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Exploring Chromosome Variation: Insights into Genetic Evolution

This presentation delves into the fascinating world of chromosome variation, discussing key concepts such as polyploidy, polytene chromosomes, and the impact of transposable elements on genome structure and evolution. Discover the significance of physical landmarks, deletions, and duplicative transposition in shaping genetic diversity. Explore the relationship between physical and genetic maps, and delve into methods like FISH and genome sequencing to study gene order and distances effectively.

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Exploring Chromosome Variation: Insights into Genetic Evolution

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  1. This presentation was originally prepared by C. William Birky, Jr. Department of Ecology and Evolutionary Biology The University of Arizona It may be used with or without modification for educational purposes but not commercially or for profit. The author does not guarantee accuracy and will not update the lectures, which were written when the course was given during the Spring 2007 semester.

  2. Section 16Variation in Chromosome Nunber and Structure

  3. Indian Muntjac 2N = 6/7 Chinese Muntjac 2N = 46

  4. Polytene Chromosomes Some insects, including Drosophila: During differentiation of some tissues (salivary glands, Malpighian tubules, etc.) cells go through repeated S phases (e.g. 10) without mitosis --> polyploid or polytene nuclei. Polytene chromosomes: all copies held tightly together and in alignment. Stain, see bands where DNA is more concentrated. PHYSICAL LANDMARKS!

  5. Bar Double-Bar

  6. Deletion of 8p23.1 Died age 3

  7. Note that most rearrangements may take place by crossing-over between repeats or other homologous DNA segments (segments with similar sequence). Duplicative transposition is a major source of such duplicated regions. If a transposable element invades a genome, it can spread and facilitate rearrangements. Thus it can increase variation in chromosome structure and eventually lead to evolution of new gene arrangements and new phenotypes. Transpsable elements can contribute to, or even give rise to, promoters and other regulatory sequences. Transposable elements can spread from one organism to another. e.g. P element was transferred from Drosophila willistoni (or a close relative) to Drosophila melanogaster, probably by a parasitic mite that sucks cytoplasm from fly eggs. The evolutionary origin(s) of transposable elements are unknown (last I heard).

  8. Physical and Genetic Maps Agree in Gene Order, Not Distances Reason: recombination frequencies aren’t uniform along chromosome. .

  9. Other Methods of Relating Physical and Genetic Maps • FISH • Finding genes in complete genome sequences.

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