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  • ACTN3 from https://upload.wikimedia.org/wikipedia/commons/3/33/Protein_ACTN3_PDB_1tjt.png

    The Science Behind the ACTN3 Polymorphism

    Learning Objectives
    This article accompanies the lesson "The ACTN3 Polymorphism: Applications in Genetics and Physiology Teaching Laboratories." Learning objectives for the lesson include:
    1. Test hypotheses related to the role of ACTN3 in skeletal muscle function.
    2. Explain how polymorphic variants of the ACTN3 gene affect protein structure and function.
    3. List and explain the differences between fast twitch and slow twitch muscle fibers.
    4. List and explain possible roles of the ACTN3 protein in skeletal muscle function.
    5. Find and analyze relevant scientific publications about the relationship between ACTN3 genotype and muscle function.
    6. Formulate hypotheses related to the relationship between ACTN3 genotype and skeletal muscle function.
    7. Design experiments to test hypotheses about the role of ACTN3 in skeletal muscle function.
    8. Statistically analyze experimental results using relevant software.
    9. Present experimental results in writing.
  • Students using the Understanding Eukaryotic Genes curriculum to construct a gene model. Students are working as a pair to complete each Module using classroom computers.

    An undergraduate bioinformatics curriculum that teaches eukaryotic gene structure

    Learning Objectives
    Module 1
    • Demonstrate basic skills in using the UCSC Genome Browser to navigate to a genomic region and to control the display settings for different evidence tracks.
    • Explain the relationships among DNA, pre-mRNA, mRNA, and protein.
    Module 2
    • Describe how a primary transcript (pre-mRNA) can be synthesized using a DNA molecule as the template.
    • Explain the importance of the 5' and 3' regions of the gene for initiation and termination of transcription by RNA polymerase II.
    • Identify the beginning and the end of a transcript using the capabilities of the genome browser.
    Module 3
    • Explain how the primary transcript generated by RNA polymerase II is processed to become a mature mRNA, using the sequence signals identified in Module 2.
    • Use the genome browser to analyze the relationships among:
    • pre-mRNA
    • 5' capping
    • 3' polyadenylation
    • splicing
    • mRNA
    Module 4
    • Identify splice donor and acceptor sites that are best supported by RNA-Seq data and TopHat splice junction predictions.
    • Utilize the canonical splice donor and splice acceptor sequences to identify intron-exon boundaries.
    Module 5
    • Determine the codons for specific amino acids and identify reading frames by examining the Base Position track in the genome browser.
    • Assemble exons to maintain the open reading frame (ORF) for a given gene.
    • Define the phases of the splice donor and acceptor sites and describe how they impact the maintenance of the ORF.
    • Identify the start and stop codons of an assembled ORF.
    Module 6
    • Demonstrate how alternative splicing of a gene can lead to different mRNAs.
    • Show how alternative splicing can lead to the production of different polypeptides and result in drastic changes in phenotype.