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Evaluating selfish spermatogonial selection and its role in human disease

Abstract:

The majority of de novo mutations originate in the paternal germline. Prior evidence has shown that a subset of activating mutations arise spontaneously within the spermatogonial stem cell (SSC) and can expand clonally along the length of a seminiferous tubule. This process, Selfish Spermatogonial Selection (SSS), explains the high birth prevalence, and increase in frequency with paternal age, of several rare congenital disorders (e.g. Apert syndrome, achondroplasia).

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Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
University of Oxford

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