Molecular Basis of Insulin Receptor Function Using NCBI Tools

• Kelly Vaughan, Ph.D., Associate Professor and Chair of Biology, King University (Team Leader), lkvaughan@king.edu
• Kehinde Idowu, Ph.D., Texas Southern University
• Jeffrey Robinson, Ph.D., Biostatistics and Bioinformatics faculty, UMBC Translational Life Science Technology BS program.
• Katie Sandlin, M.S., Genomics Education Partnership / The University of Alabama

Project Summary

Students will explore the structure and evolutionary relationships in the insulin receptor while being introduced to the genetic basis of disease.

Target Audience: Students that have successfully completed a majors level introductory biology course or equivalent. This exercise is intended to be completed as a guided case study completed in a 3 hour lab, distributed across lectures or hybrid between in person and self-directed work.

Prerequisite Knowledge: Understanding of the Central Dogma, familiarity with protein structure and signaling cascades

NCBI Resources Utilized: iCn3D, ClinVar, dbSNP, BLAST, COBALT, Comparative Genome Viewer, NCBI Gene, Structure, NLM Bookshelf, OMIM

Other Resources: PDB, GeneCards, Reactome

Curricular Package Details

Learning Objectives

• (Introduction) Learn about the roles and interactions of insulin with the insulin receptor
• (Module 1) Explore clinical sequence variations in molecular structure
  • Use the iCn3D app to visualize protein structure
  • Become familiar with basic functions and modifications available in the iCn3D interface
  • Become familiar with the structure of the Insulin Receptor protein
  • Use iCn3D to investigate mutations in the insulin receptor associated with Leprechaunism
  • Use iCn3D to identify molecular interactions between mutated amino acid residues and other amino acids
• (Module 2) Use NCBI tools for data search and gene and protein sequence comparison
• (Module 3) Discuss implications of genetics on disease

Course Materials

Introduction The introduction to the lesson provides background information on the roles and interactions of insulin with the insulin receptor and one ramification of perturbations to the insulin signaling pathway-Type 2 Diabetes. Lesson File: Introduction.pdf

Module 1. Insulin Receptor mutations in Leprechaunism (Donohue Syndrome), an example of a rare Mendelian mutation to the INSR-Insulin interaction domain. NCBI Tools: iCn3D, dbSNP, ClinVar Lesson File: INSR.pdf

Module 2. Comparative sequence alignment between cat, dog, and human INSR protein and nucleotide sequences showing specific regions of high sequence conservation and variation. NCBI Tools: Comparative Genome Viewer (CGV), BLASTn, COBALT Lesson File: Sequence_Comparison.pdf

Module 3. Connecting the dots from gene to protein to disease NCBI Tools: MedGen, OMIM, GeneReviews, MedlinePlus, ClinVar

Assessments

Explain how student learning will be evaluated (e.g., quizzes, assignments, projects).

Future Work

Optional section. Briefly mention any potential future development plans for the curriculum package.

NCBI Codeathon Disclaimer

This project was created as part of the BioEd Summit Curricula-thon, a week-long event focused on collaborative development of data-driven learning experiences. While we encourage you to explore and adapt this project, please be aware that NCBI does not provide ongoing support for it.

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