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  Fine-scale analysis of mechanisms and controlling factors in a meiotic recombination hotspot in dogs (canis familiaris)

Jeschke, A. (2020). Fine-scale analysis of mechanisms and controlling factors in a meiotic recombination hotspot in dogs (canis familiaris). PhD Thesis, Christian-Albrechts-Universität, Kiel.

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Datensatz-Permalink: https://hdl.handle.net/21.11116/0000-0006-EE3B-D Versions-Permalink: https://hdl.handle.net/21.11116/0000-000D-4C70-0
Genre: Hochschulschrift

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Online_Thesis_final.pdf (Verlagsversion), 18MB
 
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 Urheber:
Jeschke, Alina1, 2, Autor           
Odenthal-Hesse, Linda2, Ratgeber           
Affiliations:
1IMPRS for Evolutionary Biology, Max Planck Institute for Evolutionary Biology, Max Planck Society, ou_1445639              
2Research Group Meiotic Recombination and Genome Instability, Department Evolutionary Genetics, Max Planck Institute for Evolutionary Biology, Max Planck Society, ou_2355693              

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 Zusammenfassung: Meiotic recombination re-shuffles genomes from one generation to the next. In
humans and most other mammals, meiotic recombination events are clustered in
1-2 kb wide recombination hotspots, whose locations are determined in trans by
the protein PR-domain containing 9 (PRDM9). Mice lacking PRDM9 direct
recombination to promoters and functional elements, resulting in meiotic defects.
Dogs (Canis familiaris) lack a functional copy of PRDM9, yet linkage data showed
that historical recombination events cluster in functional elements, suggesting that
there may be a mechanism enabling controlled recombination at these locations,
and in the absence of PRDM9. However nothing is known about the de-novo
activity of dog recombination hotspots and the patters of recombination resolution
in this PRDM9 deficient species. I investigated a dog recombination hotspot for
de-novo recombination events using pooled sperm typing, and uncovered high
crossover frequencies affecting up to 1 % of sperm. Frequencies can differ by one
order of magnitude between dogs. Fine-scale analysis of crossover-breakpoints
revealed wide distributions of breaks across up to 10 kb within the hotspot region.
I further detect asymmetric breakpoint distributions between crossover
orientations and crossover-associated transmission distortion, suggesting biased
recombination-initiation or -repair. This work is an elaborate fine-scale dissection
of a mammalian PRDM9-independent active recombination hotspot.

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Sprache(n): eng - English
 Datum: 2020-022020-05-202020-05-20
 Publikationsstatus: Erschienen
 Seiten: 164
 Ort, Verlag, Ausgabe: Kiel : Christian-Albrechts-Universität
 Inhaltsverzeichnis: -
 Art der Begutachtung: -
 Identifikatoren: Anderer: Diss/13309
 Art des Abschluß: Doktorarbeit

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