Cilia and ciliopathies II Flashcards
why cilia are used for cell signaling
- cilia concentrates signal (high SA:V)
- signal is localized and polarized within discrete domains of the cell
- receptors are positioned away from the interfering cellular domains
- cilia can funcation as a mechanical detector of flow
cilia can sense _______, light and _______. All of thse produce a diverse array of downstream events including _______
- physical stimuli
- light
- chemical stimuli
- cellular proliferation, cellular motility, polarity, growth, differentiation and tissue maintenance
activation and repression of the target of the _______ paracrine signaling pathway requires cilia
Hh
In the case of Hh signaling, downstream targets facilitate
- limb formation
- bone formation and homeostasis
- neurogenesis
both ciliary-based motility and signaling are required for
developmental and tissue homostasis functions
an example of the coordinated efforts of both motile and sensory cilia function during development is
the ciliary node that establishes the L-R asymmetry of the body plan (laterality)
the ciliary node is an _______ that forms during gastrulation on the _______ after anterior-posterior positioning is already established.
- invagination of ciliated cells
- midplate
the ciliary node is an invagination of ciliated cells that forms during _______ on the midplate after _______.
- gastrulation
- anterior-posterior positioning is already established
Nodal cilia possess a ________ organization yet they beat in a _______ fashion (at 600 rpm!) to produce _______. The signals are then detected by _______ that reside near the periphery of the ciliary node to signal _______.
- 9+0
- rotary
- a net leftward flow of signaling molecules / morphogens
- non-motile sensory cilia
- organogenesis
characteristics of ciliopathies
- rare
- pleiotropic
- overlapping
- structural (affect core cilium structure and function)
- diverse
- genetically complex
Bardet-Biedl syndrome (BBS) - inheritance pattern and genes mutated
autosomal recessive, 19 genes known to be mutated
Bardet-Biedl syndrome (BBS) - proteins participate in a protein complex that is required for ________
vesicle transport within the cilium
Bardet-Biedl syndrome (BBS) - symptoms
- Photoreceptor degeneration
- Anosmia
- Mental retardation / Developmental delay
- Neural tube defects
- Obesity
- Hypogonadism
- Kidney defects
- Polydactyly
- Diabetes
- situs inversus
Polycystic Kidney Disease (PKD) inheritance pattern
AD (ADPKD) and AR (ARPKD)
Polycystic Kidney Disease (PKD) is caused by
ADPKD = fibrocystin mutations ARPKD = polycystin-1 and polycystin-2
