Human embryonic genetic mosaicism and its effects on development and disease

SM Waldvogel, JE Posey, MA Goodell - Nature Reviews Genetics, 2024 - nature.com
Nearly every mammalian cell division is accompanied by a mutational event that becomes
fixed in a daughter cell. When carried forward to additional cell progeny, a clone of variant …

[HTML][HTML] The impact of paternal age on new mutations and disease in the next generation

KA Wood, A Goriely - Fertility and Sterility, 2022 - Elsevier
Advanced paternal age is associated with an increased risk of fathering children with
genetic disorders and other adverse reproductive consequences. However, the mechanisms …

Evolution of the germline mutation rate across vertebrates

LA Bergeron, S Besenbacher, J Zheng, P Li… - Nature, 2023 - nature.com
The germline mutation rate determines the pace of genome evolution and is an evolving
parameter itself. However, little is known about what determines its evolution, as most …

Differences between germline genomes of monozygotic twins

H Jonsson, E Magnusdottir, HP Eggertsson… - Nature …, 2021 - nature.com
Despite the important role that monozygotic twins have played in genetics research, little is
known about their genomic differences. Here we show that monozygotic twins differ on …

Overlooked roles of DNA damage and maternal age in generating human germline mutations

Z Gao, P Moorjani, TA Sasani, BS Pedersen… - Proceedings of the …, 2019 - pnas.org
The textbook view that most germline mutations in mammals arise from replication errors is
indirectly supported by the fact that there are both more mutations and more cell divisions in …

Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation

TA Sasani, BS Pedersen, Z Gao, L Baird, M Przeworski… - Elife, 2019 - elifesciences.org
The number of de novo mutations (DNMs) found in an offspring's genome increases with
both paternal and maternal age. But does the rate of mutation accumulation in human …

Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa

C Has, L Liu, MC Bolling… - The British journal …, 2019 - pmc.ncbi.nlm.nih.gov
Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - PMC Skip to main
content Here's how you know Official websites use .gov A .gov website belongs to an official …

Direct estimation of mutations in great apes reconciles phylogenetic dating

S Besenbacher, C Hvilsom, T Marques-Bonet… - Nature ecology & …, 2019 - nature.com
The human mutation rate per generation estimated from trio sequencing has revealed an
almost linear relationship with the age of the father and the age of the mother, with fathers …

[HTML][HTML] Consequences of paternal nutrition on offspring health and disease

P Dimofski, D Meyre, N Dreumont, B Leininger-Muller - Nutrients, 2021 - mdpi.com
It is well established that the maternal diet during the periconceptional period affects the
progeny's health. A growing body of evidence suggests that the paternal diet also influences …

De novo mutations, genetic mosaicism and human disease

M Mohiuddin, RF Kooy, CE Pearson - Frontiers in genetics, 2022 - frontiersin.org
Mosaicism—the existence of genetically distinct populations of cells in a particular organism—
is an important cause of genetic disease. Mosaicism can appear as de novo DNA mutations …