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M2M Unit IV > Cilia and Ciliopathies > Flashcards

Cilia and Ciliopathies Flashcards

1
Q

The distinguishing factor between motile and immotile cilia is the presence of ________.

A

axonemal dynein arms between the doublet microtubules

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2
Q

The ciliary membrane is continuous with the cellular _____.

A

plasma membrane

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2
Q

How many genes are known to be mutated in BBS?

A

19

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4
Q

An estimated _____proteins are coordinated to form the cilium.

A

1,000

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4
Q

Microphthalmia

A

Small eye developmental disorder

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5
Q

The ______ is the structural skeleton of the cilium.

A

axoneme

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5
Q

Nephronophthisis

A

Progressive renal damage

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5
Q

Polydactyly

A

extra digit on the ulnar side of hand or foot

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6
Q

Cilia can sense ____ and ____ stimuli.

A

physical; chemical

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6
Q

situs inversus

A

Left-right laterality defects to randomize organ position

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6
Q

How is PKD inherited?

A

both autosomal dominant and recessive forms

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7
Q

What is anterograde transport?

A

movement towards the ciliary tip

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9
Q

The transition zone links the ____ to the ____ and to the ______.

A

basal body; axoneme; ciliary membrane

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9
Q

______, ________, or _________ possess a 9+0 microtubule arrangement.

A

Non-motile, sensory or primary cilia

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10
Q

Ciliogenesis normally occurs during ____ phase of the cell cycle.

A

G1 (or G0)

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12
Q

The basal body is formed beginning at the _____ and the distal-end is responsible for _____.

A

basal body; nucleating the cilium

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13
Q

_____ is caused by mutations in polycystin-1 and polycystin-2.

A

ADPKD

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14
Q

How does retrograde transport occur?

A

by cytoplasmic dynein 2 motor driven transport with the IFT-A protein complex

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14
Q

What establishes left-right asymmetry of the lateral body plane?

A

the ciliary node

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14
Q

What does the beating of the ciliary node cilia do?

A

produces a net leftward flow of signaling molecules/morphogens

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15
Q

Where does ciliogenesis begin?

A

at the distal end of the basal body

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16
Q

Which centriole becomes the basal body?

A

the older one (the mother centriole?

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17
Q

ADPKD is caused by mutations in _____ and _____.

A

polycystin-1; polycystin-2

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18
Q

What is the purpose of the ciliary node?

A

establishes left-right asymmetry of the lateral body plane

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19
Q

The ______ is formed beginning at the proximal-end and the distal-end is responsible for nucleating the cilium.

A

basal body

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20
Q

_____ is caused by fibrocystin mutations.

A

ARPKD

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22
Q

The _____ is formed from doublet microtubules (A-B tubules) that assemble from the A- and B-tubules of the basal body.

A

axoneme

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23
Q

Non-motile, sensory or primary cilia possess a _______.

A

9+0 microtubule arrangement

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24
Q

How is Bardet-Biedl Syndome (BBS) inherited?

A

autosomal recessive

25
Q

The hedgehog (Hh) signaling pathway is well established to signal through ____.

A

cilia

26
Q

The ______ links the basal body to the axoneme and to the ciliary membrane.

A

transition zone

27
Q

_____ normally occurs during G1 (or G0).

A

Ciliogenesis

28
Q

The _____ is continuous with the cellular plasma membrane.

A

ciliary membrane

29
Q

What does BBS stand for?

A

Bardet-Biedl Syndome

30
Q

The _____ signaling pathway is well established to signal through cilia.

A

hedgehog (Hh)

31
Q

The axoneme is formed from ______ that assemble from the_______ of the basal body.

A

doublet microtubules (A-B tubules); A- and B-tubules

31
Q

What does PKD stand for?

A

Polycystic Kidney Disease

32
Q

What is intraflagellar transport (IFT)?

A

bidirectional transport with kinesin motors and the IFT-B protein complex directing movement to the ciliary tip

33
Q

Motile cilia typically have a _____ arrangement.

A

9+2 microtubule

34
Q

What is the incidence rate of ciliopathies?

A

1:100,000

35
Q

What is the incidence rate of ADPKD?

A

1:1000

37
Q

Basal bodies are _____ cylinder shaped structures formed from nine triplet microtubules

A

microtubule rich

38
Q

Occipital meningoencephalocele

A

Neural tube defects with hernial protrusion of the brain material

39
Q

How many genes are known to be mutated in ciliopathies?

A

50

40
Q

Lung hypoplasia

A

Incomplete lung development

41
Q

BBS proteins participate in a protein complex that is required for _____ within the cilium.

A

vesicle transport

42
Q

Major cilia domains include the centriole/basal body, _____, transition zone, ______, and intraflagellar transport (IFT) machinery.

A

axoneme; ciliary membrane

43
Q

Renal hypodysplasia or dysplasia

A

Abnormal or missing kidney formation

45
Q

_____ typically have a 9+2 microtubule arrangement.

A

Motile cilia

47
Q

Activation and repression of the target of the _____ requires cilia.

A

Hh paracrine signaling pathway

48
Q

Major cilia domains include the ______, axoneme, ______, ciliary membrane, and _____.

A

centriole/basal body; transition zone; intraflagellar transport (IFT) machinery

49
Q

Basal bodies are derived from ______.

A

centrioles

50
Q

ARPKD is caused by ______ mutations.

A

fibrocystin

52
Q

_____ are the core anchors from which cilia are formed.

A

Basal bodies

53
Q

Amnosia

A

Loss in olfaction

54
Q

____ are microtubule rich cylinder shaped structures formed from nine triplet microtubules

A

Basal bodies

56
Q

______ provide the tracks for movement within cilia.

A

Axonemes

57
Q

How is cargo transported along the axoneme?

A

intraflagellar transport (IFT)

59
Q

Cystic kidneys

A

Multilumen formation and growth of fluid filled cysts

60
Q

What is required for cilium formation and function?

A

anterograde and retrograde intraflagellar transport

61
Q

Why is the cilia used for cell signaling?

A

the cilium concentrates the signal with a high receptor surface to volume ratio

62
Q

Activation and repression of the target of the Hh paracrine signaling pathway requires _____.

A

cilia

63
Q

Cilium lengths range from _____ to ______.

A

less than a micron; tens of microns

64
Q

What is the incidence rate of ARPKD?

A

1:20,000

65
Q

Centriole duplication occurs during the _____ phase of the cell cycle.

A

G1 to S

66
Q

Many proteins of the _____, when absent or defective, are associated with human ciliary diseases (ciliopathies).

A

transition zone

67
Q

Basal bodies are typically ______ in diameter and _____ in length.

A

150-200 nm; 500 nm

68
Q

Axonemes also provide ______.

A

the tracks for movement within cilia

69
Q

Basal bodies are the core anchors from which ____ are formed.

A

cilia

70
Q

________ are derived from centrioles.

A

Basal bodies

71
Q

_____ occurs during the G1 to S-phase

A

Centriole duplication

M2M Unit IV (11 decks)

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