Chapter 1- Cellular Pathology Flashcards
What are the four requirements of disease?
- Etiology
- Pathogenesis
- Morphology
- Clinical expression
What does gross pathology represent?
What’s occurring at the cellular level
What is the function of the majority of the human genome?
Gene regulation/dictation of the expression
What two forms make up the nuclear genetic material?
- Euchromatin
2. Heterochromatin
What are the differences between euchromatin and heterochromatin?
Euchromatin- active and dispersed
Heterochromatin- inactive and dense
What is the function of the kinetochore protein complex?
Regulation of segregation
What are telomeres?
Repetitive sequences of DNA on the ends of chromosomes, allow replication without DNA loss
What makes up chromatin fibres?
String of nucleosomes (DNA with 8 histones)
What are three kinds of non-protein coding sequences and what are their functions?
- Promoters- upstream of gene, initiate transcription
- Enhancers- modulate/regulate gene
- Mobile genetic elements- moveable segments that regulate expression
What binds to non-protein coding sequences?
Transcription factors
What are the two forms of non-coding regulatory RNAs?
- miRNA
2. Long non-coding RNA
What is the function of miRNA?
Controls expression at the translational level
Binds mRNA via RISC complex to prevent translation
Gene silencing
What is the function of long non-coding RNA?
Modulates gene expression
Activation- helps transcription complex bind
Suppression- occupies transcription complex
Promotes chromatin modification (methylation/acetylation)
What are the functions of chromatin methylation and acetylation?
Methylation- inactivated
Acetylation- activates
What is the function of chromatin organizing factors?
Controls long range DNA looping
Bridges/distances gene enhancers and promoters
What are two sources of genetic variation in DNA?
- Single nucleotide polymorphisms
2. Copy number variants
What are SNPs?
Variations at a single nucleotide position