shosh: cell bio

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shosh114
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92690
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shosh: cell bio
Updated:
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
    GTP
  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

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