Lecture 6: Developmental Genetics of Human Brain

Question 1

What can defects in brain develop lead to?

Answer 1

• Epilepsy
• Learning/Intellectual disabilities
• Autism Spectrum Disorder
• Brain Cancer

Question 2

What is the oldest way of looking at the brain?

Answer 2

Pathology

Question 3

What is most used to view the brain now?

Answer 3

MRI

Question 4

Why is pathology through MRI not as useful as genetics?

Answer 4

Genetics is useful to understand what causes normal and abnormal development

Question 5

What does Karyotype, CGH, and Next-generation Sequencing looking at?

Answer 5

• Karyotype - full chromosome
• CGH - Section of DNA missing
• Next-generation Sequencing - Single Base Pair

Question 6

What is the Telencephalon?

Answer 6

Another name for the Cortex or the outer part of the brain

Question 7

What is the Rhombencephalon?

Answer 7

The Brainstem

Question 8

What are the three parts of the Brainstem?

Answer 8

• Medulla oblongata
• Pons
• Diencephalon

Question 9

What is Gastrulation?

Answer 9

The formation of 3 layers of cells

Question 10

What are the three layers of cells?

Answer 10

• Endoderm
• Mesoderm
• Ectoderm (neuron, skin)

Question 11

What does the Ectoderm end up forming?

Answer 11

Neurons and skin

Question 12

What is Neuralation?

Answer 12

The formation of the neural tube from a flat layer of ectodermal cells

Question 13

Which layer of cells undergoes Neurulation?

Answer 13

The ectodermal cells

Question 14

What is the Sonic Hedgehog Gene?

Answer 14

A gene that is expressed in many steps of brain development

Question 15

Which cells begin to express the SHH?

Answer 15

The notochord

Question 16

What does the notochord expressing sonic the hedgehog do?

Answer 16

Causes expression of the SHH in the floor plate

Question 17

What genes are secreted from the ectoderm?

Answer 17

BMP

Question 18

Which genes are expressed dorsally and ventrally in Neuralation?

Answer 18

TGF and BMP are expressed dorsally. SHH is expressed ventrally

Question 19

Which part of the neural tube closes first?

Answer 19

The Anterior pore followed by the posterior pore

Question 20

What causes Anencephaly?

Answer 20

Defect of the anterior neuropore closure

Question 21

What causes Spinabifiida?

Answer 21

Failure of closure of the posterior pore

Question 22

Which pore not closing will patients survive?

Answer 22

Failure of closure of the posterior pore

Question 23

What does the anterior part of the neural tube do?

Answer 23

Splits into two prosencephalic vesicles

Question 24

What occurs during Prosencephalic development?

Answer 24

The splitting of the neural tube

Question 25

What is Holoprosencephaly?

Answer 25

The failure of cleavage of the two hemispheres

Question 26

Which gene is involved in the Holoprosencephaly?

Answer 26

The sonic the hedgehog gene

Question 27

What is Mobius Syndrome?

Answer 27

Congenital partial or complete facial diplegia

Question 28

What is the cause of möbius syndrome?

Answer 28

Hoxb-1 and Hoxb-4 genes

Question 29

What occurs in Neuronal Proliferation?

Answer 29

Making the hemispheres bigger

Question 30

What is hemi-megalencephaly?

Answer 30

A hemisphere is bigger than another one

Question 31

How many layers in the human cortex?

Answer 31

Six

Question 32

What occurs in neuronal migration?

Answer 32

The neurons are born in the center periventricular zone and migrates out of progenitor glial cells

Question 33

What is Periventricular Nodular Heteropia?

Answer 33

When neurons don’t migrate outward properly

Question 34

What is the functions of the bumps on the brain?

Answer 34

Allows the brain to pack more tissue