Term
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Definition
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Term
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Definition
| provides docking site for RNA processing enzymes; repeating serines in CTD sequence get phosphorylated by eIF2H to start translation |
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Term
| 5' cap always contains... |
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Definition
7-methylguanosine bonded to
hnRNA through a 5’5’-triphosphate linkage |
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Term
enzyme that catalyzes methylation uses the coenzymes
folate and B12 to form... |
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Definition
S-adenosylmethionine, from which
methyl groups are transferred to substrate |
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Term
| For translation, 5' cap is critical for... |
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Definition
| binding to eIF4E and eIF4G, then binding to 40S ribosome after continued formation of PIC |
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Term
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Definition
stability
facilitates nuclear export
augmenting translation |
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Term
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Definition
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Term
| Polyadenylate polymerase... |
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Definition
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Term
| large RNA-protein complex responsible for splicing? |
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Definition
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Term
| small nuclear ribonucleoproteins (snRNPs)... |
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Definition
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Term
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Definition
involves cleavage within the mRNA first followed by 3’ to 5’
exonuclease activity |
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Term
| Deadenylation-dependent Pathway |
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Definition
: involves first removal of the poly-A tail and either
continued 3’ to 5’ exonucleolytic degradation or decapping followed by 5’ to 3’ exonucleolytic
degradation |
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Term
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Definition
| involves direct 5’ to 3’ exonucleolytic degradation from the 5’ cap onwards |
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Term
| components of the pre-initiation complex? |
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Definition
40S ribosomal subunit
eIF 3, 1A, and 2
charged tRNA
GTP |
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Term
| mRNA binding to preinitiation complex |
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Definition
| binds after associating with eIF4F (composed of eIF4 A,B,E, and G) and Poly-A Binding Protein (PAB) |
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Term
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Definition
| blocks peptidyl transferase activity in bacteria |
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Term
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Definition
| blocks binding of AA-tRNA to A site |
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Term
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Definition
| prevents transition from initation complex to chain elongation |
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Term
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Definition
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Term
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Definition
| binds RNA polymerase, blocking transcription |
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Term
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Definition
Kreutzfeldt-Jacob Disease; degenerative neurological disorder that can develop through 4 diff. modes:
sCJD- spontaneous
vCJD- ingestion
iCJD- exposure (cornea tranplant ex.)
fCJD- familial (predisposition only) |
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Term
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Definition
| changes to phosphotidylcholine(PC) and sphingomyelin(SM) in cellular plasma membrane(PM) = breakdown of PM |
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Term
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Definition
| Persistent Hyperinsulinemic Hypoglycemia of Infancy; defective ATP K+ channel results in over-release of insulin |
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Term
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Definition
| Cystic Fibrosis; autosomal recessive disorder; defective ABC Transporter = lack of Cl- diffusion = thickened mucus in lungs, pancreas |
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Term
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Definition
| Cholera A toxin activates PKA of ABC Transporter = increases Cl- diffusion in intestines= diarrhea, dehydration |
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Term
| eukaryotic primary active tranporters |
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Definition
F-ATPase
V-ATPase
P-ATPase
ABC Transporter (ATP Binding Cassette) |
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Term
Membrane Transport
ENERGY |
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Definition
PASSIVE
- simple diffusion
- facilitated transport (conformational Δ, pore, gated channel)
ACTIVE
- primary: direct E source
- secondary: coupled w/ rxn
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Term
Membrane Transport
NUMBER OF MOLECULES |
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Definition
UNIPORT
SYMPORT
- more than one molecule moved in smae direction
ANTIPORT
- more than one molecule moved in opposite directions
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Term
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Definition
primary active tranport
(ATPase)
3 Na+ out, 2 K+ in |
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Term
| Intestinal Membrane Transport of Glucose |
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Definition
| Na+ dependent secondary active cotransport bring 2Na+, glucose into intestinal epithelium cell; uses energy from a Na+, K+ ATPase pump on plasma side, which pumps Na+ out into plasma in second step (hence secondary), glucose passes into plasma through facilitated diffusion |
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Term
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Definition
| coverts CO2 to bicarbonate, passes via facilitated antiport at differing concentration gradients |
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Term
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Definition
| molecule with an equal number of positive and negative charges, resulting in a neutral net charge |
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Term
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Definition
| autosomal recessive disorder- decreased reabsorption of cystine causes build-up and develop. of crystals in kidneys |
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Term
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Definition
| Phenylalanineketoneuria; autosomal recessive defect in Phe hydroxylase (PAH) causes increased Phe concentrations -> phenylpyruvic acid; causes musty odor of urine, problems in neuro development in young children |
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Term
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Definition
PPMAT IGVL
Proline, Phenylalanine
Methionine
Alanine
Tryptophan
Isoleucine
Glycine
Valine
Leucine |
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Term
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Definition
TAG The Correct Structure
- Threonine
- Asparagine
- Glutamine
- Tyrosine
- Cysteine
- Serine
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Term
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Definition
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Term
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Definition
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Term
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Definition
CJD (4 modes of contraction, s-,v-,i-,f-)
Kuru
FFI
GSS |
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Term
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Definition
| prion disorder caused by ritualistic cannabilism |
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Term
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Definition
| familial fatal insomnia; prion disorder due to germline mutation of PRNP locus |
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Term
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Definition
| Gerstmann-Straussler-Scheinker Syndrome- prion disorder due to germline mutation of PRNP locus |
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Term
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Definition
| Azidothymidine; used as HIV/AIDS therapy; phosphorylated into viral DNA as an analog of deoxythmidine -> terminates replication by reverse transcriptase |
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Term
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Definition
| Zidovudine; used as HIV/AIDS therapy; phosphorylated into viral DNA as an analog of deoxythmidine -> terminates replication by reverse transcriptase |
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Term
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Definition
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Term
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Definition
| analog of U and T that may be used in chemotherapy of adenocarcinoma, prevents production of dT nucleotides, so none available for DNA synthesis |
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Term
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Definition
| Rett Syndrome; characterized by normal development 1-2 years then loss of communication/motor skills (neurodegenerative); chromatin remodeling disease- opens chromatin structure by mutations in MECP2, so cannot recruit HDAC, overactive gene expression |
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Term
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Definition
| Chronic Myelogenous Leukemia; reciprocal translocation resulting in Philadelphia Chromosome; treated w/ Imatinib |
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Term
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Definition
| used to treat CML, cancers; binds to Abl gene kinase active site in CML |
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Term
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Definition
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Term
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Definition
| Muscular Dystrophy; most common types = Duchenne(lack of dystrophin production) and Becker (low or less functional dystrophin) |
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Term
| most prevalent component of the human genome? |
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Definition
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Term
| 3 types of retrotransposons |
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Definition
| LINEs, SINEs, and retrovirus-like |
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Term
| 2 types of actively tranposing transposons |
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Definition
[can be autonomous or nonautonomous]
RETROTRANSPOSONS: COPY and paste (LINEs, SINEs, and LTRs)
DNA TRANSPOSONS: CUT and paste |
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Term
| Repetitive DNA of telomeres and centromeres |
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Definition
satellites: large arrays of repeats in pericentromeric regions
megasatellites: blocks of arrays on chromosomes 4,8,19, and X
minisatellites: smaller blocks found at telomeric regions
microsatellites smallest blocks, widely dispersed |
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Term
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Definition
| method for detecting specific sequences of DNA (often genes) |
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Term
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Definition
| method used to detect gene expression by detecting RNA or mRNA in a sample |
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Term
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Definition
| heterzygous for genes that result in sickle cell anemia; can be analyzed by RFLP analysis during genetic counseling |
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Term
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Definition
| Restriction Fragment Length Polymorphism; uses verying size of different genes to determine via Southern blot a given genome |
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Term
| allelic-specific oligonucleotide probes |
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Definition
| if the RE site is not affected by polyporphisms = same size; uses allele specific oligo probes instead |
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Term
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Definition
| Polymerase Chain Reaction Detection; primer used for PCR specific to polymorphism, will only amplify target sequence |
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Term
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Definition
| Uses repetetive seqeunces (VNTR) as a genetic fingerprint |
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Term
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Definition
| dehydration; low BP; decreased urinary output; RTA domain of ricin toxin binds and depurinates the 28S rRNA, which is then targeted for destruction |
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Term
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Definition
| Alzheimer's Disease; RIP/Notch Signaling by beta-secretase produces beta-amyloid plaques; neurodegenerative; early or late onset |
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Term
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Definition
pre-65 years of age
APP mutations at Abeta42
Presenilin 1 mutations |
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Term
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Definition
65 years +
aging
environmental factors
E4/E4 increased likelihood of development |
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Term
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Definition
| Spinal Cerebellar Ataxia; Ataxin CAG repeats result in polyQ-type disease |
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Term
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Definition
| Parkinson's Disease; alpha-synuclein proteins fold abnormally, aggregate into Lewy bodies, causing death of dopaminergic cells |
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Term
|
Definition
| Amoyotrophic Lateral Sclerosis or Lou Gehrig's Disease; SOD1 misfolds may cause this condition by aggregating in motor neurons |
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Term
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Definition
| Huntington's Disease; CAG repeats (40+) cause HTT protein to change into mHTT protein; cleavage produces aggregates which result in neuronal death |
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Term
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Definition
| improper folding of IAPP (Islet AMyloid Polypeptide) in beta-islet cells produces amyloid plaques that cause apoptosis of insulin producing cells |
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Term
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Definition
| Vanishing WHite Matter; coupled w/ Leukoencephalopathy w/ CNS hypomyelination; neuro-deterioration following trauma/fever; due to missense mutation in eIF2, which decreases formation of PIC, decreases myelination, results in stress conditions inducing coma |
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Term
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Definition
| Xeroderma Pigmentosum; inability to repair UV-damaged skin lesions; autosomal recessive; no global genome repair |
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Term
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Definition
| Cockayne Syndrome; defect in transcription coupled repair; causes neurodegeneration and premature aging |
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Term
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Definition
| Chronic Myelogenous Leukemia; reciprocal translocation of ABL (Chr 9, Abelson Leukemia Virus) and BCR (Breakpoint Cluster Region of Chr 22)results in Philadelphia Chromosome; causes uncontrolled cell growth; has chronic, accelerated, and acute (blastic) phases; treated w/ Imatinib |
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Term
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Definition
| treats CML by binding w/ ABL kinase active site, stopping overactivity |
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Term
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Definition
| swollen lymph nodes; chromosomal translocation (usu. 8,14) juxtaposes c-myc proto-oncogene (Chr 8) w/ immunoglobulin regulatory elements (Chr. 2,14, or 22), resulting in inappropraite c-myc epression; associated with Epstein-Barr virus and HIV/AIDS |
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Term
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Definition
| loss of function due to mutation of WT1 gene leads to oncogenic expression resulting in kidney tumors uner 5 years of age |
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Term
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Definition
| poisons RNA polymerase by reducing flexibility of enzyme; influenza-like symptoms followed by liver/kidney damage, coma, death; deathcap mushroom |
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Term
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Definition
| mutations in one allele diminishes transcriptional expression of beta-hemoglobin chainl impaired RBC function due to impairment of mRNA due to mis-splicing; do not treat with iron supplements |
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Term
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Definition
energy storage (ATP,etc.)
coenzymes (NAD+)
signaling intermediates (cAMP)
allosteric regulators
DNA, RNA |
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Term
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Definition
| AKA primary protein structure; read N-terminal to C-terminal |
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Term
| cytosolic membrane lipids |
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Definition
PE- phosphotidylethanolamine
PS- phosphotidylserine
PI- phosphotidylinositol |
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Term
| exoplasmic membrane lipids |
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Definition
PC- phosphotidylcholine
SM- sphingomyelin |
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Term
|
Definition
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Term
| intestinal Na+-dependent glucose symporter terms |
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Definition
SGLT1- secondary active symporter
GLUT2- facilitated diffusion of glucose from intestinal cell to plasma |
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Term
| Ca+ transport in muscle contraction- terms |
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Definition
VDCC- Voltage-dependent Ca++ channels
Ryanodine- inhibits VDCC
Ouabain- blocks Na+/K+ ATPase in cardiac muscle |
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Term
| Gastric Parietal Cells- terms |
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Definition
| Omeprazole- inhibits alpha subunit of proton pump |
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Term
|
Definition
| Adenine-nucleotide Binding Cassette; important in CFTR, Cholera toxin |
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