Diverse outcomes of homologous recombination in the human Y chromosome
Thesis (Ph. D.)--Massachusetts Institute of Technology, Dept. of Biology, 2008.
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| Format: | Thesis |
| Language: | eng |
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Massachusetts Institute of Technology
2008
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| Online Access: | http://hdl.handle.net/1721.1/42400 |
| _version_ | 1811084424543993856 |
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| author | Lange, Julian H. (Julian Hendrik) |
| author2 | David C. Page. |
| author_facet | David C. Page. Lange, Julian H. (Julian Hendrik) |
| author_sort | Lange, Julian H. (Julian Hendrik) |
| collection | MIT |
| description | Thesis (Ph. D.)--Massachusetts Institute of Technology, Dept. of Biology, 2008. |
| first_indexed | 2024-09-23T12:50:30Z |
| format | Thesis |
| id | mit-1721.1/42400 |
| institution | Massachusetts Institute of Technology |
| language | eng |
| last_indexed | 2024-09-23T12:50:30Z |
| publishDate | 2008 |
| publisher | Massachusetts Institute of Technology |
| record_format | dspace |
| spelling | mit-1721.1/424002019-04-10T16:18:33Z Diverse outcomes of homologous recombination in the human Y chromosome Lange, Julian H. (Julian Hendrik) David C. Page. Massachusetts Institute of Technology. Dept. of Biology. Massachusetts Institute of Technology. Dept. of Biology. Biology. Thesis (Ph. D.)--Massachusetts Institute of Technology, Dept. of Biology, 2008. Includes bibliographical references. Mammalian sex chromosomes began diverging from an ordinary pair of autosomes roughly 300 million years ago. Inversions in the evolving Y chromosome sequentially suppressed recombination with the X chromosome. While pseudoautosomal regions in the human Y chromosome still participate regularly in allelic homologous recombination, the male-specific region of the Y (MSY) - the only haploid portion of the nuclear genome - does not. It does, however, engage in non-allelic homologous recombination. In this thesis, I examine modes and outcomes of non-allelic homologous recombination in the MSY. The predictions presented here are based on the double-strand break repair model of recombination between homologous chromosomes, in which a double-strand break (DSB) is the common precursor to crossing over and gene conversion. First, I show that massive MSY-specific palindromes, which maintain arm-to-arm sequence identity via gene conversion, are also the targets of crossing over. Crossover events in palindromes can lead to isochromosome formation and diverse reproductive disorders including sex reversal, male infertility, and Turner syndrome. Second, I demonstrate that a region of the MSY - thought to be recombinationally suppressed with the X chromosome - does undergo extensive X-Y gene conversion. This region encompasses hotspots of ectopic crossover events that lead to X-Y translocations associated with sex reversal syndromes. Although sequences in the MSY engage in productive recombination via gene conversion, alternative resolution of DSBs by crossing over can produce evolutionary "dead ends". by Julian H. Lange. Ph.D. 2008-09-03T15:33:00Z 2008-09-03T15:33:00Z 2008 2008 Thesis http://hdl.handle.net/1721.1/42400 237105376 eng M.I.T. theses are protected by copyright. They may be viewed from this source for any purpose, but reproduction or distribution in any format is prohibited without written permission. See provided URL for inquiries about permission. http://dspace.mit.edu/handle/1721.1/7582 201 p. application/pdf Massachusetts Institute of Technology |
| spellingShingle | Biology. Lange, Julian H. (Julian Hendrik) Diverse outcomes of homologous recombination in the human Y chromosome |
| title | Diverse outcomes of homologous recombination in the human Y chromosome |
| title_full | Diverse outcomes of homologous recombination in the human Y chromosome |
| title_fullStr | Diverse outcomes of homologous recombination in the human Y chromosome |
| title_full_unstemmed | Diverse outcomes of homologous recombination in the human Y chromosome |
| title_short | Diverse outcomes of homologous recombination in the human Y chromosome |
| title_sort | diverse outcomes of homologous recombination in the human y chromosome |
| topic | Biology. |
| url | http://hdl.handle.net/1721.1/42400 |
| work_keys_str_mv | AT langejulianhjulianhendrik diverseoutcomesofhomologousrecombinationinthehumanychromosome |