1. Humans are complicated creatures. The formation of our limbs is just one simple example of how complicated our body can be and what ‘techniques’ it uses to form itself. Our hands develop along three axes: posterior-anterior (thumb to pinky), distal-proximal (tips of fingers to wrist), and dorsal-ventral (back of hand to palm). The first axis (the posterior-anterior axis) allows the formation of your fingers in the correct order. The way it does this is by producing a protein called ‘Sonic hedgehog’ (Shh) which, depending on its gradient, will form all your different digits. Thumbs, for instance, form when Shh concentration is high, whereas pinkies form when Shh concentrations are low. Conditions such as polydactyly (more than 5 fingers) occur when the levels of Shh are abnormal, which can be due to mutations in both the protein itself and DNA sequences that regulate the rate of protein production. Protein production can be controlled in various ways, including using ‘enhancer’ regions that loop DNA and allow the proper machinery to express the proper genes. An example of an enhancer is the area found in the OCA2 system, which controls eye colour in humans. This enhancer was shown to interact with the promoter for OCA2 gene, and that when the enhancer is mutated, there is less interaction with OCA2. Thus, individuals with poor interactions within the OCA2 system have eyes that are blue instead of brown. These two examples are only two of the many ways our bodies can regulate growth, and it is of interest to all kinds of people (patients, physicians, researchers, genetic counsellors) to understand how these pathways work.
2. The hardest part about answering question 1 for me was being able to pick out the ‘main’ points in our discussion. This includes both filtering out the scientifically relevant points, but also knowing which points are important in a “summary for the public”-style paragraph. It is much easier writing a summary using scientific language because you can use common acronyms, terms, or ideas to help shorten your paragraph. In layman’s words, however, you have to elaborate on each idea in order to fully explain what is happening—which makes it difficult to choose what is worth including or not.