Cilia Flashcards
1
Q
- Components made by: Base anchor? Linkage domain? Scaffold structure? Transporters? Outer sheath?
- Motile cilum: Axoneme usually? Counter example? Distinguished by?
- Primary sensory cilium: Axoneme? Can sense what? (3)
- Cilairy gatekeeper? Blocks what? Many what related to this?
- IFT: Carry stuff towards tip? Protein complex?
- Carry stuff towards cell? Protein complex?
A
- Basal body; transition zone; axoneme; IFT; ciliary membrane
- 9+2; nodal cilia; outer and inner dyein arm
- 9+0; physical, light and chemical stimuli
- Transition zone; diffusion into cilia; ciliopathies
- Active Kinesins; ITF-B complex
- Active Dyeins; IFTA complex
2
Q
- Ciliogenesis: 2 steps? Daughter becomes? Mother becomes? How do you get more cilia?
- Cilia signaling example? Related to? (3)
- Both motile and sensing cilia play big role in? (3) And degenerative? (2)
- Cilia involved in left-right body axis development?
A
- ) Centriole formation in S phase
- ) Cilium formation in G0 or early G1
- mother centriole after mitosis; basal body; centriole amplification
- Hedgehog ligand binding leads to activation; limb formation, bone formation, neurogenesis
- Left-right axis, neural tube formation, eye development; retinal and cystic degradation
- Motile nodal cilia
3
Q
Ciliiopathies: Bardet Biedl Syndrome: Inheritance pattern? BBS proteins facilitate? Pathology?
- PKD: Inheritance pattern? Leads to? (3)
- Common clinical features of ciliopathies? (7)
- Complexities with diagnosing:
1. ) Over lap between? Need what?
2. ) What contributes to differences seen in different organs? Cep290 example?
3. ) Example of environmental impact?
A
- AR; vessicle transport within cilia; neuronal and non neuronal
- AD and AR; renal, liver and pancreatic cysts
- Obesity, polydactyly, cancer, diabetes, infertility, situts inversus, retinal degradation
1. ) genes and phenotype; concensus among rare diseases
2. ) Second site modifications; 4 mutations lead to 4 phenotypes
3. ) Increased folate = increased phenotype
