The flashcards below were created by user
shosh114
on FreezingBlue Flashcards.
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Heterochromatin
- Tightly packed
- Present during mitosis
- Associated with methylated DNA
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Euchromatin
- Usely packed
- Transcribed
- Associated with acetylated histones
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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)
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Adenosine deaminase deficiency
- Defective purine salvage pathway results in excess ATP, which inhibits ribonucleotide reductase (needed for purine synthesis)
- SCIDs
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Lesch-Nyhan syndrome
- HGPRT deficiency results in defective purine salvage pathway
- Excess uric acid production --> gout
- Retardation, self-mutilation, choreoathetosis
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Xeroderma pigmentosum
- Defective nucleotide excision repair (thymidine dimers)
- Skin cancer
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HNPCC
Defective mismatch repair
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Aminoacyl tRNA synthetase
Checks that the right AA is attached to the tRNA
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Powers initiation of protein synthesis
GTP
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Direction of-
mRNA reading
Protein synthesis
- mRNA--5-->3
- Proteins--N-->C
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Rb
Inhibits G1-->S transition
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p53
Codes for p21, which inhibits the cyclin-CDK complex that allows the cell to progress from G1 to S
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RER
Site of secretory protein synthesis and N glycosylation
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SER
- Site of steroid hormone synthesis and drug detox
- Hepatocytes and adrenocortical cells have a lot of SERs
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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
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Chediak-Higashi
- Defective microtubule polymerization
- Impaired phagocytosis
- Albinism, peripheral neuropathy
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Kartagener's Syndrome
- Mutant dynein impairs cilia
- Infertility
- Bronchiectasis
- Recurrent sinus infections
- Associated with situs inversus
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Cytokeratin
Stain for epithelial cells
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GFAP
Stain for glial cells
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Ehlers-Danlos
- Defective extracellular collagen cross-linking
- Hyperextensible skin, bleeding, hypermobile joints
- Associated with Berry aneurysms
- Type III collagen is affected worst
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Osteogenesis imperfecta
- Defective glycosylation of type I collagen
- AD
- Mutliple fractures
- Blue sclera
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Alport's syndrome
- Abnormal type IV collagen (BM)
- XR
- Hereditary nephritis and deafness
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Marfan's
Defective fibrillin
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