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Seabury 3
| Question | Answer |
|---|---|
| constitutive | a gene that is on all the time and thus does not respond much to the environment |
| inducible | enzymes are produced only if substrate is present (e.g. lac) |
| repressing | if the substrate exists, no need to produce the enzyme (e.g. tryptophan) |
| negative control | gene expression (GE) occurs unless regulator molecule shuts it off |
| positive control | GE occurs only if regulator directly stimulates it (CAP/cAMP in lac operon) |
| I+ gene in lac operon | needed for lock-and-key fit of repressor and operator; if bacteria is I-, lac genes will undergo transcription/translation WITHOUT lactose constitutive |
| O+ gene in lac operon | affects repressor chape; if gene is mutated (Oc), then no lock-and-key fit --> makes enzymes w/o lactose |
| I^s mutation in lac operon | causes the inducer to lack lactose binding site --> doesn't make enzymes repressed |
| effect of glucose on lac operon | represses lac operon by CAP-cAMP complex binding at promoter inducible condition cAMP exerts positive control |
| tryptophan operon | attenuator biosynthesis when trp absent, the cell needs to make it |
| cellular localization pattern | where the protein goes after it is produced |
| Dscam gene | encodes protein that giudes axon growth, uses alt. splicing |
| types of regulatory RNA | short RNA RNA interference, RNAi (animals) post transcriptional gene silencing, PTGS (plants) short interfering RNA, siRNA (plants) |
| short RNA | regulates CYTOPLASMIC gene expression by repressing translation or degrading mRNA |
| post transcriptional gene silencing (PTGS, plants) | dsRNA is cut every 21 nucleotides by DICER to make short interfering RNA (siRNA), which unwinds to sense and antisense strands; the antisense strand combines with a protein coplex (RISC), which recognizes, binds, and cleaves mRNA |
| microRNA | ssRNA that binds w/ internal or 3' untranslated mRNA and either -blocks translation -targets RNA for degradation |
| cyclin | a protein that checks conformation before cell enters next phase of cell cycle cyclin B must be bound to CDK1 for mitosis to continue |
| G1/S | CDK4-cyclin D |
| G2/M | CDK1-cyclin B |
| tumor suppressor genes | halt passage through cell cycle |
| proto-oncogenes | promote cell division |
| RB1 | retinoblastoma 85% of those born with mutation get it (fam) 55-60% who develop mutation -> tumor (sporadic) |
| TF, EF2 | normally tell cell to stop, but in mutated form, cell cycle always on -->retinoblastoma |
| WT1 | Wilms tumor gene kidney cancer, child gene on HSA11p encodes TF |
| p53 | tumor suppressor gene TF for 20 genes normal action shut down by carcinogens negatively regulated by MDM2 Li-Fraumeni disease |
| BRCA1-HSA17 | predisposition inherited as a dominant trait 85% w/ one mutation develop another increased risk of breast and ovarian cancer |
| BRCA2-HSA13 | autosomal dominant breast cancer ONLY |
| Rous sarcoma | 1st oncovirus described SRC gene encodes for tyrosine kinase |
| Ras proteins | signal transduction proteins that reg. cell growth/division; transmit extracellular signals to cytoplasm single aa substitution to -> mutation 30% of cancers have mutation |
| HRAS | on chromosome 11 regulates cell division in response to growth factor |
| NRAS | chromosome 1 control of cell growth |
| Philadelphia chromosome | result of reciprocal translocation between 9&22 Chronic Myelogenous Leukemia |
| metalloproteins | encode matrix cutting enzymes for metastasis to occur |
| colon cancer | -benign->malignant (95%) -familial 1.Familial adenomatous polyposis 2.Hereditary non-polyposis colorectal cancer |
| Familial adenomatous polyposis | related genes: FAP, APC, HSA5 slow progression, rapid initiation many polyps |
| Hereditary non-polyposis coleorectal cancer | related genes:HSA2, HSA3, MSH6, MLH3 slow initiation, rapid progression few polyps |
| top cancer killers, men and women | men: lung, prostate, colon/rectum women: lung, breast, colon/rectum |
| solid tumors | derived from epithelium |
| requirements for good vector | -independently replicate -restriction enzyme cleavage site -selectable marker (antibiotic resistance, lac) -easy to recover |
| pUC18 | commonly used plasmid vector has polylinker site, lac Z gene as selectable marker for blue-white screening |
| BACs | Bacterial artificial chromosome 200Kb |
| YACs | yeast artificial chromosome 230-1900Kb |
| Southern blotting | allows us to determine which DNA clones contain the DNA fragment of interest |
| roche 454 pyrosequencing | relies on detection of phosphate release during nucleotide incorporation |
| categories of genomics | -structural -functional -comparative |
| shot-gun sequencing | isolate genome->fragment by sonication->clone fragments into vectors->prepare clone library->clones selected at random and sequenced |
| c-value paradox | genome size (in eukaryotes) does NOT correlate with genome complexity (polyploidic plants) |
| human genome | first discovered by Venter (2007) 50% transposable elements (LINEs, SINEs) |
| chimp vs. us | differences: -indels -regulation of gene expression -recombination hot spots |
| paralogs | arise from single gene duplication in SAME spp |
| orthologs | homologous genes in DIFFERENT spp |
| alpha and betablobin | sequances are similar, reflecting some common elolutionary history |
| HSA 14 | heavy chains |
| HSA2, HSA22 | light chains |
| break-nibble-add mechanism | joining of V (variable region) and J (joining region) is imprecise, subject to adding or removing a few bases (rearranging the gene) |
| proteomic tech | -2D electrophoresis: separate by charge then MW -mass spec |
| FGF-10 | component of signal pathway controlling outgrowth in turtles |
| development, basic | 1. maternal effect genes establish gradient 2. gap genes, pair-rule genes, and segment polarity genes divide organism into segments (determination) 3. homeotic/selector genes specify the identity of each segment (differentiation) |
| runx2 | pair-rule gene mutation in this causes 'runt', cleidocranial dysplasia |
| HOMEOBOX | shared sequence of selector/homeotic genes among many spp. |
| things that activate responsible hox genes | -retinoic acid -fibroblast growth factors -Wnt proteins -bone morphogenic proteins (deer antler) -hedgehog proteins |
| HOX-D13, HSA2q | cause synpolydactyly in humans autosomal dominant |
| HOX-A13 | autosomal imcomplete dominance frameshift |
| PAX | paired box genes nervous system mutations -> cancer, 'splotch', Waardenburg syndrome (autodom) |
| ced 3, 4, 9, 1 bcl2 | cell death genes 3&4 -> cell death in many ways 9 -> protects cell from destruction 1 -> activates 9 bcl2 -> prevents apoptosis (cancer causing gene) |
Created by:
jesters
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