4.8 Editorial Material

Post-zygotic brain mosaicism as a result of partial reversion of pre-zygotic aneuploidy

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

Clonal hematopoiesis is associated with protection from Alzheimer's disease

Hind Bouzid et al.

Summary: This study found that individuals with clonal hematopoiesis of indeterminate potential (CHIP) have a lower risk of Alzheimer's disease (AD). By analyzing blood DNA sequencing data from thousands of individuals with and without AD, the researchers discovered that those with CHIP were less likely to develop AD, and Mendelian randomization analyses supported a potential causal association. The study also found that the same mutations in blood were present in the microglia cells of the brain in CHIP carriers. These findings suggest that CHIP may play a role in attenuating the risk of AD.

NATURE MEDICINE (2023)

Article Genetics & Heredity

Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy

Katherine E. Miller et al.

Summary: Somatic mosaicism is a known cause of neurological disorders, and this study reveals a novel mechanism for brain mosaicism through post-zygotic rescue of meiotic errors. The researchers found evidence of extra chromosome 1q allele in the brain tissue of patients with focal epilepsy, which was not observed in blood or buccal cells. This copy number gain was highly enriched in astrocytes and showed distinct gene expression signatures and hyaline inclusions.

NATURE GENETICS (2023)

Article Biochemistry & Molecular Biology

Human embryo live imaging reveals nuclear DNA shedding during blastocyst expansion and biopsy

Ana Domingo-Muelas et al.

Summary: Combining fluorescent dyes with live imaging, this study reveals the dynamics of early development in human embryos, including chromosome segregation, compaction, polarization, blastocyst formation, and hatching. The study also shows that blastocyst expansion mechanically affects trophectoderm cells, causing nuclear budding and DNA shedding into the cytoplasm. Moreover, the study suggests that aneuploidies in human embryos may not only result from chromosome segregation errors during mitosis, but also from nuclear DNA shedding.
Article Multidisciplinary Sciences

Inherent mosaicism and extensive mutation of human placentas

Tim H. H. Coorens et al.

Summary: Placentas can exhibit chromosomal abnormalities different from the fetus, possibly due to genetic segregation. Research shows that placental cells display genetic isolation and extensive mutagenesis, suggesting that mosaicism is a typical feature of placental development.

NATURE (2021)

Review Dermatology

Recombination-induced revertant mosaicism in ichthyosis with confetti and loricrin keratoderma

Toshifumi Nomura

JOURNAL OF DERMATOLOGICAL SCIENCE (2020)

Article Medicine, Research & Experimental

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

Federica Buonocore et al.

JOURNAL OF CLINICAL INVESTIGATION (2017)