Cilia and Ciliopathies Flashcards
The distinguishing factor between motile and immotile cilia is the presence of ________.
axonemal dynein arms between the doublet microtubules
The ciliary membrane is continuous with the cellular _____.
plasma membrane
How many genes are known to be mutated in BBS?
19
An estimated _____proteins are coordinated to form the cilium.
1,000
Microphthalmia
Small eye developmental disorder
The ______ is the structural skeleton of the cilium.
axoneme
Nephronophthisis
Progressive renal damage
Polydactyly
extra digit on the ulnar side of hand or foot
Cilia can sense ____ and ____ stimuli.
physical; chemical
situs inversus
Left-right laterality defects to randomize organ position
How is PKD inherited?
both autosomal dominant and recessive forms
What is anterograde transport?
movement towards the ciliary tip
The transition zone links the ____ to the ____ and to the ______.
basal body; axoneme; ciliary membrane
______, ________, or _________ possess a 9+0 microtubule arrangement.
Non-motile, sensory or primary cilia
Ciliogenesis normally occurs during ____ phase of the cell cycle.
G1 (or G0)
The basal body is formed beginning at the _____ and the distal-end is responsible for _____.
basal body; nucleating the cilium
_____ is caused by mutations in polycystin-1 and polycystin-2.
ADPKD
How does retrograde transport occur?
by cytoplasmic dynein 2 motor driven transport with the IFT-A protein complex
What establishes left-right asymmetry of the lateral body plane?
the ciliary node
What does the beating of the ciliary node cilia do?
produces a net leftward flow of signaling molecules/morphogens
Where does ciliogenesis begin?
at the distal end of the basal body
Which centriole becomes the basal body?
the older one (the mother centriole?
ADPKD is caused by mutations in _____ and _____.
polycystin-1; polycystin-2
What is the purpose of the ciliary node?
establishes left-right asymmetry of the lateral body plane
The ______ is formed beginning at the proximal-end and the distal-end is responsible for nucleating the cilium.
basal body
_____ is caused by fibrocystin mutations.
ARPKD
The _____ is formed from doublet microtubules (A-B tubules) that assemble from the A- and B-tubules of the basal body.
axoneme
Non-motile, sensory or primary cilia possess a _______.
9+0 microtubule arrangement
How is Bardet-Biedl Syndome (BBS) inherited?
autosomal recessive
The hedgehog (Hh) signaling pathway is well established to signal through ____.
cilia
The ______ links the basal body to the axoneme and to the ciliary membrane.
transition zone
_____ normally occurs during G1 (or G0).
Ciliogenesis
The _____ is continuous with the cellular plasma membrane.
ciliary membrane
What does BBS stand for?
Bardet-Biedl Syndome
The _____ signaling pathway is well established to signal through cilia.
hedgehog (Hh)
The axoneme is formed from ______ that assemble from the_______ of the basal body.
doublet microtubules (A-B tubules); A- and B-tubules
What does PKD stand for?
Polycystic Kidney Disease
What is intraflagellar transport (IFT)?
bidirectional transport with kinesin motors and the IFT-B protein complex directing movement to the ciliary tip
Motile cilia typically have a _____ arrangement.
9+2 microtubule
What is the incidence rate of ciliopathies?
1:100,000
What is the incidence rate of ADPKD?
1:1000
Basal bodies are _____ cylinder shaped structures formed from nine triplet microtubules
microtubule rich
Occipital meningoencephalocele
Neural tube defects with hernial protrusion of the brain material
How many genes are known to be mutated in ciliopathies?
50
Lung hypoplasia
Incomplete lung development
BBS proteins participate in a protein complex that is required for _____ within the cilium.
vesicle transport
Major cilia domains include the centriole/basal body, _____, transition zone, ______, and intraflagellar transport (IFT) machinery.
axoneme; ciliary membrane
Renal hypodysplasia or dysplasia
Abnormal or missing kidney formation
_____ typically have a 9+2 microtubule arrangement.
Motile cilia
Activation and repression of the target of the _____ requires cilia.
Hh paracrine signaling pathway
Major cilia domains include the ______, axoneme, ______, ciliary membrane, and _____.
centriole/basal body; transition zone; intraflagellar transport (IFT) machinery
Basal bodies are derived from ______.
centrioles
ARPKD is caused by ______ mutations.
fibrocystin
_____ are the core anchors from which cilia are formed.
Basal bodies
Amnosia
Loss in olfaction
____ are microtubule rich cylinder shaped structures formed from nine triplet microtubules
Basal bodies
______ provide the tracks for movement within cilia.
Axonemes
How is cargo transported along the axoneme?
intraflagellar transport (IFT)
Cystic kidneys
Multilumen formation and growth of fluid filled cysts
What is required for cilium formation and function?
anterograde and retrograde intraflagellar transport
Why is the cilia used for cell signaling?
the cilium concentrates the signal with a high receptor surface to volume ratio
Activation and repression of the target of the Hh paracrine signaling pathway requires _____.
cilia
Cilium lengths range from _____ to ______.
less than a micron; tens of microns
What is the incidence rate of ARPKD?
1:20,000
Centriole duplication occurs during the _____ phase of the cell cycle.
G1 to S
Many proteins of the _____, when absent or defective, are associated with human ciliary diseases (ciliopathies).
transition zone
Basal bodies are typically ______ in diameter and _____ in length.
150-200 nm; 500 nm
Axonemes also provide ______.
the tracks for movement within cilia
Basal bodies are the core anchors from which ____ are formed.
cilia
________ are derived from centrioles.
Basal bodies
_____ occurs during the G1 to S-phase
Centriole duplication
