Journal article
Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes
- Abstract:
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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...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Version of record, pdf, 6.4MB)
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(Version of record, zip, 5.5MB)
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- Publisher copy:
- 10.1101/gr.239186.118
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Authors
Funding
Bibliographic Details
- 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:
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1549-5469
- ISSN:
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1088-9051
Item Description
- Keywords:
- Pubs id:
-
pubs:930021
- UUID:
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uuid:697ea21b-0b94-4632-bc9e-bbb0514e3e46
- Local pid:
- pubs:930021
- Deposit date:
- 2018-10-22
Terms of use
- 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/.
- Licence:
- CC Attribution (CC BY)
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