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phase1 Rhona, Tom, Emily

IMMS 1. phase1 Rhona, Tom, Emily. The Peer Teaching Society is not liable for false or misleading information…. aims. Cover basic information form IMMS Cover things likely to come up in exams Look at areas where there is often confusion.

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phase1 Rhona, Tom, Emily

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  1. IMMS 1 phase1 Rhona, Tom, Emily The Peer Teaching Society is not liable for false or misleading information…

  2. aims • Cover basic information form IMMS • Cover things likely to come up in exams • Look at areas where there is often confusion The Peer Teaching Society is not liable for false or misleading information…

  3. introduction • Cells • Homeostasis • Molecular Building Blocks • DNA and RNA • Mitosis and Meiosis • Genetic Diseases The Peer Teaching Society is not liable for false or misleading information…

  4. Cells The Peer Teaching Society is not liable for false or misleading information…

  5. Cytoskeleton • Microtubules- tubulin • Microfilaments- Actin • Intermediate filaments- desmosomes The Peer Teaching Society is not liable for false or misleading information… • Microtubules- tubulin • Microfilaments- Actin • Intermediate filaments- desmosomes

  6. Membrane • Phosholipids: • Sphingophospholipids • Glycerophospholipids • Cholesterol- membrane fluidity and signalling system • Glycolipids The Peer Teaching Society is not liable for false or misleading information…

  7. Function of cell membrane • Physical boundary • Regulation of substance movement • Receptors for cell to cell signalling • Attachment to extracellular matrix The Peer Teaching Society is not liable for false or misleading information…

  8. Membrane proteins • Receptors • Enzymes • Transport proteins • Cell adhesion molecules The Peer Teaching Society is not liable for false or misleading information…

  9. Movement across membrane The Peer Teaching Society is not liable for false or misleading information…

  10. Homesostasis • Control of internal body environment • Autocrine • Paracrine • Endocrine The Peer Teaching Society is not liable for false or misleading information…

  11. Water • 60% of body weight 40 intracellular 20 extra • Extracellular: interstitial, plasma, transcellular (digestive) • Regulation: Vasopressin The Peer Teaching Society is not liable for false or misleading information…

  12. Definitions • Osmosis: is the spontaneous net movement of solvent molecules through a semi-permeable membrane into a region of higher solute concentration • Osmolality: The amount of solute in a solution • Oncotic pressure: Pressure exerted on water movement by solute The Peer Teaching Society is not liable for false or misleading information…

  13. Molecular building blocks The Peer Teaching Society is not liable for false or misleading information…

  14. Protein structures • Primary: linking of amino acids • Secondary: alpha helix's, beta sheets (H bonds) • Tertiary: Interactions between side chains • Quaternary: joining of polypeptides The Peer Teaching Society is not liable for false or misleading information…

  15. DNA and RNA The Peer Teaching Society is not liable for false or misleading information…

  16. Features of DNA Degenerate Almost universal Unambiguous Non-overlapping

  17. DNA Replication Semi-conservative Enzymes: • Topoisomerase • Helicase • DNA polymerase • DNA ligase Okazaki fragments The Peer Teaching Society is not liable for false or misleading information…

  18. Transcription and Translation DNA (gene) Nucleus Transcription mRNA mRNA Ribosome Translation Protein

  19. Introns and Exons Introns are non-coding regions Exons are coding regions

  20. Codons and mistakes Start codon: AUG Stop codons: UAG, UGA, UAA Single nucleotide polymorphism can result in… • Mis-sense: Codes for a different aa • Non-sense: Doesn’t code for an aa. Acts as a stop codon

  21. Mitosis and Meiosis Mitosis: Cell division in which two identical daughter cells are produced Meiosis: Cell division in which the chromosome number is halved

  22. Mitosis: Cell cycle

  23. Mitosis: Stages PMAT Prophase (Prometaphase) Metaphase Anaphase Telophase

  24. Mitosis: Stages Prophase: Chromatin condenses to chromosomes Prometaphase: Nuclear membrane disintegrates. Chromosomes attach to microtubules

  25. Mitosis: Stages Metaphase: Chromosomes line-up on equatorial plate Anaphase: Sister chromatids are separated and pass to opposite poles

  26. Mitosis: Stages Telophase: Nuclear membranes form, chromosomes unfold Cytokinesis: Cell divides

  27. Mitosis under the microscope

  28. Meiosis • PMA(T) X2 • Meiosis 1 • Where chromosome number is halved • Crossing-over between non-sister chromatids (M1) • Meiosis 2 • Sister chromatids separate • Haploid cells produced

  29. Meiosis Genetic diversity • Crossing over between non-sister chromatids • Random assortment on metaphase plate

  30. Gametogenesis Gametogenesis: Formation of haploid gametes in precursor cells (in testes/ovaries) Differences between sexes: • Male: Meiotic division starts at puberty • Female: Meiosis 1 completed at ovulation, Meiosis 2 if fertilisation occurs

  31. Gametogenesis Mendel's second law (Law of independent assortment): Alleles of one gene sort into gametes independently of the alleles of another gene

  32. Gonadal Mosaicism Gonadal mosaicism: mutation in primordial germ cell. All gametes from it are affected Mother

  33. Genetic Diseases • Phenotype = The appearance of an individual resulting from interaction of the environment and genotype • Genotype = The genetic constitution of an individual The Peer Teaching Society is not liable for false or misleading information…

  34. Autosomal Dominant • Manifests in heterozygous state • Both males and females are effected equally • 50% chance of inheriting disorder • e.g. Achondroplasia, Marfan syndrome, Huntington’s disease The Peer Teaching Society is not liable for false or misleading information…

  35. Sex Linked • Males = XY Females = XX • X linked genes never pass from father to son • Males can never be carriers • X linked Dominant: • Expressed and transmitted by both sexes • Occurs twice as frequently in females as males • Difficult to distinguish from AD • e.gHypophostphataemia rickets • X linked Recessive : • More males than females show the phenotype • Affected male would usually have no effected offspring but all the daughters would be carriers • e.g Haemophilia, Duchenne muscular dystrophy The Peer Teaching Society is not liable for false or misleading information…

  36. Sex Linked The Peer Teaching Society is not liable for false or misleading information…

  37. Lyonization • Process of x chromosome inactivation • One of the two X chromosomes in every cell in a female is randomly inactivated early in embryonic development. • Via methylation The Peer Teaching Society is not liable for false or misleading information…

  38. Knudson’s 2 Hit Hypothesis The Peer Teaching Society is not liable for false or misleading information…

  39. Multifactorial Disease The Peer Teaching Society is not liable for false or misleading information…

  40. Quiz Time The Peer Teaching Society is not liable for false or misleading information…

  41. Quiz Time The Peer Teaching Society is not liable for false or misleading information…

  42. Quiz Time The Peer Teaching Society is not liable for false or misleading information…

  43. The end! Thank you for listening! We are happy to answer any questions by email/arrange to meet: TAtkinson2@sheffield.ac.uk rmcmillan1@sheffield.ac.uk The Peer Teaching Society is not liable for false or misleading information…

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