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Table 3 Short description on ancestral SRGAP2 function

From: Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex

Gene

mRNA expression

Protein expression

Function

Knockout

Knockdown

Overexpression

SRGAP2a

↑ Proliferative zone (VZ and SVZ)

↑ Postmitotic regions (CP)

↑ throughout cortical development culminating at P1 corresponding to the peak of neuronal migration in the cortex

negatively regulate the rate of radial migration by promoting LP branching and dynamics

stage 1 neurons:

through its F-BAR domain, induces filopodia

stage 2 neurons:

↑ significantly increased the total number of primary neurites emerging from the cell body

↑ increase the number of primary neurite branches

mice are viable (although born significantly below the expected Mendelian ratio)

No abnormality in cortical lamination

dendritic spine morphology:

↑ neck length

↑ spine density

Juvenile: ↓ head width

Adult: ↑ head width

↓ in cortical neurons led to a significant decrease in both axonal and dendritic branching

↑significant increase in the percentage of neurons that have reached the dense CP and a corresponding decreased percentage of neurons in the IZ

↑ accelerated radial migration

↓ LP in layer 5/6 was significantly less branched and less complex

dendritic spine morphology:

↑ neck length

↑ spine density

Juvenile: ↓ head width

Adult: ↑ head width

significantly reduced the number of cells reaching the CP

↓severely inhibited radial migration

↑increase in the percentage of neurons with multiple processes emerging from the cell body – induce excessive branching of radially migrating neurons

no transition from multipolar cells to a full LP (no cell body translocation)

↑ spine heads

↓ spine neck

↑ enlargement of dendritic spines

  1. VZ ventricular zone
  2. SVZ subventricular zone
  3. CP cortical plate
  4. LP leading process
  5. IZ intermediate zone
  6. aFunction of ancestral SRGAP2