Transgenerational effects of paternal exposures: the role of germline de novo mutations

H Dehghanbanadaki, M Jimbo, K Fendereski… - …, 2024 - Wiley Online Library
Germline de novo mutations (DNMs) refer to spontaneous mutations arising during
gametogenesis, resulting in genetic changes within germ cells that are subsequently …

Frequency and spectrum of mutations in human sperm measured using duplex sequencing correlate with trio-based de novo mutation analyses

J Axelsson, D LeBlanc, H Shojaeisaadi, MJ Meier… - medRxiv, 2024 - medrxiv.org
De novo mutations (DNMs) are drivers of genetic disorders. However, the study of DNMs is
hampered by technological limitations preventing accurate quantification of ultra-rare …

Living birth following preimplantation genetic testing for monogenic disorders to prevent low-level germline mosaicism related Nicolaides–Baraitser syndrome

J Pan, J Li, S Chen, C Xu, H Huang, L Jin - Frontiers in Genetics, 2022 - frontiersin.org
Objective: Paternal sperm mosaicism has few consequences for fathers for mutations being
restricted to sperm. However, it could potentially underlie severe sporadic disease in their …

Non-neutral clonal selection and its potential role in mammalian germline stem cell dysfunction with advancing age

V Stolzenbach, DC Woods, JL Tilly - Frontiers in Cell and …, 2022 - frontiersin.org
The concept of natural selection, or" survival of the fittest", refers to an evolutionary process
in nature whereby traits emerge in individuals of a population through random gene …