chapter 14 mendel and the gene idea. overview: drawing from the deck of genes what genetic...
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Chapter 14Chapter 14Mendel and the Gene Idea
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Overview: Drawing from the Deck of Genes
• What genetic principles account for the passing of traits from parents to offspring?
• The “blending” hypothesis is the idea that genetic material from the two parents blends together (like blue and yellow paint blend to make green)
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
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• The “particulate” hypothesis is the idea that parents pass on discrete heritable units (genes)
• Mendel documented a particulate mechanism through his experiments with garden peas
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
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Beliefs about Heredity
Fig. 1. De la propagation du genre humain, ou manuel indispensable pour ceux qui veulent avoir de beaux enfants de l’un ou l’autre sexe (Paris, Year VII). Image courtesy of the Bibliothèque Interuniversitaire de Médecine, Paris.
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HomunculusHow is “heredity passed on:
Spermist vs Ovists
Spermist conception of a
human sperm
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Homunculus
Leeuwenhoek’s black male and white female rabbit experiments: spermist “proof”
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Darwin
What he got right. What he got wrong.
• Acquired characteristics
Ex. Blind cave animals
• Sex. Repro.- gemmules from all over body are packed in sperm and egg
• Blended inheritance
• Likes produce likes
• Change can be permanent
• There is no limit to cumulative change
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Gregor MendelMendelian GeneticsMendelian Genetics
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Fig. 14-5-3
P Generation
Appearance:Genetic makeup:
Gametes:
Purple flowers White flowersPP
P
pp
p
F1 Generation
Gametes:
Genetic makeup:Appearance: Purple flowers
Pp
P p1/21/2
F2 Generation
Sperm
Eggs
P
PPP Pp
p
pPp pp
3 1
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Mendel’s Three Principles
• Dominance
• Segregation
• Independent Assortment
The foundation of “classical” scienceThe foundation of “classical” science
(1822-1884)
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Dominance
• Traits of both parents inherited, but one shows over the other
• Traits are not blended
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Dominance Mechanism
• Two alleles are carried for each trait
• In true-breeding individuals, both alleles are the same.
• Hybrids, on the other hand, have one of each kind of allele.
• One trait is dominant, the other trait is recessive
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Segregation
• Half the gametes (egg or sperm) will carry the traits of one parent and half the traits for the other parent
Pairs of alleles are separated (=segregated) during meiosisPairs of alleles are separated (=segregated) during meiosis
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Two different parental characteristics will be inherited independently of one another during gamete formation.
Independent Assortment
Example: flower color and leaf shape
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• Genes- genetic material on a chromosome that codes for a specific trait
• Genotype- the genetic makeup of the organism
• Phenotype- the expressed trait
• Allel- an alternative form of a gene
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Dominance Mechanism
• Two alleles are carried for each trait
• In true-breeding individuals, both alleles are the same (homozygous).
• Hybrids, on the other hand, have one of each kind of allele (heterozygous).
• One trait is dominant, the other trait is recessive
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Genetic Information
Genes are traits
“Eye color”
Ear lobe connectedness
Genes produce proteins
Enzymes are proteins
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Homologous Chromosomes
gene: location
allele: specific trait
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Allele Example
Gene = “eye color”
Alleles
brownbluegreenlavender
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Allele Examples
appearance
eye color:homozygous
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Allele Examples
appearance
eye color:heterozygous,
brown dominant over blue
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Genotype vs Phenotype
homozygous(dominant)
heterozygous
homozygous
(recessive)
genotype phenotype
appearanceappearance
Phaner = visible
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Punnett Square
If male & female are heterozygous for eye color
X
brown: 3/4 offspring
blue: 1/4 offspring
male
female
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PKU
Each parent carries one gene for PKU.
P p
P pX
P
p
pP
P
P
P
p
p
P
p
p
Possible genotypes: 1PP 2Pp 1pp
Possible phenotypes:no PKU PKU
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Compare this to what would have happened if one parent was homozygous for sickle cell.
HbA HbA
HbS HbS
X
HbS
HbS
HbAHbA
HbA
HbS
HbA
HbS
HbS
HbA
HbS
HbA
all offspring are carriers of sickle cell trait
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Color blind- sex linked
XS Xs
Xs Y
X
Xs
Y
XsXS
XS
Xs
Xs
Xs
Y
XS
Y
XsS= color blind
s= normal
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Phenotype
HbA Hb_
HbA HbB
X
HbA
HbB
Hb_HbA
HbA
HbA
HbA
Hb_
HbB
HbA
Hb_
HbB
A
B
AB
O
GenotypeBlood Type
AA, A_
BB, B_
AB
_ _
Outcome: AA, A_, AB, B_
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Where Does Genetic Diversity Come Where Does Genetic Diversity Come From?From?
• Mutation
• Chromosomal Aberrations
• Genetic Recombination (e.g., from sexual reproduction)
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MutationMutation
Mutations are changes to the sequence of nucleotide bases within a gene.
A possible consequence is the change in the amino acid sequence of a protein.
Mutations are rare, but occur often enough to be important (each of us will probably pass at least one mutation on to our offspring).
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mutationmutation
Sickle Cell Mutation
CTG ACT CCT GAG GAG AAG TCT
Leu Thr Pro Glu Glu Lys Ser
CTG ACT CCT GAG GTG AAG TCT
Leu Thr Pro Glu Val Lys Ser
NORMAL Hb
SICKLE CELL
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MutationMutation• Some mutations may be deleterious, while
others are may enhance chances for survival.
• Probably most mutations are neutral, having little or no effect on the fitness of the organism.
• Mutations may accumulate generation after generation, eventually leading to substantial differences in the characteristics of a species over time.
• Some mutations may be deleterious, while others are may enhance chances for survival.
• Probably most mutations are neutral, having little or no effect on the fitness of the organism.
• Mutations may accumulate generation after generation, eventually leading to substantial differences in the characteristics of a species over time.
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Autosomes and Sex Chromosomes
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Red-Green Color Blindness
Sex-linked trait
XC Y
XC Xc
X
XC
Xc
YXC
XC
XC
XC
Y
Xc
XC
Y
Xc
Normal male
Normal female recessive gene
Possible outcomes: XCXC XCXc XCY XcYNormal
femaleNormal
Female
(carrier)
Normal
male
Color-blind male
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Dominance
Most traits show complete dominance
Blending unexpected
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E unconnected earlobe
e connected earlobe
E unconnected earlobe
e connected earlobe
alleleallele genegene
P EE x ee
gametes E e
F1 Ee
unconnected
connected
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F1 Ee x Ee
gametes1/2 E 1/2 e1/2 E 1/2 e
E
e
E e
EE Ee
Ee ee
F2 1 EE 2 Ee 1 ee
PunnettSquare
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P
F1
F2
EE, ee
Ee
EE, 2 Ee, ee
50%
100%
75%
1:1
1:1
1:1
generation genotypes unconnected E:e
Basis of the Castle-Hardy-Weinberg Law
phenotypesphenotypes
ratio of alleles in the populationratio of alleles in the population
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Genotypes Phenotypes
Experiment to determinedominant vs. recessiveExperiment to determinedominant vs. recessive
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Genetic Sleuthing
My eye color phenotype is brown.
What is my genotype?
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Pedigree phenotypesphenotypes
infer genotypes
Alternative:
look directly at the DNA
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Complexities
Multiple genes for one trait
Example: eye color
Blended traits (“incomplete dominance”)
Influence of the environment
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Degrees of Dominance
• Complete dominance occurs when phenotypes of the heterozygote and dominant homozygote are identical
• In incomplete dominance, the phenotype of F1 hybrids is somewhere between the phenotypes of the two parental varieties
• In codominance, two dominant alleles affect the phenotype in separate, distinguishable ways
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
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Fig. 14-10-1
Red
P Generation
Gametes
WhiteCRCR CWCW
CR CW
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Fig. 14-10-2
Red
P Generation
Gametes
WhiteCRCR CWCW
CR CW
F1 GenerationPinkCRCW
CR CWGametes 1/21/2
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Fig. 14-10-3
Red
P Generation
Gametes
WhiteCRCR CWCW
CR CW
F1 GenerationPinkCRCW
CR CWGametes 1/21/2
F2 Generation
Sperm
Eggs
CR
CR
CW
CW
CRCR CRCW
CRCW CWCW
1/21/2
1/2
1/2
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Fig. 14-UN2
Degree of dominance
Complete dominanceof one allele
Incomplete dominanceof either allele
Codominance
Description
Heterozygous phenotypesame as that of homo-zygous dominant
Heterozygous phenotypeintermediate betweenthe two homozygousphenotypes
Heterozygotes: Bothphenotypes expressed
Multiple alleles
Pleiotropy
In the whole population,some genes have morethan two alleles
One gene is able toaffect multiplephenotypic characters
CRCR CRCW CWCW
IAIB
IA , IB , i
ABO blood group alleles
Sickle-cell disease
PP Pp
Example
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Disorders
Down’s Syndrome (chrom 21)
Huntington’s (chrom 4)
Alzheimer’s (chrom 1, 10, 14, 19, 21)
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Nature and Nurture: The Environmental Impact on Phenotype
• Another departure from Mendelian genetics arises when the phenotype for a character depends on environment as well as genotype
• The norm of reaction is the phenotypic range of a genotype influenced by the environment
• For example, hydrangea flowers of the same genotype range from blue-violet to pink, depending on soil acidity
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
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Fig. 14-14
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Tongue Roller
R = Tongue Rollerr = Unable to Roll Tongue
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Widow’s Peak
W = Widows Peakw = Lack of Widow’s Peak
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Free Ear Lobe Attached Ear Lobe
E = Free Ear Lobee = Attached Ear Lobe
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Hitchhiker’s Thumb
Hi = Straight Thumbhi = Hitchhiker’s Thumb
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Bent Little Finger
Bf = Bent Little Fingerbf = Straight Little Finger
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Mid-digital Hair
M = Mid-Digital Hairm = Absence of Mid-Digital Hair
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Dimples
D = Dimplesd = Absence of Dimples
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Short Hallux
Ha = Short Halluxha = Long Hallux
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Short Index Finger
Ss = Short Index FingerS1 = Long Index Finger
*Sex-Influenced Trait*Sex-Influenced Trait
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http://www.youtube.com/watch?v=gCPuHzbb5hA
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Human Genome Project
U.S. govt. project coordinated by the Department of Energy and the National Institutes of Health, launched in 1986 by Charles DeLisi.
Definition: GENOME – the whole hereditary information of an organism that is encoded in the DNA.
Project Goal: to identify the approximate 100,000 genes in the human DNA.
- determine the sequences of the 3 billion bases that make up human DNA.
- store this information in databases.
- develop tools for data analysis.
- address the ethical, legal, and social issues that arise from genome research.
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• Bacteria (E. coli, influenza, several others)
• Yeast (Saccharomyces cerevisiae)
• Plant (Arabidopsis thaliana)
• Fruit fly (Drosophila melanogaster)
• Mouse (Mus musculus)
Modeled Organisms
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DNA from 5 humans:
• 2 males, 3 females
• 2 caucasians, one each of asian, african, hispanic
• Cut up DNA with restriction enzymes
• Ligated into BACs & YACs, then grew them up
• Sequenced the BACs
• Let a supercomputer put the pieces together
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Craig VenterCelera Genomics
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Importance of geneticsImportance of genetics• Understanding hereditary diseases and to Understanding hereditary diseases and to
develop new treatmentsdevelop new treatments
• Donor matchesDonor matches
• PaternityPaternity
• ForensicsForensics
• EvolutionEvolution
• MigrationMigration
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Polynesian OriginsPolynesian Origins
Bismarck Archipelago 3.5ka
http://www.sciencedaily.com/releases/2011/02/110203124726.htm
mtDNA
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Polynesian OriginsPolynesian Origins
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Genetic Testing
Would you want to know?
• Ethical concerns
• Cost
• Insurance companies
see
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Genetic Testing
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Gel electrophoresis
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PCR is a rapid, inexpensive and simple way of copying specific DNA fragments from minute quantities of source DNA material
Three steps are involved in PCR: • Denaturation• Annealing• Extension
Polymerase Chain Reaction
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Genetic Testing
Paternity Test $99
$99, looks at specific diseases
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Counseling Based on Mendelian Genetics and Probability Rules
• Using family histories, genetic counselors help couples determine the odds that their children will have genetic disorders
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
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Tests for Identifying Carriers
• For a growing number of diseases, tests are available that identify carriers and help define the odds more accurately
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
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Fetal Testing
• In amniocentesis, the liquid that bathes the fetus is removed and tested
• In chorionic villus sampling (CVS), a sample of the placenta is removed and tested
• Other techniques, such as ultrasound and fetoscopy, allow fetal health to be assessed visually in utero
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
Video: Ultrasound of Human Fetus IVideo: Ultrasound of Human Fetus I
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Fig. 14-18
Amniotic fluidwithdrawn
Fetus
Placenta
Uterus Cervix
Centrifugation
Fluid
Fetalcells
Severalhours
Severalweeks
Severalweeks
(a) Amniocentesis (b) Chorionic villus sampling (CVS)
Severalhours
Severalhours
Fetalcells
Bio-chemical
tests
Karyotyping
Placenta Chorionicvilli
Fetus
Suction tubeinsertedthroughcervix
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About 1-4% of DNA in Modern Europeans and Asians was inherited from Neanderthals
Ozzy Osbourne's Genome Reveals Some Neanderthal Lineage
http://www.scientificamerican.com/article.cfm?id=ozzy-osbourne-genome
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You should now be able to:
1. Define the following terms: true breeding, hybridization, monohybrid cross, P generation, F1 generation, F2 generation
2. Distinguish between the following pairs of terms: dominant and recessive; heterozygous and homozygous; genotype and phenotype
3. Use a Punnett square to predict the results of a cross and to state the phenotypic and genotypic ratios of the F2 generation
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings
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4. Explain how phenotypic expression in the heterozygote differs with complete dominance, incomplete dominance, and codominance
5. Define and give examples of pleiotropy and epistasis
6. Explain why lethal dominant genes are much rarer than lethal recessive genes
7. Explain how carrier recognition, fetal testing, and newborn screening can be used in genetic screening and counseling
Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings