- Abstract:
-
Mosaic mutations present in the germline have important implications for reproductive risk and disease transmission. We previously demonstrated a phenomenon occurring in the male germline, whereby specific mutations arising spontaneously in stem cells (spermatogonia) lead to clonal expansion, resulting in elevated mutation levels in sperm over time. This process, termed selfish spermatogonial selection, explains the high spontaneous birth prevalence and strong paternal age-effect of disorders...
Expand abstract - Publication status:
- Published
- Peer review status:
- Peer reviewed
- Version:
- Publisher's version
- Files:
-
-
(zip, 5.5mb)
-
(pdf, 6.4mb)
-
- Publisher copy:
- 10.1101/gr.239186.118
-
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- Publisher:
- Cold Spring Harbor Laboratory Press Publisher's website
- Journal:
- Genome Research Journal website
- Volume:
- 28
- Issue:
- 12
- Pages:
- 1779-1790
- Publication date:
- 2018-10-24
- Acceptance date:
- 2018-10-20
- DOI:
- EISSN:
-
1549-5469
- ISSN:
-
1088-9051
- Pubs id:
-
pubs:930021
- URN:
-
uri:697ea21b-0b94-4632-bc9e-bbb0514e3e46
- UUID:
-
uuid:697ea21b-0b94-4632-bc9e-bbb0514e3e46
- Local pid:
- pubs:930021
- Copyright holder:
- Maher et al.
- Copyright date:
- 2018
- Notes:
- Copyright © 2018 Maher et al.; Published by Cold Spring Harbor Laboratory Press. This article, published in Genome Research, is available under a Creative Commons License (Attribution 4.0 International license), as described at http://creativecommons.org/licenses/by/4.0/.
Journal article
Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes
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