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Genetics

  • Human karyotype

    Homologous chromosomes? Exploring human sex chromosomes, sex determination and sex reversal using bioinformatics...

    Learning Objectives
    Students successfully completing this lesson will:
    • Practice navigating an online bioinformatics resource and identify evidence relevant to solving investigation questions
    • Contrast the array of genes expected on homologous autosomal chromosomes pairs with the array of genes expected on sex chromosome pairs
    • Use bioinformatics evidence to defend the definition of homologous chromosomes
    • Define chromosomal sex and defend the definition using experimental data
    • Investigate the genetic basis of human chromosomal sex determination
    • Identify at least two genetic mutations can lead to sex reversal
  • 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.
  • Reprinted by permission from Macmillan Publishers Ltd.

    A Hands-on Introduction to Hidden Markov Models

    Learning Objectives
    • Students will be able to process unannotated genomic data using ab initio gene finders as well as other inputs.
    • Students will be able to defend the proposed gene annotation.
    • Students will reflect on the other uses for HMMs.
  • Normal Arabidopsis plants (A) have flat, spatula shaped leaves. asymmetric leaves2 (as2) mutant plants (B) have leaves that are curled under and slightly twisted. asymmetric leaves1(as1) mutant plants (C) have leaves that are curled under and twisted but also have reduced petioles.  In the laboratory activities I present, students analyze the sequence of the as1 and as2 alleles and computationally model the wild-type and mutant proteins. Visualizing the 3-D structure of the proteins helps students understan

    Using computational molecular modeling software to demonstrate how DNA mutations cause phenotypes

    Learning Objectives
    Students successfully completing this lesson will:
    1. Practice basic molecular biology laboratory skills such as DNA isolation, PCR, and gel electrophoresis.
    2. Gather and analyze quantitative and qualitative scientific data and present it in figures.
    3. Use bioinformatics to analyze DNA sequences and obtain protein sequences for molecular modeling.
    4. Make and analyze three-dimensional (3-D) protein models using molecular modeling software.
    5. Write a laboratory report using the collected data to explain how mutations in the DNA cause changes in protein structure/function which lead to mutant phenotypes.