SHORT ESSAYS – CHAPTER 7 1 WHEN RECOMBINATION BETWEEN

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Study Questions – Chapter 1

Short Essays – Chapter 7

1. When recombination between repeats creates an aberrant Y chromosome with two centromeres, it turns out that the instability of this structure increases as the distance between the centromeres increases. Why might this be the case, and why might the sex chromosomes be the only chromosomes in the human complement with which such a phenomenon can be observed and studied? As you consider these questions please review Chapter 6 and also read “The hows and Ys of genome integrity” by Heather E. Hall and R. Scott Hawley in Cell , 2009;138:830–2.

2. TSIX is an anti-sense sequence transcribed from the opposite strand from the same region that encodes XIST. Why might we expect to see TSIX transcribed from one copy of the X chromosome while XIST is transcribed from the other copy of the X chromosome? What is the difference in the roles of XIST and TSIX? As you consider this question please read “New twists in X-chromosome inactivation” by Jennifer Erwin and Jeannie Lee in Current Opinion in Cell Biology , 2008;20:349–55.

3. As we think about the functional importance of the PAR there are two interesting questions that arise. What can comparison across species tell us about how important it is that particular specific genes are the ones located within that region? As you consider the answer to this question please read “The human pseudoautosomal region (PAR): Origin, function and future” by A. Helena Mangs and Brian J. Morris in Current Genomics , 2007;8:129–36.

4. Rett syndrome is an X-linked dominant trait, but some women turn out to be carriers instead of affected individuals. How can this happen? As you consider this question, please read “X chromosome inactivation in clinical practice” by Karen Helene Orstavik in Human Genetics , 2009;126:363–73.

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