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Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

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...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1101/gr.239186.118

Authors


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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM
Subgroup:
Weatherall Insti. of Molecular Medicine
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Institution:
University of Oxford
Division:
Medical Sciences Division
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM
Subgroup:
RDM Clinical Laboratory Sciences
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM
Subgroup:
RDM Clinical Laboratory Sciences
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Grant:
091182 to A.G., G.McV. and A.O.M.W.
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Grant:
IMM Strategic Alliance (G0902418)
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

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