L18- Gene to cell Flashcards

1
Q

What are examples of gene expression compartmentalisation?

A
  • Transcription: X chromosome inactivation
  • Splicing: apoptosis changes
  • Translation: mTOR
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2
Q

How does X chromosome inactivation occur?

A
  • 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
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3
Q

What does XIST do?

A
  • 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
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4
Q

What is the intrinsic pathway of apoptosis?

A
  • 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
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5
Q

What are the BCL genes?

A
  • Bcl-xL is antiapoptotic

* Bcl-XS promotes cell death

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6
Q

What is mTOR?

A
  • Master of translation regulation- gene

* Target of rapamycin

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7
Q

What is rapamycin?

A

• It forms a gain of function complex with FKBP12 and mammals have only one mTOR gene which forms two complexes

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8
Q

What are the two mTOR complexes?

A

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

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9
Q

What does mTORC1 do?

A

• Acts as a central hub for sensing nutrients and allowing translation to occur.

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