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Study Sheet Sickle Cell Anemia 1) Differences in the HBB/HBS nucleotide sequences Record the position and type of the differences o _______________________ o _______________________ o _______________________ o _______________________ 2) Differences in the HBB/HBS amino acid sequences Record the position and type of the differences o _______________________ o _______________________ o _______________________ o _______________________ _____________________________________________________________________________ * Record the position, type, and length of the mutation in bz-mutable: _____________________ _____________________________________________________________________________ 2) Corn revertants * What is the difference between bz-mutable and its revertant? __________________________ ___________________________________________________________________________ * What is the difference between the wildtype and the revertant? _______________________ ___________________________________________________________________________ * What led to the color reversion? _________________________________________________ ___________________________________________________________________________ * Why does bz-stable not revert? __________________________________________________ ___________________________________________________________________________ 3) Maize transposons * How long are typical Ac (Activator) elements? ____________________________________ * How long are typical Ds (Dissociator) elements? ____________________________________ * What enables Ac (Activator) to move? _____________________________________________ ___________________________________________________________________________ ___________________________________________________________________________ * What enables Ds (Dissociator) to move? ___________________________________________ ___________________________________________________________________________ ___________________________________________________________________________ * What is the relationship between Ac and Ds? ______________________________________ ___________________________________________________________________________ ___________________________________________________________________________ 4) Museum * Longest human chromosome: ____ Size: ___________________ bp * Shortest human chromosome: ____ Size: ___________________ bp * X chromosome: X Size: ___________________ bp * Y chromosome: Y Size: ___________________ bp * Mitochondrial DNA mtDNA Size: ___________________ bp * Human genome 1-22, X, Y, mtDNA Size: ___________________ bp * What are the two conflicting theories about human migration called and what is the major difference between them? 1: ________________________________ versus 2: __________________________________ 1: Modern humans are derived from hominids which left Africa about ____________ years ago. 2: Modern humans are derived from hominids which left Africa about ____________ years ago. 5) Patient * What enzyme is affected in the patient? ___________________________________________ * What is the function of this enzyme? _____________________________________________ * What chromosome is the gene for this enzyme located on? ____________________________ * How long is the gene (in bp)? ___________________________________________________ * How many exons and introns does it consist of? _____________________________________ * Where on the chromosome is the gene located? _____________________________________ * What genes surround this gene? _________________________________________________ * How long is the coding sequence for this gene? _____________________________________ * How long is the protein (in aa)? __________________________________________________ * What does HMBS stand for? ____________________________________________________ 6) Mutation in HMBS * Record the position, type, and length of the mutation: _________________________________ _____________________________________________________________________________ * How does the mutation affect the formation of the HMBS protein? _______________________ _____________________________________________________________________________ * What is the nature of the mutagenic agent? ________________________________________ 7) Transposons in Humans * How do Alu elements appear in new positions in the genome? _________________________ ___________________________________________________________________________ * Alu does not carry any genes; how can it “move”? ___________________________________ ___________________________________________________________________________ * Compare and contrast Ac and Ds elements with Alu and LINE L1 elements; what do these two systems have in common? How do they differ? _____________________________________ ___________________________________________________________________________ ___________________________________________________________________________ ___________________________________________________________________________ * Name three characteristics of Alu elements: ________________________________________ ___________________________________________________________________________ * Name three characteristics of LINE L1 elements: ____________________________________ ___________________________________________________________________________ * How many Alu/L1 elements does the human genome contain? _________________________ * Why could it be misleading to say that Alu or L1 elements jump? _______________________ ___________________________________________________________________________ 8) Jumping genes across kingdoms * Name three species in which transposons have been identified: ________________________ ___________________________________________________________________________ * Name three species in which retroposons have been identified: ________________________ ___________________________________________________________________________ 9) Jumping genes across millenia * When can Alu insertions serve as polymorphic markers? ______________________________ * Which allele is ancestral, the one that carries an insertion or the one that doesn’t? __________ 11) Links * http://www.dnai.org/lesson/42118 (Lesson materials) * http://www.geneticorigins.org/ (Background info and wet labs) * http://www.bioservers.org/ (Sequence alignments) * http://www.dnalc.org/ (DNALC homepage) * http://www.ncbi.nlm.nih.gov/ (Bioinformatics Central) * Instructor: Uwe Hilgert, PhD - [email protected]
