2nd Place

 

Sagan Ghim

Oregon Health and Services University

Teacher: Richard Rosenbaum

 

 

In 1969, at the time that the first gene was isolated, it was thought that genes were discrete segments of DNA that coded for protein products. It seemed reasonable at the time to believe that the 80,000 plus messenger RNA (mRNA) molecules that coded for the proteins in our body would correspond to an equal number of genes. Today, however, we know that there are fewer than 20,000 genes in our genome. (de Klerk, 2015). Alternative splicing is one phenomenon behind how so few genes can yield such an enormous number of unique proteins. . .

 

. . . You could think of alternative splicing like creating words with scrabble tiles. With the letters F-R-I-E-N-D, you could also create the words fed, fiend, rend, red, end, etc. Introns and exons, like letters, can be sequenced in different ways to yield different and numerous products.


The PARK2 gene, which codes for the parkin protein, was originally believed to have only 12 exons that encoded for a single transcript. Today, there is evidence that there are many exonic sequences that can be either included or skipped during splicing that account for the 21 PARK2 splice transcripts we know of today. These encode for a large variety of proteins isoforms with unique structures and compositions. Defects in the splicing process cause incorrect transcripts resulting in incorrect proteins. This is one of the causes for autosomal recessive early onset Parkinsonís (Scurderi, 2015). . .

 

. . . The human genome provides the instructions for each of our complete genetic makeup. With only an estimated 20,000 genes, our protein diversity is thanks to the process of alternative splicing which allows one gene to produce many different proteins products. When the process goes smoothly, itís what makes us complex, efficient, and regulates us.