Oncology Foundations Flashcards
Endoplasmic reticulum
Produces CYP metabolic enzymes
Circadian regulation
Clock/bmall per/cry regulate each other
Gravity can trigger rather than light
Methylation
Gene in off position
Decreased transcription
Chromosome
Gene: functional unit of heredity
Allele: alternative form of a gene
PXR
CYP 3A4 transcription factor
Gene imprinting
Silenced
Methylation
Can result in Prader-Willi Syndrome
Down syndrome
Trisomy 21
Type of aneuploidy
Genetically dominant
One allele determines phenotype over another allele
Translocation
Chronic leukemia
Philadelphia chromosome
Ring
Infertility
Recessive trait phenotype
Every other generation
Dominant trait
50% inheritance
Genomics
Structure/function character of the genome
Genome(genetic complement of an organism)
Most genomic medicine based on..
A Conformation
Pharmacogenes
2% of all genes
Genome maintenance
Signal transduction
Biochemical balance
Mitochondrial DNA
Circular
From mother
Can tolerate more damage
Contains all genetic information like chromosomes
Multiplicity of RNA
Alternative promoters on DNA
Alternative splicing of mRNA introns
General transcription complex (GTC)
Recognizes promoter TATA box
Promoter controls whether a gene should be transcribed
Expression differentiation
Transcription factor determines if gene is transcribed or not
4 types of transcription factors HHLZ
Proteins of different conformations that regulate gene transcription and expression
Helix loop helix :myo D muscle differentiation
Helix turn helix: pdx1
Leucine zipper
Zinc finger: PXR, estrogen receptor
Transcription factories
Transcription locations with Shared RNA polymerase
Genes with similar functions
Gene expression silencing RNA polymerase
Endo-siRNA
microRNA
Break down and modify mRNA after processed by si/microRNA
Silencing
mRNA production RNA polymerase
Heterogenous nuclear RNA
Protein translation RNA polymerase
pre-rRNA
rRNA
tRNA
Translation
AUG methionine start codon
RCCAUG starting sequence
Post translational modifications
Proteolytic processing generates protein diversity
Protein folding for degradation stability
Acetylation - activate
Methylation - silence
Phosphorylation- signal transduction
P53 tumor suppressor
Phosphorylate to activate and suppress tumor
Stress, UV radiation can activate kinase/acetyltransferase and p53 activation
Argonaute complex
Recognize and modify mRNA after processing small RNA(siRNA, microRNA)
Increase RNA degradation
Repress translation
Decrease transcription
Circular RNA counteract microRNA activity
4 Rules of genetic based diseases
1) genetic diseases are difficult to treat
2) most genetic alterations cause no phenotype changes
3) somatic DNA alterations (after birth) are the ultimate causes for cancer
4) DNA alterations may occur in promoter, coding region, and intron
Silence substitution
Substituted base that results in the same amino acid codon
Missense substitution
Substitution Forms a different amino acid
Frameshift
Insertion, deletion
Severe, changes multiple codons and downstream amino acids
Nonsense substitution
Forms a stop codon
Germline genetics
From parents, before birth
All cells in organism
Inheritable
Polynorphisms
Somatic genetics
After birth
Affected by environment
Small number of cells
Cancer
Most frequently used for sequencing
HiSeq
Cheapest, fastest 98% accurate though
Opposite Sanger: slowest, expensive
Sequencing analysis
DNA: genome
mRNA: expression
ChIP: protein-DNA interaction, global mRNA expression
EcoRI
Recognizes and cleaves DNA sequence
Endonuclease
Restriction fragment length polymorphism
Primer
Determines which gene is amplified in PCR
Short complementary DNA strand
The more PCR cycles needed, the lower the expression
PCR differentiation
Can detect insertion, deletion
Can differentiate by Endonuclease restriction digest