Chromosomal aneuploidies are responsible for severe human genetic diseases. Aiming at creating models for such disorders, we have generated human embryonic stem cell (hESC) lines from pre-implantation genetic screened (PGS) embryos. The overall analysis of more than 400 aneuploid PGS embryos showed a similar risk of occurrence of monosomy or trisomy for any specific chromosome. However, the generation of hESCs from these embryos revealed a clear bias against monosomies in autosomes. Moreover, only specific trisomies showed a high chance of survival as hESC lines, enabling us to present another categorization of human aneuploidies. Our data suggest that chromosomal haploinsufficiency leads to lethality at very early stages of human development.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.scr.2012.07.002 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
DNA-damage orchestrates self-renewal and differentiation via reciprocal p53 family and Hippo/Wnt/TGF-β pathway activation in embryonic stem cells.
Cell Mol Life Sci
January 2025
Cam-Su Genomic Resource Center, Medical College of Soochow University, Suzhou, China.
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 PDFOptineurin Cooperates With NRF2 to Regulate Tooth Root Morphogenesis by Controlling Mitochondrial Dynamics and Apoptosis.
Cell Prolif
January 2025
Department of Orthodontics, The Affiliated Stomatological Hospital of Nanjing Medical University, Nanjing, China.
Tooth root development is a complex process essential for tooth function, yet the role of root dentin development in tooth morphogenesis is not fully understood. Optineurin (OPTN), linked to bone disorders like Paget's disease of bone (PDB), may affect tooth root development. In this study, we used single-cell sequencing of embryonic day 16.
View Article and Find Full Text PDFTargeting KAT6A/B as a New Therapeutic Strategy for Cancer Therapy.
J Med Chem
January 2025
Jiangsu Collaborative Innovation Center of Chinese Medicinal Resources Industrialization, School of Medicine, Nanjing University of Chinese Medicine, Nanjing 210023, China.
The lysine acetyltransferase 6A (KAT6A, MOZ, MYST3) is a member of the MYST family of protein acetyltransferases, which are essential for different biological processes such as craniofacial, embryonic, stem cell development, and hematopoiesis. KAT6A is an oncogene in human acute myeloid leukemia (AML), and KAT6A overexpression in AML is associated with metastases and poor prognoses. Furthermore, KAT6A mutations play an important role in cancer formation and progression and result in therapeutic resistance in both hematopoietic malignancies and solid tumors.
View Article and Find Full Text PDFIsogenic fish sperm produced by transplanting gynogenetic haploid-derived germ cells.
Biol Reprod
January 2025
Faculty and Graduate School of Fisheries Sciences, Hokkaido University, Hokkaido, Japan.
Artificially induced haploidy is lethal in vertebrates, although it is useful for genetic screening and genome editing due to its single set of genomes. Haploid embryonic stem (ES) cell lines in mammals contribute to genetic studies and the production of gametes derived from haploid ES cells. In fish breeding, doubled haploids (DHs) induced by artificially induced gynogenesis are used to generate isogenic gametes for cloning purposes.
View Article and Find Full Text PDFCharacterization of Dystrophin Dp71 Expression and Interaction Partners in Embryonic Brain Development: Implications for Duchenne/Becker Muscular Dystrophy.
Mol Neurobiol
January 2025
Department of Pathology and Applied Neurobiology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, 465 Kajii-Cho, Kawaramachi Hirokoji, Kamigyo-Ku, Kyoto, 602-8566, Japan.
Duchenne/Becker muscular dystrophy (DMD/BMD) manifests progressive muscular dystrophy and non-progressive central nervous disorder. The neural disorder is possibly caused by abnormalities in the developmental period; however, basic research to understand the mechanisms remains underdeveloped. The responsible gene, Dmd (dystrophin), generates multiple products derived from several gene promoters.
View Article and Find Full Text PDFWant 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!