Physical 3D printed protein models, when used creatively in biology teaching, can enhance student understanding. Our study reveals that teachers’ pedagogical knowledge of these models is critical to optimizing learning. We found that a teacher’s deep knowledge of how to teach a specific content was reflected in how they approached the topic of “genetic variation,” focusing on the subtopic of “mutation as a source of genetic change contributing to biological diversity.” We studied the case of “Snowflake,” a unique albino gorilla whose genetic condition was caused by a point mutation in the SLC45A2 gene. This mutation involves a one-nucleotide change that alters the structure and function of the protein responsible for transporting the enzyme tyrosinase into melanosomes, affecting melanin production and leading to albinism (OCA 4). The students obtained the protein's amino acid sequence in its wildtype and mutated versions to model three-dimensional structures using bioinformatics tools, and they also 3D printed the models to visually analyze the structural differences. The mutated protein showed a folding that prevents its normal function, while the wildtype protein has a structure suitable for its activity. The work highlights how a minimal genetic change can have profound effects and how three-dimensional models improve the understanding and teaching of these phenomena in high school students at the Universidad Nacional Autónoma de México.

Keywords: Physical 3D printed protein models, biology education, protein function, mutations.