Biology Project- Rough Draft

Question: 'The impact of a mutation in the MCPH2 gene in brain development'

Independent Variable: Mutation in the MCPH2 gene
Dependent Variable: Brain and head size in children

Introduction
What is the MCPH2 gene?
Relevant findings for the same

Content
Part 1
Making an ordinary MCPH2 gene by showing the sequence of the mRNA using RNA
base-pairing rules, and then using a genetic codon chart to translate the sequence into a sequence
of amino acids.

We will take the genetic code of two patients, one with normal head size and one with smaller
brain and head size. We will then compare these genetic codes to identify any mutations.

The mutated gene shows frameshift mutation.

- Definition
- Explanation

Part 2
Since we couldn’t identify how the patients with mutations in MCPH2 had smaller brains and
retardation, we shifted to studying the mutation in a well-known animal model system:
Drosophila Melanogaster/fruit-fly. Brain development in the larval stages is very similar to
human brain development. So we proceeded to create the mutation in Patient 1 in flies and
observe brain development in mutated larvae compared to normal larvae
We will then use secondary data as shown in the picture above to compare the brain scans of
mutant and normal larvae.

Neuroblasts are the stem cells in the brain that multiply to generate the appropriate amount of
differentiating cells that form neurons. Upon seeing a difference we decided to do a comparison
to see if metaphase and mitotic figures are normal

(Secondary data to be used)

Part 3

Live Imaging

Lastly, we did live imaging of neuroblasts to verify if the cell cycle was impacted by the
mutation, with movies of the imaging provided to us as secondary data. We imaged centrosomes
and microtubules. We will then describe the differences between the normal and mutant ones.

The difference can be in stages of cell cycle, the length of the cell cycle or centrosome behavior.

Conclusion
Based on these experiments, we will be able to conclude what happened to the patients and
determine the changes in the cell cycle brought out by mutations in the MCPH2 gene which
results in microcephaly. The same will be elaborated on.

Summary of project

Bibliography