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Chapters 11 Reading. Molecular Biology of the Gene (Molecular Genetics). 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. Regulation of gene expression Developmental biology Gene regulation in development
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Chapters 11 Reading Molecular Biology of the Gene (Molecular Genetics) 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 Regulation of gene expression Developmental biology Gene regulation in development Cloning Stem cells Cancer X chromosome inactivation
Egg Cell and Sperm Cells Pg. 661
50 µm “Cleavage” Divisions 8 cell Embryo (morula)
50 µm Blastocycst Uterus Inner Cell Mass (ICM) Blastocyst Blastocoel Trophoblast
Expression ofPax6Gene in Leg Precursor Cells
Expression ofPax6Gene in Wing Cells
Synpolydactyl Phenotype HoxD13 mutation
Cloning in Nature Parthenogenesis Monozygotic twins (embryo splitting)
Mammals Cloned by SCNT Horse Goat Rabbit Cat Dog Gaur Sheep Mouse Cattle Pig Mule “Dolly” “Copy Cat”
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
Somatic cell donor “mom” Copy Cat
Regenerative Medicine Potential Stem Cell Treatments Neurodegenerative diseases (Alzheimer’s, Parkinson’s, Huntington’s diseases) Osteoporosis Type I diabetes Blindness Deafness Heart damage Spinal cord injury
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 Female Male
X Chromosome Inactivation Female Male
Anhidrotic Ectodermal Dysplasia Skin patches that do not form sweat glands
Colonize New Tissues
Tumor Growth (~ 10 years) (~ 8 years) (~ 7.5 years) (~ 100 days/ pop doubling)
Cancer Critical Genes Cell Cycle Control DNA repair Ras Growth Factors Receptor Tyrosine Kinases Transcription Factors Cyclins CDKs RB1 p53 XP Genes p53 MSH BRCA1,2 Apoptosis (Cell Death) Cell Migration Bcl-2, Bcl-XL (anti-apoptotic) Cell-Cell Adhesion Extra-Cellular Matrix degradation
Sporadic Retinoblastoma Figure 20.10b
Familial Retinoblastoma Figure 20.10a
Cancer Cells are Immortal HeLa Cells Harvested from a cervical cancer in 1951 Growing in hundreds of labs since 1951
Chapters 12 Reading DNA Technology 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 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
(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 5’ 3’ met - val - his - leu - thr - pro - glu - glu (C) (N) ATG GTG CAC TTG ACC CCC GTG GAG 3’ 5’ met - val - his - leu - thr - pro - val - glu (N) (C) Molecular Basis of Sickle-Cell Allele HbA Hb-A HbS Hb-S
RFLP for Hb Alleles HbS HbA MstII cut sites
GTCTAG GTCTAG GTCTAG CAGATC CAGATC CAGATC GTCTAG GTCTAG GTCTAG GTCTAG CAGATC CAGATC CAGATC CAGATC