SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.

doi:10.1016/j.ajhg.2024.07.006

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.

American journal of human genetics - 5 Sept 2024

Wood Katherine A, Tong R Spencer, Motta Marialetizia, Cordeddu Viviana, Scimone Eleanor R, Bush Stephen J, Maxwell Dale W, Giannoulatou Eleni, Caputo Viviana, Traversa Alice, Mancini Cecilia, Ferrero Giovanni B, Benedicenti Francesco, Grammatico Paola, Melis Daniela, Steindl Katharina, Brunetti-Pierri Nicola, Trevisson Eva, Wilkie Andrew Om, Lin Angela E, Cormier-Daire Valerie, Twigg Stephen Rf, Tartaglia Marco, Goriely Anne

Abstract excerpt

While it is widely thought that de novo mutations (DNMs) occur randomly, we previously showed that some DNMs are enriched because they are positively selected in the testes of aging men. These "selfish" mutations cause disorders with a shared presentation of features, including exclusive paternal origin, significant increase of the father's age, and high apparent germline mutation rate. To date, all known selfish...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Contracture

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cryptorchidism

Share to Facies

Share to Growth Disorders

Share to Hand Deformities, Congenital

Share to Paternal Age

Share to Smad4 Protein

Share to Testis

Source

Open in PubMed Open full text

Identifiers

PMID: 39116879
DOI: 10.1016/j.ajhg.2024.07.006
PMCID: PMC11444041

Genes

SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.PMID 39116879Read ↗

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testesSemantic proximity Read ↗

Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease.Semantic proximity Read ↗

The impact of paternal age on new mutations and disease in the next generation.Semantic proximity Read ↗

Exploring the Micro-Mosaic Landscape of FGFR3 Mutations in the Ageing Male Germline and Its Implications in Meiotic DifferentiationSemantic proximity Read ↗

Sperm sequencing reveals extensive positive selection in the male germlineSemantic proximity Read ↗

"Selfish spermatogonial selection": a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders.Semantic proximity Read ↗

Discovery of an unusually high number of de novo mutations in sperm of older men using duplex sequencing.Semantic proximity Read ↗

Exploring the Micro-Mosaic Landscape of FGFR3 Mutations in the Ageing Male Germline and Their Potential Implications in Meiotic Differentiation.Semantic proximity Read ↗

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.Semantic proximity Read ↗

Discovery of an unusual high number of <i>de novo</i> mutations in sperm of older men using duplex sequencingSemantic proximity Read ↗

Cellular evidence for selfish spermatogonial selection in aged human testes.Semantic proximity Read ↗

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.