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Chapters 11 Reading
10.911.1, 11.2, 11.10, 11.12, 11.15, 11.17, 11.18, 11.19, 11.20, 11.2123.1527.9, 27.10, 27.11, 27.12
Important Concepts
Molecular Biology of the Gene(Molecular Genetics)
Regulation of gene expressionDevelopmental biologyGene regulation in developmentCloningStem cellsCancerX chromosome inactivation
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Egg Cell and Sperm Cells
Pg. 661
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8 cell Embryo (morula)
“Cleavage” Divisions
50 µm
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Blastocycst
Uterus
BlastocystInner Cell Mass (ICM)
50 µmTrophoblast
Blastocoel
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Drosophila melanogaster (a.k.a. Fruit Fly)
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Antennapedia Mutant
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Normal Eye Phenotype
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Pax6 Mutant Phenotype
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Drosophila melanogaster (a.k.a. Fruit Fly)
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Expression of Pax6 Gene in Leg Precursor Cells
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Expression of Pax6 Gene in Wing Cells
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Aniridia Results from Mutation of Human Pax6 Gene
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HoxD13 mutation
Synpolydactyl Phenotype
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Cloning in Nature
Parthenogenesis Monozygotic twins(embryo splitting)
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Mammals Cloned by SCNT
SheepMouseCattlePigMule
“Dolly”
“Copy Cat”
HorseGoatRabbitCatDogGaur
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Removal of genetic material from egg (enucleated egg)
Transfer of diploid nucleusfrom adult somatic cell or Embryonic cell into“enucleated” egg
Cleavage divisions of“reconstructed” embryo
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Copy Cat Somatic cell donor“mom”
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Stem Cell Concept
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Potential Stem Cell Treatments
Neurodegenerative diseases (Alzheimer’s, Parkinson’s, Huntington’s diseases)
Osteoporosis
Type I diabetes
Blindness
Deafness
Heart damage
Spinal cord injury
Regenerative Medicine
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Pluripotent Stem Cells Without Embryos?
November 20, 2007
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Tissues with Adult Stem Cells
Bone marrow/peripheral blood/umbilical cordBlood vesselsBrain/spinal cordSkeletal muscleColonLiverPancreasRetina/corneaSkinDental pulp
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Bone Marrow Stem Cells andBlood Cell Formation
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Disease Treated with Bone Marrow Stem Cell Therapy
Leukemia
Lymphoma
Sickle cell anemia and other “hemoglobinopathies”
Adrenoleukodystrophy
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X Chromosome
Female Male
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X Chromosome Inactivation
Female Male
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Anhidrotic Ectodermal Dysplasia
Skin patches that do not form sweat glands
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Tumor Progression
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ColonizeNew Tissues
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Lymphoma with brain, chest and spleen involvement
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Tumor Growth
(~ 100 days/ pop doubling)
(~ 7.5 years)
(~ 8 years)
(~ 10 years)
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Cancer Critical GenesDNA repair
XP Genesp53MSHBRCA1,2
Apoptosis (Cell Death)Bcl-2, Bcl-XL (anti-apoptotic)
Cell Cycle ControlRasGrowth FactorsReceptor Tyrosine KinasesTranscription FactorsCyclinsCDKsRB1p53
Cell MigrationCell-Cell AdhesionExtra-Cellular Matrix degradation
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Figure 20.10b
Sporadic Retinoblastoma
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Figure 20.10a
Familial Retinoblastoma
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Cancer Cells are Immortal
HeLa Cells Harvested from a cervical cancer in 1951
Growing in hundreds of labs since 1951
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Chapters 12 Reading
12.1, 12.2, 12.6, 12.7, 12.8, 12.9, 12.10, 12.11, 12.13, 12.14, 12.15, 12.16
Important Concepts
DNA Technology
DNA extractionRestriction enzymesGel electrophoresis Genetic testing (how it works)DNA profiling (DNA Fingerprinting)Paternity testingGene CloningGenetically modified organisms
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Animal cellsPlant cellsFungiProtozoaBacteria
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~ 48,000 base pairs of DNA
Scanning electron micrograph
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Agarose Gel Electrophoresis
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(Negative)
(Positive)
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Genetic TestingDisease-related Diagnosis
Current diseaseRisk of future diseaseCarrier status
PharmacogenomicsEfficacy of therapeutic drug treatment
Tissue TypingTransplantation
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ATG GTG CAC TTG ACC CCC GAG GAG
met - val - his - leu - thr - pro - glu - glu
5’ 3’
(N) (C)
ATG GTG CAC TTG ACC CCC GTG GAG
met - val - his - leu - thr - pro - val - glu
5’ 3’
(C)(N)
HbA
HbS
Molecular Basis of Sickle-Cell Allele
Hb-A
Hb-S
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HbS
HbA
MstII cut sites
RFLP for Hb Alleles
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GTCTAG GTCTAG GTCTAGCAGATC CAGATC CAGATC
GTCTAG GTCTAG GTCTAG GTCTAG CAGATC CAGATC CAGATC CAGATC
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Analysis of an STR LocusIn Six Individuals
1 52 3 4 6
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DNA Profile Database of the FBI
13 STR Loci
4,760,000 DNA Profiles in database
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Transgenic Crops
Corn Insect resistance
Cotton Insect resistance
Rice Vitamin A
Soybean Herbicide resistance
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Therapeutic proteinToxic protein
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Chapters 13 Reading
13.1, 13.2, 13.3, 13.4, 13.5, 13.6, 13.7, 13.8, 13.9, 13.10, 13.11, 13.13, 13.14, 13.15, 13.17
Important Concepts
How Populations Evolve
Populations and SpeciesMicroevolutionMacroevolution (speciation)Natural selectionHardy-Weinberg EquationNon-adaptive mechanisms of evolutionEvidence for evolution
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Multi-Drug Resistant Staphylococcus aureus