Chapters 11 Reading 10.9 11.1, 11.2, 11.10, 11.12, 11.15, 11.17, 11.18, 11.19, 11.20, 11.21 23.15 27.9, 27.10, 27.11, 27.12 Important Concepts Molecular.

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Presentation transcript:

Chapters 11 Reading , 11.2, 11.10, 11.12, 11.15, 11.17, 11.18, 11.19, 11.20, , 27.10, 27.11, Important Concepts Molecular Biology of the Gene (Molecular Genetics) Regulation of gene expression Developmental biology Gene regulation in development Cloning Stem cells Cancer X chromosome inactivation

Egg Cell and Sperm Cells Pg. 661

8 cell Embryo (morula) “Cleavage” Divisions 50 µm

Blastocycst Uterus Blastocyst Inner Cell Mass (ICM) 50 µm Trophoblast 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 Sheep Mouse Cattle Pig Mule “Dolly” “Copy Cat” Horse Goat Rabbit Cat Dog Gaur

Removal of genetic material from egg (enucleated egg) Transfer of diploid nucleus from 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 cord Blood vessels Brain/spinal cord Skeletal muscle Colon Liver Pancreas Retina/cornea Skin Dental pulp

Bone Marrow Stem Cells and Blood Cell Formation

Disease Treated with Bone Marrow Stem Cell Therapy Leukemia Lymphoma Sickle cell anemia and other “hemoglobinopathies” Adrenoleukodystrophy

X Chromosome FemaleMale

X Chromosome Inactivation FemaleMale

Anhidrotic Ectodermal Dysplasia Skin patches that do not form sweat glands

Tumor Progression

Colonize New Tissues

Lymphoma with brain, chest and spleen involvement

Tumor Growth (~ 100 days/ pop doubling) (~ 7.5 years) (~ 8 years) (~ 10 years)

Cancer Critical Genes DNA repair XP Genes p53 MSH BRCA1,2 Apoptosis (Cell Death) Bcl-2, Bcl-X L (anti-apoptotic) Cell Cycle Control Ras Growth Factors Receptor Tyrosine Kinases Transcription Factors Cyclins CDKs RB1 p53 Cell Migration Cell-Cell Adhesion Extra-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, Important Concepts DNA Technology DNA extraction Restriction enzymes Gel electrophoresis Genetic testing (how it works) DNA profiling (DNA Fingerprinting) Paternity testing Gene Cloning Genetically modified organisms

Animal cells Plant cells Fungi Protozoa Bacteria

~ 48,000 base pairs of DNA Scanning electron micrograph

Agarose Gel Electrophoresis

(Negative) (Positive)

Genetic Testing Disease-related Diagnosis Current disease Risk of future disease Carrier status Pharmacogenomics Efficacy of therapeutic drug treatment Tissue Typing Transplantation

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) Hb A Hb S Molecular Basis of Sickle-Cell Allele Hb-A Hb-S

Hb S Hb A MstII cut sites RFLP for Hb Alleles

GTCTAG GTCTAG GTCTAG CAGATC CAGATC CAGATC GTCTAG GTCTAG CAGATC CAGATC

Analysis of an STR Locus In Six Individuals

DNA Profile Database of the FBI 13 STR Loci 4,760,000 DNA Profiles in database

Transgenic Crops CornInsect resistance CottonInsect resistance RiceVitamin A SoybeanHerbicide resistance

Therapeutic protein Toxic 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, Important Concepts How Populations Evolve Populations and Species Microevolution Macroevolution (speciation) Natural selection Hardy-Weinberg Equation Non-adaptive mechanisms of evolution Evidence for evolution

Multi-Drug Resistant Staphylococcus aureus