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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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Division:
MSD
Department:
Doctoral Training Centre - MSD
Role:
Author

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Supervisor
Role:
Supervisor
Wellcome Trust More from this funder
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
University of Oxford
UUID:
uuid:d43ad0d8-e7f9-4f14-8342-e3f7bf3af307
Deposit date:
2019-05-23

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