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

Egg Cell and Sperm Cells

Pg. 661

8 cell Embryo (morula)

“Cleavage” Divisions

50 µm

Blastocycst

Uterus

BlastocystInner Cell Mass (ICM)

50 µmTrophoblast

Blastocoel

(~ 9 weeks)

Drosophila melanogaster (a.k.a. Fruit Fly)

Bithorax Mutant

Antennapedia Mutant

Normal Eye Phenotype

Pax6 Mutant Phenotype

Drosophila melanogaster (a.k.a. Fruit Fly)

Expression of Pax6 Gene in Leg Precursor Cells

Expression of Pax6 Gene in Wing Cells

Aniridia Results from Mutation of Human Pax6 Gene

HoxD13 mutation

Synpolydactyl Phenotype

Cloning in Nature

Parthenogenesis Monozygotic twins(embryo splitting)

Mammals Cloned by SCNT

SheepMouseCattlePigMule

“Dolly”

“Copy Cat”

HorseGoatRabbitCatDogGaur

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

Copy Cat Somatic cell donor“mom”

Stem Cell Concept

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

Pluripotent Stem Cells Without Embryos?

November 20, 2007

Tissues with Adult Stem Cells

Bone marrow/peripheral blood/umbilical cordBlood vesselsBrain/spinal cordSkeletal muscleColonLiverPancreasRetina/corneaSkinDental pulp

Bone Marrow Stem Cells andBlood Cell Formation

Disease Treated with Bone Marrow Stem Cell Therapy

Leukemia

Lymphoma

Sickle cell anemia and other “hemoglobinopathies”

Adrenoleukodystrophy

X Chromosome

Female Male

X Chromosome Inactivation

Female Male

Anhidrotic Ectodermal Dysplasia

Skin patches that do not form sweat glands

Tumor Progression

ColonizeNew Tissues

Lymphoma with brain, chest and spleen involvement

Tumor Growth

(~ 100 days/ pop doubling)

(~ 7.5 years)

(~ 8 years)

(~ 10 years)

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

Figure 20.10b

Sporadic Retinoblastoma

Figure 20.10a

Familial Retinoblastoma

Cancer Cells are Immortal

HeLa Cells Harvested from a cervical cancer in 1951

Growing in hundreds of labs since 1951

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

Animal cellsPlant cellsFungiProtozoaBacteria

~ 48,000 base pairs of DNA

Scanning electron micrograph

Agarose Gel Electrophoresis

(Negative)

(Positive)

Genetic TestingDisease-related Diagnosis

Current diseaseRisk of future diseaseCarrier status

PharmacogenomicsEfficacy of therapeutic drug treatment

Tissue TypingTransplantation

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

HbS

HbA

MstII cut sites

RFLP for Hb Alleles

GTCTAG GTCTAG GTCTAGCAGATC CAGATC CAGATC

GTCTAG GTCTAG GTCTAG GTCTAG CAGATC CAGATC CAGATC CAGATC

Analysis of an STR LocusIn Six Individuals

1 52 3 4 6

DNA Profile Database of the FBI

13 STR Loci

4,760,000 DNA Profiles in database

Transgenic Crops

Corn Insect resistance

Cotton Insect resistance

Rice Vitamin A

Soybean Herbicide resistance

Therapeutic proteinToxic protein

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

Multi-Drug Resistant Staphylococcus aureus