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Subnuclear structure
| Question | Answer |
|---|---|
| What is the nucleolus? | The largest non-membrane bound structure in the nucleus where ribosome biogenesis |
| Major components nucleolus? (3) | 1. Fibrillar centres (FC) 2. Dense Fibrillar components 3. Granular components |
| What is the nucleolus made of? | Proteins & nucleic acid - full of ribosomal genetic material |
| What are ribosomopathies? | Range of disorders in which genetic abnormalities cause impaired ribosome biogenesis/function |
| Ribosomopathies examples? (3) | 1. Diamond-Blackfan Anaemia (DBA) 2. Dyskeratosis congenita 3. Treacher Collins Syndrome (TCS) |
| Mutation causing DBA? | Single mutation in ribosomal protein S19 |
| DBA Symptoms? (3) | 1. Low RBC counts 2. Craniofacial, thumb/upper limb abnormalities 3. Cardiac defects |
| Mutation causing Dyskeratosis congenita? | Mutation in DKC1 (encodes dyskerin) |
| Symptoms of Dyskeratosis congenita? (3) | 1. Skin pigmentation 2. Premature greying 3. Dystrophy of nails |
| Mutation causing TCS? | Mutation in TCOF1 gene - encodes nucleolar protein Treacle |
| Symptoms of TCS? | Craniofacial deformities |
| Types of Nucleolar Protein? (3) | 1. Mainly in nucleolus - fibrillarin & nucleolin 2. Part-time in nucleolus - ribosomal proteins 3. Time/condition dependent - p68 & cell cycle factors |
| Nucleolus is a biomarker for? | High grade tumours |
| Why do viruses target the nucleolus? | To redistribute cellular proteins in/out nucleolus to: - use the proteins to enhance virus replication - subvert antiviral pathways |
| What type of viruses are coronaviruses? | +ve ssRNA virus |
| What is Herpesvirus? | A large dsDNA virus which replicates in the nucleus |
| Sub-nuclear structures with splicing related functions? | 1. Nuclear speckles 2. Cajal bodies 3. Gems |
| what are PcG bodies? | Sub-nuclear structures involved in transcriptional repression |
| What are PML bodies? | Sub-nuclear structures involved in protein complex assembly/modification |
| What does the spliceosome consist of? | U1-6, small nuclear RNPs (snRNPs) & a large no. of proteins |
| What are cajal bodies? | Spherical sub-organelles that contain proteins that participate in mRNA biogenesis - also involved in maturation of spliceosomal stuff eg snRNPs |
| What are nuclear gems? | Gemini of coiled bodies, contain SMN protein |
| What does SMN protein do? | functions in snRNP biogenesis |
| What is Spinal Muscular Atrophy? | Incurable disease caused by defect of SMN1 gene |
| What does the SMN1 gene do? | Codes for SMN protein |
| Symptoms of spinal muscular atrophy? | Widespread splicing defects - especially spinal motor neurons |
| Function of nuclear speckles? | Storage & modification compartment for pre-mRNA splicing factors |
| Where does splicing occur? | Nuclear speckles |
| What is Retinis pigmentosa? | Genetic eye condition caused by mutations in splicing factor PRP31 |
| What is PRP31? | Splicing factor associated with nuclear speckles |
| What are polycomb bodies? | Hubs for gene repression - usually associated w/ heterochromatin |
| PML bodies roles? (3) | 1. Nuclear storage for accumulation of proteins 2. 'catalytic surfaces' where proteins accumulate to be post-translationally modified 3. Active sites for specific nuclear functions eg transcriptional/chromatin regulation |
| PML bodies in apoptosis? | Regulate p53-dependent apoptosis |
| PML bodies in virus infection? | Form arty of interferon induced host innate immune response |
| What is acute promyelocytic leukaemia caused by? | Mutation in PML protein |
Created by:
rubyroo
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