Term
|
Definition
|
|
Term
|
Definition
| more function/less function |
|
|
Term
|
Definition
|
|
Term
|
Definition
| same function, but with different in certain circumstances (like temp sensitivity) |
|
|
Term
|
Definition
|
|
Term
|
Definition
happens in repeats, insertion/deletion
ex. fragile X |
|
|
Term
|
Definition
| too many CGG repeats (>200) lead to methylation and no tx |
|
|
Term
|
Definition
find mistake, cut it out with exonuclease, replace with DNA polymerase
if in bacteria, correct strand is methylated |
|
|
Term
|
Definition
| MMR mutation, 1 copy of the gene means haploinsufficiency, leads to high frequency of cancer |
|
|
Term
|
Definition
natural variations in the chemical structure of molecules
T to G, C to A (becomes ok) |
|
|
Term
|
Definition
cytosine -> uracil (cut out of DNA by BER)
cytosine -> thymine (becomes issue) |
|
|
Term
|
Definition
| base excision repair, the abasic site is where uracil was cut out and new base is put in |
|
|
Term
|
Definition
creates pyrimidine dimer, blocks tx
many organisms can do photoreactivation to break the dimer, we have to us NER |
|
|
Term
|
Definition
| small chemical signal that binds to a larger molecule (direct, paracrine, endocrine) |
|
|
Term
|
Definition
diffuses into cell, binds to receptor (change shape), hormone/receptor then binds to DNA to activate tx of gf
hydrophobic or very small |
|
|
Term
|
Definition
androgen insensitivity - inherited mutation in testosterone receptor
XY female |
|
|
Term
| G protein linked receptors |
|
Definition
| signal causes G to bind to receptor, which causes GTP binding and converts it to GDP (GTPase hdrolyzes to GDP), activates relay proteins |
|
|
Term
|
Definition
| toxin keeps G protein always active, cAMP activates kinase A which opens ion channels and allows H20 and NaCl to leak into intestine |
|
|
Term
| RTK (receptor tyrosine kinase) |
|
Definition
| signal binds to receptor (pair), phosphorolates tyrosine, bind gf (tightly reulate cell division), phosphorylation cascade |
|
|
Term
|
Definition
| Bcr (strong promoter) and Abl (proto-oncogene...cancer if mutated) get put together on 22 chromosome, which makes Bcr-Abl protein always expressed and leads to leukemia |
|
|
Term
| chronic myelogenous leukemia |
|
Definition
| uncontrolled division of WBC |
|
|
Term
|
Definition
| designer drug, targeted therapy (blocks specific pathway by binding instead of ATP to prevent phosphorylation) |
|
|
Term
|
Definition
| cancer vs. passed to offspring |
|
|
Term
| transition vs. transversion |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| insertion/deletion, usually disasterous |
|
|
Term
|
Definition
| ALS is degeneration of motor neurons, defect in superoxide dismutase (helps cells break down super oxide which makes us age) |
|
|
Term
|
Definition
| .6 mutations per cell per division, replication errors |
|
|
Term
|
Definition
| breaks dimers UV radiation causes and allows DNA to repair |
|
|
Term
|
Definition
| hormone response element, usually clustered in regions called enhancers, where steroid receptors bind |
|
|
Term
|
Definition
| hormone response element, usually clustered in regions called enhancers, where steroid receptors bind |
|
|
