Understanding dog breed copy number differences in the framework of gray wolf copy number variation
- Autores: Aitor Serres Armero
- Directores de la Tesis: Tomàs Marques-Bonet (dir. tes.), David Alejandro de Juan Sopeña (codir. tes.)
- Lectura: En la Universitat Pompeu Fabra ( España ) en 2020
- Idioma: español
- Tribunal Calificador de la Tesis: Elinor K. Karlsson (presid.), Elena Bosch Fusté (secret.), Olga Francino Martí (voc.)
- Programa de doctorado: Programa de Doctorado en Biomedicina por la Universidad Pompeu Fabra
- Materias:
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- Resumen
The study of structural variation complements and synergizes with the study of sequence variation to unravel the intricacies of phenotypic variation. Dogs are the most phenotypically variable domesticated species existing today despite their remarkably low nucleotide diversity. As such, the systematized study of copy number variation in an extensive panel of over 100 dog breeds has the potential to unravel a fraction of the bases of phenotypic diversity which remain unexplored. This study finds an excess of structural variants in dogs compared to the expectation given their genetic history, which can potentially account for some of their morphometric, anatomical and pathological variance. Indeed, trait mapping finds over 90 copy number variants associated with more than 10 phenotypes, some of which were previously unknown or uncharacterized. Moreover, there is a correlation between low effect, associated copy number variants and other relevant genomic features such as the expression patterns of long non-coding RNA or the presence of long-range chromatin contacts. Our characterization of copy number variation in dogs has generated a wealth of hypotheses for further functional testing and validation.
