Germ-cell mutations in mice: standards for protecting the human genome.

Mutat Res

Institut für Säugetiergenetik, Gesellschaft für Strahlen- und Umweltforschung (GSF), Neuherberg, F.R.G.

Published: May 1989

Download full-text PDF

Source
http://dx.doi.org/10.1016/0027-5107(89)90021-3DOI Listing

Publication Analysis

Top Keywords

germ-cell mutations
4
mutations mice
4
mice standards
4
standards protecting
4
protecting human
4
human genome
4
germ-cell
1
mice
1
standards
1
protecting
1

Similar Publications

The mechanism by which DNA-damage affects self-renewal and pluripotency remains unclear. DNA damage and repair mechanisms have been largely elucidated in mutated cancer cells or simple eukaryotes, making valid interpretations on early development difficult. Here we show the impact of ionizing irradiation on the maintenance and early differentiation of mouse embryonic stem cells (ESCs).

View Article and Find Full Text PDF

SUMO-mediated regulation of H3K4me3 reader SET-26 controls germline development in C. elegans.

PLoS Biol

January 2025

Department of Cell and Developmental Biology, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.

Sumoylation is a posttranslational modification essential for multiple cellular functions in eukaryotes. ULP-2 is a conserved SUMO protease required for embryonic development in Caenorhabditis elegans. Here, we revealed that ULP-2 controls germline development by regulating the PHD-SET domain protein, SET-26.

View Article and Find Full Text PDF

Depletion of TP53 in Human Pluripotent Stem Cells Triggers Malignant-Like Behavior.

Adv Biol (Weinh)

January 2025

Anatomy and Physiology, Department Clinical Sciences, Faculty of Veterinary Medicine, Utrecht University, Utrecht, 3584 CL, The Netherlands.

Human pluripotent stem cells (hPSCs) tend to acquire genetic aberrations upon culture in vitro. Common aberrations are mutations in the tumor suppressor TP53, suspected to confer a growth-advantage to the mutant cells. However, their full impact in the development of malignant features and safety of hPSCs for downstream applications is yet to be elucidated.

View Article and Find Full Text PDF

Objectives: At present, most genetic tests or carrier screening are performed with blood samples, and the known carrier rate of disease-causing variants is also derived from blood. For semen donors, what is really passed on to offspring is the pathogenic variant in their sperm. This study aimed to determine whether pathogenic variants identified in the sperm of young semen donors are also present in their blood, and whether matching results for blood are consistent with results for sperm.

View Article and Find Full Text PDF

Title: Identification of a novel GRHPR mutation in primary hyperoxaluria type 2 and establishment of patient-derived iPSC line.

Hum Cell

January 2025

Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou, 310052, China.

This research delves into Primary Hyperoxaluria Type 2 (PH2), an autosomal recessive disorder precipitated by a unique case of compound heterozygous deleterious mutations in the GRHPR gene, specifically the intron2/3 c.214-2 T > G and the exon8 c.864-865delTG, leading to a premature stop codon at p.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!