L18- Gene to cell Flashcards
What are examples of gene expression compartmentalisation?
- Transcription: X chromosome inactivation
- Splicing: apoptosis changes
- Translation: mTOR
How does X chromosome inactivation occur?
- Used to compensate dosage in both sexes
- With a IncRNA- the X-inactive specific transcript (XIST)
- Xic (X inactivation centre) is a locus on all mammalian X chromosomes which contains XIST
What does XIST do?
- Codes for a non-coding RNA which binds its chromosome in cis
- Chromosome ends up as heterochromatin aka a Barr body which cannot be transcribed
- Inactivation is randomly in one X or the other
What is the intrinsic pathway of apoptosis?
- Internal stimuli such as DNA damage, oxidatives stress and hypoxia
- Cause loss of outer Mt membrane and release cytochrome C into cytoplasm
- Cytochrome C forms complex with Apaf-1 and caspase 9 to form apoptosome
- Apoptosome activates caspase 3 which activates cytoplasmic endonuclease and proteases that degrade the cell and its contents
What are the BCL genes?
- Bcl-xL is antiapoptotic
* Bcl-XS promotes cell death
What is mTOR?
- Master of translation regulation- gene
* Target of rapamycin
What is rapamycin?
• It forms a gain of function complex with FKBP12 and mammals have only one mTOR gene which forms two complexes
What are the two mTOR complexes?
mTORC1- characterised by presence of raptor (regulatory associated protein of mTOR), inhibited by rapamycin
mTORC2- characterised by presence of rictor (raptor independent companion of mtor), insensitive to rapamycin
What does mTORC1 do?
• Acts as a central hub for sensing nutrients and allowing translation to occur.