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Health and Disease: Cell biology > The SubNucleus > Flashcards

The SubNucleus Flashcards

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0
Q

Which compartment do ribosomopathies effect?

A

Nucleolus

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1
Q

What mutation causes diamond black fan anaemia?

A

S19 ribosomal protein

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2
Q

Which diseases are ribosomopathies?

A

Diamond-blackfan anaemia
Treacher collins syndrome
Dyskeratosis congenita

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3
Q

What mutation does dyskeratosis congenita have?

A

DKC1 gene mutation encodes dyskerin snoRNP associated protein

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4
Q

What is the phenotype of dyskeratosis congenita?

A

Ageing

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5
Q

Spinal muscular atrophy has mutated SMN protein in which compartment?

A

Cajal and gem bodies

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6
Q

Which viruses target nucleoli?

A

Coronavirus removes translation factor to cytoplasm

Herpes virus replicates in nucleus, altering proteasome

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7
Q

Spinal muscular atrophy effects which cells?

A

Motor neurones in anterior spinal horn

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8
Q

What causes retinis pigmentosa?

A

Mutation of PRP13 splicing factor causing loss of rods and cones

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9
Q

Retinoic-acid-receptor-alpha is mutated in what disease?

A

Acute promyelocytic leukaemia

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10
Q

What happens in acute promyelocytic leukaemia?

A

PML bodies are fused with RARa gene

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11
Q

What is the ribosome biogenesis pathway?

A

rRNA transcribed from tandem repeats in fibrillar centre
45S pre-rRNA processed by snoRNPs in dense fibrillar component to produce 28S, 5S, 5.8S, 18S
Granular component assembles ribosome subunits

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12
Q

What is the nucleolus?

A

A large multiprotein hub of 4500 proteins

Fluctuations based on cell cycle

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13
Q

How is the nucleolus implicated in cancer?

A

SIze changes
Upregulation of ribosome biosynthesis
Downregulation of ribosome synthesis in tumour supressors

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14
Q

Why do viruses target the nucloelus?

A

Subvert immune response

Hijack machinery for replication

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15
Q

How is the spliceosome assembled?

A

Gems contain SMN protein
Adjacent Cajal body uses SMN and coilin to synthesise snRNA
Nuclear speckles in interchromatin act as stores of snRNPs for maturation

16
Q

What are the splicing-associated diseases?

A

Spinal muscular atrophy

Retinitis pigmentosa

17
Q

What are Polycomb bodies?

A

Hubs for gene repression

18
Q

What is the function of PML bodies?

A

Respond to cellular stress as a promiscuous modification factory

19
Q

What is the structure of PML bodies?

A

10-30 per cell
0.1-1µm
self assembly/nucleation of monomers
recruits SUMO proteins

20
Q

Why are PML bodies targetted by viruses?

A

Subversion/no maturation of granulocytes

Health and Disease: Cell biology (15 decks)

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