-
Propyl hydroxylase deficiency
- Vitamin C def
- lack of hydroxylation of proline and lysine
- no hydroxy pro/lysine no collegen
-
AA important in collegon formation
- lysine - terminal NH2 with hydroxylation
- pro - middle carbon with terminal nitrogen ring with hydroxylation
-
alpha amanitins
- toxin/poision that destroys RNA poly function
- poly II gets it worst
- Poly III medium
- Poly I most resistant
-
-
-
-
Ricin
- N-Glycosidase
- removes adenine purine from sugar backbone at 28s (part of 60s) rRNA
- stops the function of rRNA and thus cell function
-
60s and 18s
60s = 28s 5.8s 5s
-
MIDD
- maternally inhereted diabetes and defness
- mitochondrial tRNA disease
- unfunctioning tRNA(leu)
- Cardiomyopathy and diabetes
-
Mitochondrial encephalopathy lactic acidosis stroke like episodes (MELAS)
- blindness and diabetes
- lack of a tRNA(leu)
-
tRNA (leu) deficiency disease
- MIDD and MELAS (MITO ATP decrease)
- diabetes and deafness
- decrease leucine (important complex 1 building block)
- decrease ATP production
-
Promotors
- TATA and CAT
- binding site for transcription factors
-
enhancers
- binding site for activators
- can be up or downstream but is usually far away
-
transcription factors
activators
- activator upregulate transcription factor powers
- transcription factors recruit polymerase and all that stuff
-
LCR
- locus control region
- controls general transcription of genes through opening of euchromatins by removal of H1 linker and histones
-
RNA Poly II C terminus
- attachment sight of post-translational modification proteins
- splizasomes
- Rat exonuclease
- polyadenalytion
-
UTR
- untranslated region
- included in final mRNA product before and after ATG/poly A tail
-
intron donor acceptor sites
acceptor GU ----intron---- AG donar
-
mRNA final product circle
- poly A tail + 5' cap region
- linked by poly A binding protein (PBP)
-
eEF vs eIF
disease
- eElongation factor, used to tRNA transfer of amino acids
- eInitiation factor, used for initiation of translation by binding to complex
- eEF depurination = ricin poisioning
- eEF 2 riboxylation = diptheria
- eIF phosphorylation = polio virus growth stragegy
-
pepdyle transferase
- formation of peptide bonds between amino acids
- function of 28s ribosome
-
chlorampheniol vs cyclohexamide
- prokaryotic and eukaryotic peptide transferase inhibitor
- antibiotic and cancer drugs respectivly
-
Aconitase
- Ferritin and transferrin translation regulatior
- aconitase binding to mRNA upregulate transferrin
- Iron binding aconitase releases it from mRNA and upregulate Ferritin
-
eIF2 regulation
without DNA erythrocytes regulate globin (of heme-globin) translation by phosphorylation of eIF2 reducing the translation rate
-
eIF4G regulation
- Poli virus stop native translation of protein by cleaving eIF4G which attaches the 40S subunit to mRNA 5'cap.
- Viral proteins has a IRES (internal ribosome entry site) which allows binding of the translation complex independent of 5' cap proteins
-
5- bromal uricil
- DNA mutation from thymine that produces reguar pairing but
- tautermization induces permiscious pairing
-
aflatoxin
liver p450 enzyme catalyzed mutation of aflatoxin and gunine compound
-
AP endonuclease
fixes depurination and deamination (with help from glycosylase to turn it into a depurination) by removing the depurinated sugar base
-
Nucleotide excession repair
- for UV damaged dimerized DNA
- excession of long strand containing the dimerized bases
-
Xeroderma pigmentosum
- lack of excession repair
- excessive UV damage can't be repired
- skin cancer
-
Cockayne syndrome
- lack transcriptional coupled repair system
- accelerated aging
- mental retardating and senality
-
Lynch Syndrom
- Hereditary none polypsis colon cancer
- autosomal domaint - only one is affected but somatic cell mutation on the single working gene will turn cell into mutator
- Thus fast replicating cells are highly suseptable
- post-replication mismatch pair repair defect
-
Ataxia- Telangietasia
- rapid aging, ImDef, dilation of small blood vessels (telagiectasia), ataxia (bad movement control)
- no double strand break repair system
|
|