Publications by authors named "Tatyana V Kuznetzova"
In the present review, we focus on the phenomenon of chromothripsis, a new type of complex chromosomal rearrangements. We discuss the challenges of chromothripsis detection and its distinction from other chromoanagenesis events. Along with already known causes and mechanisms, we introduce aberrant epigenetic regulation as a possible pathway to chromothripsis.
View Article and Find Full Text PDFThis manuscript reports on genomewide epigenetic alterations in cri-du-chat syndrome related to a partial aneusomy of chromosome 5. A systematic analysis of these alterations will open up new possibilities for the prognostic evaluation of CDCS patients and the development of new therapeutic interventions for reducing the severity of the disease.
View Article and Find Full Text PDFArticle Synopsis
- The study analyzed DNA hydroxymethylation and methylation in human testicular cells and sperm from azoospermic patients and sperm donors, finding that while methylation was consistent throughout spermatogenesis, hydroxymethylation varied and was mostly low in sperm samples.
- High levels of hydroxymethylcytosine were primarily found in a small population of sperm cells, indicating that variations in hydroxymethylation patterns are likely not genetically programmed but may indicate abnormalities.
- Increased levels of hydroxymethylated sperm correlated negatively with markers of good semen quality and positively with sperm DNA fragmentation, suggesting that hydroxymethylation could serve as a new indicator for assessing sperm quality in infertile couples.
Article Synopsis
- The study examines how the patterns of 5-hydroxymethylcytosine (5hmC) change in human preimplantation embryos during the process of DNA methylation reprogramming.
- It reveals that in zygotes, 5hmC is more concentrated in the paternal chromosome set and is specifically localized to certain regions, known as R-bands, while being sparse in the maternal set.
- As embryonic cleavage occurs, there is a loss of 5hmC and its distribution becomes less symmetrical among sister chromatids, indicating dynamic changes in hydroxymethylation patterns throughout early development.
Article Synopsis
- The study compares karyotype abnormalities in first trimester miscarriages among women under and over 35 years, distinguishing between those who conceived naturally (NC) and through in vitro fertilization (IVF).
- A total of 499 miscarriage karyotypes were analyzed, revealing no significant difference in abnormal karyotype incidence between NC and IVF patients in either age group, although younger IVF patients had a lower incidence of abnormalities.
- The findings suggest that IVF does not increase the risk of miscarriage due to abnormal karyotypes, indicating that early pregnancy loss in younger IVF patients is usually due to non-cytogenetic factors rather than chromosomal issues.