-ORIGIN OF REPLICATION- REPEATED A’S AND T’S, THE TATA BOX IS
PROMOTER SITE
- REPLICATION FORK- Y SHAPED, WHERE LEADING AND LAGGING STRAND ARE
SYNTHESIZED
-HELICASE- UNWINDS DNA—–>DEFICIENT IN BLOOM SXN (BLM GENE
MUTATION) - TOPOISOMERASE- CREATES SINGLE OR DOUBLE STRANDED BREAK IN THE
HELIX TO ADD OR REMOVE SUPERCOILS AS NEEDED—–INHIBITED BY
FLUOROQUINOLONES (TOPO 2 AKA DNA GYRASE, AND TOPO4)
-PRIMASE- MAKES RNA PRIMER ON DNA SO POLYMERASE CAN START
REPLICATION
-POLYMERASE 3-ONLY PROKARYOTES! ELONGATES LEADING STRAND BY
ADDING DEOXYNUCLEOTIDES TO THE 3’END (LAGGING) TIL IT REACHES
PRIMER
-POLYMERASE 1- PROKARYOTES ONLY! DEGRADES RNA PRIMER
-LIGASE- GLUE! JOINS OKAZAKI FRAGMENTS WITH PHOSPHODIESTER BONDS
-TELOMERASE- EUKARYOTES ONLY! REVERSE TRANSCRIPTASE, ADDS DNA
‘TAG’ AKA TTAGGG TO 3’ ENDS OF CHROMOSOME TO AVOID LOSS OF GENETIC
MATERIALS!!!!
UPREGULATED IN CANCER, DOWN REGULATED IN AGING AND PROGERIA
SO SHORTER TELOMERASE MEANS OLDER PERSON
EUKARYOTE RNA POLYMERASES
RP 1- MAKES RRNA, ONLY IN NUCLEOLUS
RP2- MAKES MRNA, SNRNA, AND MICRORNA
RP3- MAKES TRNA AND SSRNA, NO PROOFREADING BUT CAN INITIATE CHAINS
AMANTAPHALLOIDES AKA DEATH CAP MUSHROOMS CONTAIN ALPHA AMANITIN
WHICH UPON INGESTION CAN CAUSE DYSENTARY AND SEVERE
HEPATOTOXICITY–>LIVER FAILURE
Nucleotide deficiency diseases
ADD- adenosine deaminase deficiency
-ultimately leads to decrease in lymphocytes which then leads to SCID (severe
combined immunodeficiency)
-AUTOSOMAL RECESSIVE
LESCH-NYMAN SXN - X-LINKED RECESSIVE
- ABSENT CONVERSION OF HYPOXANTHINE TO IMP AND GUANINE TO GMP
- HGPRT- HYPERURICEMIA, GOUT, PISSED OFF, RED/ORANGE CRYSTALS
(SODIUM URATE) IN URINE, TENSE MUSCLES(DYSTONIA) - HEY GREG PLS RE TWEET
PRADER WILLI SXN- POP (PRADER WILLI, OBESITY, PATERNAL ALLELE
DELETED)
-MATERNAL CHROMOSOME DUPLICATED, PATERNAL ALLELE IS DELETED OR
MUTATED
-HYPERPHAGIA, INSATIABLE HUNGER, OBESITY, INTELLECTUAL DISABILITY,
HYPOGONADISM, HYPOTONIA
ANGELMANN SXN
-PATERNAL CHROMOSOME DUPLICATED, MATERNAL ALLELE DELETED
-SEIZURES, ATAXIA, INTELLECTUAL DISABILITY, INAPPROPRIATE LAUGHTER
(SAIL)
Glycogen storage diseases – VPCAM- Vice President
Cant Accept Money
V- Von Gierke
● No glycogenolysis no gluconeogenesis
● High- blood lactate, triglycerides, uric acid
● Gout
● Deficient in glucose 6 phosphatase
P-Pompe
● Cardiovascular issues, hepatomegaly,
● Pompe=pump= heart, liver, muscle
● Deficient in galactosidase (??)
C-Cori
● Mild Von gierke
● Gluconeogenesis works!
● Deficient in DEbranching enzymes!
A-Andersen
● Cirrhosis, intellectual delay, failure to thrive
● Deficient in BRANCHING enzymes
M-McArdle
● Glycogen stores in muscle and muscle cant break it down
● Myoglobinuria- RED URINE after strenuous exercise
● Mcardle=muscle
Lysosomal enzyme deficiency diseases
TaySachs- onion cherry
● Progressive neurodegeneration
● Cherry red spot on macula of eye, NO HEPATOMEGALY, ONION SKIN LYSOSOMES
● Deficient in hexokinase
Fabry
● EARLY STAGE: “think NAH!” neuropathy, angiokeratomas, and hypohidrosis
(angiokeratoma look like red wet acne)
● LATE: RENAL failure and CARDIOVASCULAR disease
● Deficient in alpha galactosidase
Gaucher
● Gaucher cells- Macs that look like crumpled tissue paper
● Pancytopenia, osteoporosis, bone crises, femur necrosis
● Deficient in glucocerebridase
Metachromatic Leukodystrophy
● Central and peripheral demyelination→ ataxia and dementia
● Deficient in aryl sulfatase A
Krabbe- Mr Krabs eyes
● Deficient in galactocerebrisidase
● Globoid cells, optic atrophy, peripheral neuropathy
Niemann-Pick- foam liver cherry
● Cherry red spot on macula, HEPATOMEGALY, foam cells
● Progressive neurodegeneration
● Sphingomyelinase deficiency
Hurlers
● Corneal clouding
● Heparan and dermatan sulfate buildup
Hunters
● Mild hurlers
● No corneal clouding, AGGRESSIVE behaviour
● Heparan and dermatan sulfate buildup
Vitamins!
Vitamin A aka retinoid, retinol, retinal