenotype
is crossed with individual with recessive phenotype

 Examining offspring allows you to

determine the genotype of the dominant individual
BB or Bb ? Both brown phenotypes

Punnett Squares of Test Crosses

Homozygous recessive a a A a Aa aa Aa aa A A Homozygous recessive a a Aa Aa Aa Aa

Two phenotypes 1:1

All dominant phenotype

Dihybrid Cross

Experimental cross between individuals that are homozygous for different versions of two traits (Note: Youll not have any dihybrid problems to solve on any test)

Dihybrid Cross: F1 Results

TRUEBREEDING PARENTS: purple flowers, tall AABB x aabb white flowers, dwarf

GAMETES:

AB

AB AaBb

ab

ab

F1 HYBRID OFFSPRING:

All purple-flowered, tall

Figure 11.9 (1) Page 183

Dihybrid Cross: F2 Results

AaBb X AaBb 1/4 AB 1/4 Ab 1/4 aB 1/4 AB 1/16 AABB 1/16 AABb 1/16 AaBB 1/16 AaBb 1/16 AABb 1/16 AAbb 1/16 AaBb 1/16 Aabb 1/16 AaBB 1/16 AaBb 1/16 aaBB 1/16 aaBb 1/4 ab 1/16 AaBb 1/16 Aabb 1/16 aaBb 1/16 aabb 9/16 purple-flowered, tall 3/16 purple-flowered, dwarf 3/16 white-flowered, tall 1/16 white-flowered, dwarf

1/4 Ab

1/4 aB

1/4 ab

Figure 11.9(2) Page 183

Independent Assortment
 Mendel concluded that the two units for
the first trait were to be assorted into gametes independently of the two units for the other trait

 Members of each pair of homologous

chromosomes are sorted into gametes at random during meiosis

Independent Assortment

Metaphase I:
A B A a B b a b

OR
a b a b A b A b

A b

A a b B

a B

Metaphase II:
A B A B a B a B

Gametes:

B A A 1/4 AB

B a

b a 1/4 ab

b A

b A 1/4 Ab

b a

B a 1/4 aB

Tremendous Variation
Number of genotypes possible in offspring as a result of independent assortment and hybrid crossing is 2n (n is the number of gene loci at which the parents differ)

Impact of Mendels Work

 Mendel presented his results in 1865  Paper received little notice  Mendel discontinued his experiments in
1871

 Paper rediscovered in 1900

Dominance Relations
Complete dominance Incomplete dominance Codominance

Incomplete Dominance

X Incomplete Homozygous Homozygous parent parent Dominance All F1 are heterozygous

Figure 11.10 Page 184 F2 shows three phenotypes in 1:2:1 ratio

Codominance: ABO Blood Types

 Gene that controls ABO type codes for
enzyme that dictates structure of a glycolipid on blood cells

 Two alleles (IA and IB) are codominant (I

when paired

 Third allele (i) is recessive to others (i

ABO Blood Type: Allele Combinations

Range of genotypes: IA IA or IA i IA IB IB IB or IB i ii

Blood types:

AB

Figure 11.11 Page 184

ABO and Transfusions

 Recipients immune system will attack
blood cells that have an unfamiliar glycolipid on surface

 Type O is universal donor because it has

neither type A nor type B glycolipid

Pleiotropy
 Alleles at a single locus may have effects
on two or more traits

 Marfan syndrome - Mutation in gene for

fibrillin affects skeleton, cardiovascular system, lungs, eyes, and skin

Marfan Syndrome

Campodactyly: Unexpected Phenotypes

 Effect of allele varies:
 Bent fingers on both hands  Bent fingers on one hand  No effect

 Many factors affect gene expression

Continuous Variation
 A more or less continuous range of small
differences in a given trait among individuals

 The greater the number of genes and

environmental factors that affect a trait, the more continuous the variation in versions of that trait

Human Variation
 Some human traits occur as a few discrete
types
 Attached or detached earlobes  Many genetic disorders

 Other traits show continuous variation

    Height Weight Eye color IQ

Polygenic Inheritance
 Suppose height in humans is controlled by
three sets of genes each on a different chromosome (independently assorted). Assume that each dominant allele contributes 1 unit of height and a recessive allele produces only unit of height.  Two average heigth parents have the genotypes:  AaBbCc x AaBbCc

Polygenic Inheritance
 Each parent can produce 8 gametic gene
combinations:  ABC, ABc, AbC, aBC, Abc, aBc, abC, abc ABc, AbC, aBC, Abc, aBc, abC,  What size Punnett Square would we need?

ABC

AB c

Ab C

aB C

ab C AaBb CC AaBb Cc AabbC C aaBb CC aabb CC aaBb Cc Aabb Cc aabb Cc

aB c AaBB Cc AaBB cc AaBb Cc aaBB Cc aaBb Cc aaBB cc AaBb cc aaBbc c

A bc
AABb Cc AABb cc AAbb Cc AaBb Cc AaBb cc AaBb cc AAbb cc Aabb cc

ab c AaBb Cc AaBb cc Aabb Cc aaBb Cc aabb Cc aaBbc c Aabb cc

aabbcc

ABC

AAB BCC
AABB Cc AABb CC AaBB CC AaBb CC AaBB Cc AABb Cc

AABB Cc AABB cc AABb Cc AaBB Cc AaBb Cc

AABb CC AABb Cc AAbb CC AaBb CC Aabb CC

AaBB CC
AaBB Cc
AaBbC C

ABc

AbC

aBC abC aBc Abc `abc

aaBB CC

aaBb CC

AaBB cc AABb cc AaBb cc

AaBb Cc AAbb Cc Aabb Cc

aaBB Cc AaBb Cc aaBb Cc

AaBb Cc

6 units

5.5 units 5 units

4.5 units 4 units

Polygenic inheritance produces a more or less continuous distribution of phenotypes. The more genes involved, the smoother the distribution. Parents AaBbCc 4.5 units each

3.5 units 3 units

Roughly bell shaped

Describing Continuous Variation

Number of individuals with some value of the trait

(line of bell-shaped curve indicates continuous variation in population)

Range of values for the trait

Number of individuals with some value of the trait

Range of values for the trait

Temperature Effects on Phenotype

 Rabbit is homozygous for
an allele that specifies a heatheat-sensitive version of an enzyme in melaninmelaninproducing pathway  Melanin is produced in cooler areas of body
Figure 11.18 Page 190

Environmental Effects on Plant Phenotype

 Hydrangea macrophylla  Action of gene responsible for floral
color is influenced by soil acidity  Flower color ranges from pink to blue