shosh: cell bio

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shosh: cell bio
2011-07-01 17:19:32

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  1. Heterochromatin
    • Tightly packed
    • Present during mitosis
    • Associated with methylated DNA
  2. Euchromatin
    • Usely packed
    • Transcribed
    • Associated with acetylated histones
  3. Orotic acid
    • Precursor of purine synthesis
    • Elevated in OTC deficiency (defective urea cycle) and orotic aciduria (inability to convert orotic acid to dUMP, presents with megaloblastic anemia)
  4. Adenosine deaminase deficiency
    • Defective purine salvage pathway results in excess ATP, which inhibits ribonucleotide reductase (needed for purine synthesis)
    • SCIDs
  5. Lesch-Nyhan syndrome
    • HGPRT deficiency results in defective purine salvage pathway
    • Excess uric acid production --> gout
    • Retardation, self-mutilation, choreoathetosis
  6. Xeroderma pigmentosum
    • Defective nucleotide excision repair (thymidine dimers)
    • Skin cancer
  7. HNPCC
    Defective mismatch repair
  8. Aminoacyl tRNA synthetase
    Checks that the right AA is attached to the tRNA
  9. Powers initiation of protein synthesis
  10. Direction of-
    mRNA reading
    Protein synthesis
    • mRNA--5-->3
    • Proteins--N-->C
  11. Rb
    Inhibits G1-->S transition
  12. p53
    Codes for p21, which inhibits the cyclin-CDK complex that allows the cell to progress from G1 to S
  13. RER
    Site of secretory protein synthesis and N glycosylation
  14. SER
    • Site of steroid hormone synthesis and drug detox
    • Hepatocytes and adrenocortical cells have a lot of SERs
  15. Golgi
    • Directs proteins to the cell membrane, lysosomes, or extracellular environment, via COP I, COP II, or clathrin coats
    • Modification of N glycosylation
    • Mannose-6-P addition to lysosomal enzymes (defective in I-cell disease)
    • O glycosylation
  16. Chediak-Higashi
    • Defective microtubule polymerization
    • Impaired phagocytosis
    • Albinism, peripheral neuropathy
  17. Kartagener's Syndrome
    • Mutant dynein impairs cilia
    • Infertility
    • Bronchiectasis
    • Recurrent sinus infections
    • Associated with situs inversus
  18. Vimentain
    Stain for CT
  19. Desmin
    Stain for muscle
  20. Cytokeratin
    Stain for epithelial cells
  21. GFAP
    Stain for glial cells
  22. Ehlers-Danlos
    • Defective extracellular collagen cross-linking
    • Hyperextensible skin, bleeding, hypermobile joints
    • Associated with Berry aneurysms
    • Type III collagen is affected worst
  23. Osteogenesis imperfecta
    • Defective glycosylation of type I collagen
    • AD
    • Mutliple fractures
    • Blue sclera
  24. Alport's syndrome
    • Abnormal type IV collagen (BM)
    • XR
    • Hereditary nephritis and deafness
  25. Marfan's
    Defective fibrillin