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Biochem final


Rifampicin interferes with initiation of transcription by blocking the passage channel fo RNA/DNA hybrid, prok only
Actinomycin inserts itself btwn base pairs (DNA can't be a template for RNA pol) both prok and eukaryotes
streptolydigin binds to RNA pol, prevents phosphodiester bond formation (prok)
α-amanitin strongly inhibits RNA polymerase II, weakly inhibits RNA pol III (euk)
streptomycin inhibits initiation, misreading of mRNA (prok)
tetracycline binds to 30s, inhibits binding of aminoacyl-tRNA (prok)
chloramphenicol inhibits peptidle transferase at 50s (prok)
cyclohexamide inhibits peptidyl transferase activity in 60s (euk)
Erythromycin binds to 50s subunit and inhibits translocation
Puromycin premature chain termination, acts as an analog of aminoacyl-tRNA (prok & euk)
Cyclin D CDK 6&4 get through G1
Cyclin E CDK 2 G1--> S
Cyclin A S-->G2-->M, regulated by APC
Cyclin B CDK1 through M, regulated by APC
Retinoblastoma Rb is a tumor suppressor gene, usually binds & inactivates E2F, with growth signals Rb is phosphorylated and releases E2F (transcription factor)
p53 transcription factor, ordinarily synthesized and degraded, if it hangs out to long it moves into the nucleus and turns on transcription of p21 (CDK-inhibitor)
Li_Fraumeni Syndrome inherited p53 defect
autosomal dominant 1. no skipping of generations 2. males and females are equally likely to be affected 3. normal siblings of affected individuals do NOT pass it on 4. usually a structural protein not an enzyme
Marfan Syndrome Autosomal dominant (variable expressivity), mutation in the FBN1 gene, chrom 15 - encodes for fibrillin-1, skeletal abnormalities
Huntington Autosomal dominance (late onset), CAG repeats in the coding section (encoded bc of strand slippage during replication)
myotonic dystrophy autosomal dominant, delayed expression in NON-translated region, slowly progressive muscle weakness and myotonia
genetic anticipation tendency for the severity of the disease to increase and the age of onset to decrease
fragile x X-linked dominant increased CGG repeats, FMR1 not expressed, no protein made, since females carry 2 Xs tends to be milder
neurofibromatosis type 1 cafe au lait spots, protein is neurofibromin which causes a loss of growth supressors, autosomal dominant inheritance (high new mutation rate)
achondroplasia autosomal dominant, high recurrent mutation, short stature, mutation in the fibroblast growth factor receptor gene 3 (severely shortened bones)
Potter's syndrome autosomal dominant, incomplete penetrance
Autosomal recessive 1. equal male & female 2. sibling recurrence rate is 1/4 3. characteristically found in siblings, not parents 4. parents may be related 5. may be an isolated event in small sibships
X-linked recessive never pass father to son affected females MUST have affected fathers typically passed from affected grandfather to 1/2 of grandsons
X-linked dominan never pass father to son all daughters of affected parents are affected, all sons of affected male and unaffected female are normal affected females x normal male = 1/2 affected sons male more seriously affected than females
Patau trisomy 13, usually die within 3 months
edwards syndrome trisomy 18, distinct facial features, 80% of those affected are females,
klinefelter XXY low levels of testosterone
turner XO, underdeveloped female secondary sex characteristics, webbed neck
williams syndrome deletion of the q arm of chrom 7 (including elastin gene), broad forehead, short nose, widely spaced teeth
cri du chat deletion of the short arm of chrom 5, 80% of time comes from father's sperm,abnormal larynx development = mewing (becomes normal w/i few weeks),
imprinting reversible form of inactivation, acts through methylation, only occurs on 9 chrom
prader-willi small deletion on the short arm of chrom 15 from father. hypotonia, difficulty feeding, insatiable appetite, small hands and feet, hypogonadism
angelman small deletion on short arm of chrom 15 from mother, severe mental retardation, nonverbal, balence disorder
osteogenesis imperfecta mosaicism, type 1 collagen disorder, easy fractures of the bone, autosomal dominant
methotrexate and aminopterin inhibit thymidylate synthase (no dTTP)
fluorouracil inhibits dihydrofolate reductase (do dTTP)
HGPRT deficiency --> Lesch Nyan, X-linked recessive
Adenosine deaminase deficiency used in purine salvage pathway, causes SCID, ATP and dATP accumulate --> imbalnce of nucleotide pool, prevents DNA syn
glutamine PRPP amidotransferase purine synthesis, removes pyrophosphate from PRPP leavind a phosphoribosyl amine
Xanthylate synthase uses NAD and H2O to form a carbonyk, can be inhibited by GMP
allopurinal suicide inhibitor of xanthine OXIDASE, enzyme can't degrade purines to urate
carbamoyl phosphate synthase pyrimidine synthesis, NOT from urea cycle, inhibited by UTP, activated by PRPP
ribonucleotide reductase removes 2'OH, so they can be incorporate into DNA, regulated to keep the dNTPs in balence
campothecin and doxorubicin type 1&2 topoisomerase inhibitors, stabilize the DNA-topoisomerase complex, DNA makes cut and the drug blocks the reattachment
cohesins hold chromosomes together, regulated by APC (through securin and separase)
T-loops hides dsDNA from DNA repair machinery, free of nucleosomes, stabilized by TRF1 proteins
RNA syn does NOT require a promoter, initiation is TATA region, termination is GC rich (forms hairpin), can also have rho factor (ATPase and a helicase, binds to Crich, G poor region and pulls it away from the RNA pol and DNA template)
RNA trasncription a DAB of F brings RNAPOL, EH?
spliceosom snRNPs and pre-mRNA
B-thalassemia abnormal splicing of B-globin
amino-acyl tRNA stnthetase requires ATP
ran signal peptide receptor in nucleus and cytoplasm, serves in both nuclear import and export,
NF-AT transcription factor mediated by nuclear import/export, wehn it is stimulated calcinurin moves to the nucleus and stimulates trascription, in low calcium environment calcineurin falls off and the NF-AT is kicked out of the cell
cholera colonize the small intestine and produce mono-ADP-ribotransferase, modifies the G-protein involved in walter and salt balence. G-protein cannot release GTP so Adenylyl cyclase is active --> inc cAMP --> intestinal cells secrete water and salts
Pertussis whooping cough, colonize the lungs and add ADP-ribose ot G-protein resulting in inc mucus secretion
Diphtheria infect nasopharynx/skin, toxin is endocytosed after binding to epidermal growth factor receptor --> acidified in endosome --> ribosylation of EF2 (blocks protein syn)
Ricin heterodimeric ribosome-inhibiting proteinm doens't use NAD+ instead cleaves A and stops protein syn
somatic cell hybrids use sendai virus to fuse 2 cells and nuclei from different species. can't be used for disease genes
RFLP markers to certain locations on different chromosomes, can indicate whether crossing-over has occurred btwn the marker and the disease gene (show you how close together the 2 are)
Beckswith Wiedemann Syndrome chrom 11 - imprinted in father, maternal deletion = syndrome, paternal deletion = no effect
CGH comparative genomic hybridization detects global gains and losses by compaing sa,ple DNA to the normal human chrom, can detect anueploidy or gene amplificaion in tumors, will not detect balenced rearrangements
GPCRs largest family of cell surface receptors, 7transmembrane domains, extracellular domain binds ligand, can be inactivated by receptor inactivation, receptor internalization or receptor downregulation
ATP used per peptide bond in protein synthesis 4
Neurofibromatosis II mutation on tumor supressor gene, chrom 22, Bilateral acoustic neuroma (CN VIII), Juvenile cateracts
Rett's MECP2 genes>> form synapses between nerve cells, unclear, X-linked, fatal in males, hand-wringing
Beckwith- Wiedemann Macrosomia: large body Macroglossi: large tongue Enlargement of internal organs maternally imprinted Wilm’s tumor and embryonal tumors omphalocele
Xeroderma pigmentosa inability to repair thymine dimers
Ataxia telangectasia defect in ATM protein>> protein kinase activated by double strand breaks
Wilm’s tumor defect in the imprinting of the insulin like growth factor 2 gene>> both maternal and paternal expression Symptoms: Childhood tumor of the kidney
karyotyping with light microscopy G-banding
Created by: LCiminello
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