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MCB Phys-Biochem
MCB Physiology
| Question | Answer |
|---|---|
| Histones | Nucleosome=H2A, 2B, 3, 4. H1 is solo & ties nucleosomes. Hetero: Condensed, inactive chromatin. Eu: Less condensed, active chromatin. |
| Purines | 2 Rings. Guanine & Adenosine. Requires Gly, Glut, Asp AAs from IMP precursor. Guanine has a Ketone. |
| Pyrimidine | 1 Ring. Cytosine, Thymidine (methyl), Uracil. Orotate+ PRPP. |
| Nucelotide v. Nucleoside | -side: Base + ribose. –tide: Base + ribose + Pi |
| Transition v. Transversion | Transition: purine -> purine. Transversion: purine/pyrimidine -> pyrimidine/purine |
| Unambiguous, Degenerate/Redundant, Commaless/Non-overlapping, Universal | Know it. Exceptions to universal code: Mitochondiria, archaebacteria, mycoplasma, some yeast. |
| Silent Mutation | Same AA due to 3rd base wobble |
| Missense Mutation | AA change |
| Nonsense Mutation | AA-> Stop Codon (UGA, UAA, UAG) |
| DNA Gyrase | Prokaryote-only Topoisomerase. |
| DNA Pol I, DNA Pol III, Primase | DNA Pol I: Replaces RNA primer w/ DNA. DNA Pol III: Starts on a primer, 5-3 Polymerization 3-5. PRIMASE: Makes RNA Primer. |
| Nucleotide excision repair | Endonucleases rip out portion of strand containing damaged bases. DNA pol & Ligase clean it up. Mutated in Xeroderma pigmentosum |
| Base Excision Repair | DNA Glycosylase recognizes mutant base & pulls it off the backbone, AP Endonuclease IDs the baseless site & cleaves the backbone to be replaced by a POL. |
| Mismatch Repair | Mutated in HNPCC |
| DS Break Repair | Non-homologous end-joining |
| Protein Polymerization | N to C |
| Start & Stop Codons | Start: AUG-> methionine (eukaryotes), formyl-Met (prokaryotes). STOP: UAA, UAG, UGA. |
| Promoter Sequence | Where DNA Pol +/- some transcription factors bind in front of gene (includes TATA boxes) |
| Enhancer Sequence | Where transcription factors bind (anywhere) |
| Silencer Sequence | Where negative regulators/repressors bind. |
| RNA Pol I, II, & III | In eukaryotes only. RNA Pol I: rRNA. RNA Pol II: mRNA (inhibited by alpha-amantin in shrooms) RNA Pol III: tRNA. Prokaryotes have 1 RNA Pol that does it all. |
| RNA Processing | heterogenous nuclear RNA (hnRNA) 5’Cap: Methyl-Guanosine; 3’ Poly A Tail (mRNA) |
| Spliceosome | snRNPs. Consider alternative splicing (beta-thalassemia mutation) |
| tRNA | 3’ end has CCA sequence & is where AA binds. Charged by Aminoacyl-tRNA synthase (2 ATP) |
| Ribosome | Eu [60S + 40S-> 80s]. Pro [50s + 30s -> 70s]. Activated by GTP hydrolysis, IFs. A Site(Accepts tRNA), P Site (Peptide elongation), E site (Empty tRNA). Polymerization requires 2 GTP/AA added. |
| Protein Trimming | Cleave N or C peptides to activate zymogens/pro-enzyme |
| G1-> S Regulation | Buided by Rb & p53. |
| Nissl Bodies | Synthesize secretory enzymes in neurons |
| SER | Steroid synthesis & chemical detox, lot of SER in liver & steroid-producing cells. |
| Golgi Protein Modification | adds O-oligosaccharides to Serine & Threonine, modifies N-oligosaccharides on asparagines. Addition of M6P -> lysosome. COP I: golgi -> ER. COP II RER-> golgi. Clathrin: Golgi -> everywhere but ER. |
| Drugs that act on microtubules | Mebendazole/Thiabendazole (helminth), Pacitaxel (BRCA), Griseofulvin (Antifungal), Vincristine/Vinblastine (Cancer), Colchicine (gout). Cheidak-Higashi: polymerization defect-> less phagocytosis. |
| Phosphatidylcholine | RBC membrane, myelin, bile, surfactant. |
| Vimentin Stain | Connective tissue |
| Desmin Stain | Muscle |
| GFAP Stain | Neuroglia |
| Type 1 Collagen | Most abundant protein in body. bONE, tendon, Skin, dentin, fascia , cornea. |
| Type 2 Collagen | Cartilage, nucleus pulposus |
| Type 3 Collagen | AKA reticulin. Skin, blood vessels, uterus, fetus, granulation tissue |
| Type 4 Collagen | Basement membrane/Basal lamina |
| Pre-Secretory Collagen Synthesis | 1) Synthesis in RER: Preprocollagen (Glycine + Proline/Hydroxylproline/Hydroxylysine) 2) Hydroxylation of non-gly AAs in ER (vitamin C-dependent) 3) Glycosylation of lysine in ER: (Osteogenesis Imperfecta) -> pro-collagen |
| Post-Secretory Collagen Synthesis | 4) Secretion + cleavage of terminal procollagen-> tropocollagen 5) Lysyl oxidase cross-links lysine & hydroxylysine (Ehlers-Danlos). |
| Ehlers Danlos Syndrome | Type III Collagen. Hyperextensible skin, bleeding, hypermobile joints. Variable inheritance & forms. |
| Osteogenesis Imperfecta | Most are AD Collagen 1 synthesis disorder. Col1A1 & A2. Type 2 is in-utero fatal. Multiple fractures, blue sclera, hearing loss (bones), dental imperfections. |
| Elastin | Lungs, large arteries, ligaments, vocal cords. Lots o’ proline, glycine. Fibrillin is scaffolding protein. Marfan: Fibrillin defect. Alpha1 antitrypsin: inhibits elastase. |
| Glycolysis Result | 32 ATP in heart & liver (malate-aspartate shuttle), 30 ATP via G3P shuttle in muscle. |
| NADPH | Generated by HMP shunt. Use: steroid & FA synthesis (anabolic processes), P-450, respiratory bursts: |
| NAD+ | Catabolic processes |
| Hexokinase & Glucokinase | Irreversible 1st step of glycolysis. HEXOKINASE: ubiquitous. high affinity & low Vmax, feedback inhibited by G6P, insulin. GLUCOKINASE: pancreatic beta cells & liver. Induced by insulin. Low affinity & high Vmax & sequesters glucose. |
| Enzyme-Deficiency Hemolytic Anemia | LOF Pyruvate kinase >> Phosphoglucose Isomerase. RBCs can’t do anaerobic metabolism -> no Na/K ATPase -> cell lysis. |
| Pyruvate DeH & Alpha Ketoglutarate DeH Complexes | Co-Factors: B1,2,3,5, Lipoic Acid. Arsenic --| Lipoic Acid -> -> Vomiting, rice water stools, garlic breath. B1 Def-> ->ATP depletion -> SM relaxation -> High output cardiac failure. |
| Pyruvate DeH Deficiency | Pyruvate & Alanine backup -> Lactic Acidosis & neuro defects. Congenital or acquired (alcoholic B1 deficiency). Tx: High ketogenic diet (Fat, and lysine & Leucine) |
| Regions of Anaerobic Glycolysis | RBCs, Leukocytes, Kidney medulla, Lens, Testes, cornea. |
| Ox Phos Poisons | Electron Transport Inhibitors: CN, CO, Antimycin A, Rotenone. ATPase Inhibitors: Oligomycin. Uncouplers: 2,4 DNP, Aspirin, thermogenin in brown fat. |
| Incomplete Penetrance v. Variable Expression | Incomplete penetrance: binary phenotype of a given genotype. Variable Expression: phenotype is along a spectrum |
| Pleiotropy | Multiple genes affect a phenotype |
| Dominant Negative Mutation | Normal allele is disrupted by mutant allele (ie- Osteogenesis Imperfecta) |
| Locus heterogeneity | Mutations at different loci can produce the same phenotype (ie-albinism) |
| Heteroplasmy | Presence of normal & mutated mtDNA-> variable expression patterns in mitochondrial diseases |
| Uniparental disomy | 2 copies of a chromosome from 1 parent, 0 from the other. |
| Imprinting | 1 of 2 genes is permanently inactivated by methylation. Prader-Willi: Deletion of normally active paternal. Angelman: Deletion of normally active maternal allele. |
| APKD1 | Chromosome 16. AD |
| Von Hippel Lindau | AD. Hemangioblastomas, renal cell carcinoma. VHL gene deletion (Ch 3) |
| Huntington’s Disease | AD. Reduced GABA & ACh. Chromosome 4. |
| Familial Adenomatous Polyposis | AD. Adenomatous polyps in colon by puberty->-> colon cancer. Chromosome 5 Del (# in “polyp”) |
| Achondroplasia | AD. Fibroblast GF receptor 3 LOF-> dwarfism, short limbs, normal trunk. Assoc. w/ advanced paternal age. |
| Things I don’t know about CF | Chromosome 7. Def. of fat-soluble vitamins (ADEK), N. Acetylcysteine loosens mucous plugs. Meconium ileus in newborns |
| X-Recessive Diseases that I don’t know | Bruton’s Agammaglobulinemia, Wiskott-Aldrich Syndrome, G6PD def, Ocular albinism, . Lesch-Nyhan Syndrome, Fabry’s Disease, Hunter’s Syndrome |
| Fragile X Syndrome | CGG repeat -> overmethylation of the region -> inactivation of FMR1 gene -> #2 cause of MR, Macro-orchidism… |
| Myotonic Dystrophy | Myotonic grip, balding, cataracts, testicular atrophy. Trinucleotide repeat -> sequesters splicing factors -> deficiency in other gene expression. |
| Edward’s Syndrome | Prominent occiput, small jaw, low ears, clenched hands, rocker bottom-feet. Trisomy 18 (Election age). Severe MR, <1 yr life expectancy. |
| Patau’s Syndrome | Micropthalmia, microcephaly, cleft lip/palate, polydactyly, rocker-bottom feet. Trisomy 13 (Puberty age). Severe MR & <1yr life expectancy. |
| PerIcentric v. ParAcentric Chromosomal Inversion | ParIcentric: involves centromere, can go through meiosis. ParAcentric: Doesn’t involve centromere, doesn’t go through meiosis |
| Cri-du-chat Syndrome | Chromosome 5 arm deletion-> MR & Microcephaly, high pitch crying, epicanthal folds, cardiac probs. |
| 22q11 Syndrome | DiGeorge: thymic aplasia, heart defects, hypocalcemia. Velocardiofacial Syndrome: Cleft palate, abnormal facies, heart defects |
Created by:
Kyle Tiemeier
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