Week 2 Tutorial

Question 1

What is the function of MECP2?

Answer 1

Responsible for transcriptional repression and binds to methylated DNA

Mutations in MECP2 are involved with Rett syndrome.

Question 2

What type of enzyme is KTM2D?

Answer 2

Histone methyltransferase involved in chromatin remodelling

Mutations in the gene responsible for KTM2D are associated with Kabuki syndrome.

Question 3

What is SHANK3 involved in?

Answer 3

Scaffolding protein in postsynaptic density connecting neurotransmitter receptors and ion channels

Mutations in SHANK3 are associated with ASD, schizophrenia, and Phelan-McDermid syndrome.

Question 4

What role does GRIN2B play in the cell?

Answer 4

Component of NMDA receptor complexes functioning as ligand-gated ion channels

GRIN2B has high calcium permeability and voltage-dependent sensitivity to magnesium.

Question 5

What does nTPM stand for?

Answer 5

Normalized transcripts per million

It allows for the comparison of gene expression across different tissues.

Question 6

Which gene is most highly expressed in neuronal cells in the prac?

Answer 6

GRIN2B

Question 7

Which gene is most highly expressed in blood and immune cells in the prac?

Answer 7

MECP2

Question 8

What is a practical implication of the difference in gene expression between neuronal and blood cells?

Answer 8

Easier access to human blood samples for research

Human brain samples are more difficult to obtain.

Question 9

What technique does the Allen Brain Atlas use?

Answer 9

Colorimetric IN SITU hybridization data at cellular resolution

Question 10

What is the purpose of IN SITU hybridization?

Answer 10

To detect nucleotide sequences in cells and tissue sections

Allows for precise localization of nucleic acids within histologic sections.

Question 11

At what embryonic stage is Pax6 highly expressed?

Answer 11

E11.5: Theiler stage

Question 12

In which anatomical region is Pax6 most highly expressed?

Answer 12

Prosomere 3 of the diencephalon

Question 13

Why is understanding gene expression in a spatial and temporal context important?

Answer 13

It helps understand how specific gene mutations lead to developmental disorders

Knowing when to treat and how to treat is crucial.

Question 14

Where is Pax6-GFP expressed in mouse embryos?

Answer 14

In the Telencephalon, Diencephalon, eyes, and spinal cord

Question 15

How can mouse models like Pax6 WT/IRES-GFP aid in understanding neurodevelopment?

Answer 15

Help identify structures containing specific genes in development

Useful for understanding human development due to the lack of human brain samples.