Mutation Story

Hello, I am Gene the NBS1 gene, and this is how I was mutated by Nijmegen breakage syndrome, also known as Berlin breakage syndrome and Seemanova syndrome.

It all started when my host Billy’s NBS1 gene (me) was mutated, due to two copies of the defective gene, one from each parent, who were both carriers of the defective gene but not affected by it. This mutation caused me to no longer be able to repair DNA breaks, and to stop the cell cycle when DNA has errors.

This also affected poor Billy, and in a lot of ways. The first was that is gave him short stature, distinct facial features, and a smaller than normal head, all common symptoms of Nijmegen breakage syndrome. This would later lead to him being made fun of by some other kids. Some even more serious symptoms were that he would have a much larger chance of cancer, he would have immunodeficiency (his immune system doesn’t work properly), and radiation sensitivity. All of these made Billy’s life very hard.

Unfortunately, this affected Billy forever, and made life harder.

Making of the Story:
I had to research the causes of the mutation, what it did, and what it caused to the host. I also had to know how people were able to get it.

I used Google to get to my sources and Edublog to put the information together.

I got my questions and researched them all, then collected the data and at the end put it into a story.

I looked at several different websites to see if anything correlated and if anything was contradicted. I then used what was the majority and what was from the most trusted sites to get the best information. I also looked at the genes affected by the mutation to learn more about those and learn about what they did when left without mutation.

The process wasn’t too hard, I simply took all the steps I mentioned earlier and made my story, although I struggled to find more than a little bit of information. Something I could have done better was to try even more to find more information.

Sources:

Nijmegen Breakage Syndrome 1

Nijmegen Breakage Syndrome 2

Nijmegen Breakage Syndrome 3

NBS1/Nibrin 1

NBS1/Nibrin 2