L17 - Axon Guidance Flashcards by Isabella Smyth | Brainscape

Q

L1CAM

A

adhesion molecule encoded by X-linked gene

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Q

L1CAM disorders

A

CRASH syndrome
hydrocephalus
spastic paraplegia

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Q

Defective axon pathfinding causes

A

neurological diseases

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Q

Spastic paraplegia cause

A

failure of CST to project beyond cervical regions

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Q

L1CAM KO

A

axon guidance defects

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Q

ROBO3 mutations cause

A

horizontal gaze palsy
progressive scoliosis
midline crossing defects

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Q

Mutations in heritable neurological defects

A

mutation in individual gene

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Q

Kallmann’s syndrome symptoms

A

congenital anosmia

hypogonadism

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Q

Kallmann’s neurons

A

GnRH neurons fail to migrate to hypothalamus

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Q

Kallmann’s genes

A

FGFR1, FGF8, SEMA3A, SEMA7A

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Q

Required for olfactory epithelial axon guidance

A

sema3a

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Q

GnRH migration

A

use olfactory epithelial neurons as guidance

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Q

SEMA7A function

A

adhesive substrate for GnRH migration

directly guides GnRH precursors

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Q

common neurodevelopment disorders causes

A

complex multigenic origins

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Q

Robust

A

to developmental disruption

allows accumulation of genetic variation

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Q

Critical to development

A

Balance between robustness and variability

Q

Examples of variability

A

drosophila locomotor turning

turn bias

Q

turn bias is

A

heritable

Q

Stochastic differences in connectivity underlie

A

behavioural personalities

Q

Notch signalling

A

determines axon number innervating the medulla

Q

narrow variability

A

less likely to cross disease phenotype threshold