We review and discuss here the specificity and contribution of genome (re-)arrangement studies for the exploration of genetic diversity among Leishmania. We show how the early molecular karyotyping studies generated an original perception of the genetics and evolution of these Protozoa, while providing some possible explanations on the parasite diverse phenotypes (drug resistance, pathogenicity...). We compare the results with the enormous amount of data provided by the recent genome sequencing projects, so far focused on one strain per genus/species. We highlight the relevance of parallel sequencing of different strains of a same species, now made possible by the new sequencing technologies. We recommend paying a particular attention to variation in gene copy number, a feature showed by the karyotyping studies to be extremely informative.
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http://dx.doi.org/10.1016/j.meegid.2008.11.007 | DOI Listing |
Cureus
December 2024
Maternal Fetal Medicine, Michigan State University College of Human Medicine/Corewell Health, Grand Rapids, USA.
The noninvasive prenatal test (NIPT) for genetic screening has been adopted globally as an alternative to first-trimester and quad screening due to its high sensitivity and specificity. NIPT involves detecting and processing foreign fetal DNA in maternal circulation to screen for fetal aneuploidy. An incidental consequence of this process is the detection of foreign tumor cell DNA in maternal circulation in otherwise asymptomatic patients.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Experimental Biology, Genetics Area, University of Jaén, Campus Las Lagunillas s/n, 23071, Jaén, Spain.
Acanthocephalan parasites are often overlooked in many areas of research, and satellitome and cytogenetic analyzes are no exception. The species of the genus Acanthocephalus are known for their very small chromosomes with ambiguous morphology, which makes karyotyping difficult. In this study, we performed the first satellitome analysis of three Acanthocephalus species to identify species- and chromosome-specific satellites that could serve as cytogenetic markers.
View Article and Find Full Text PDFEur J Obstet Gynecol Reprod Biol
January 2025
Department of Obstetrics and Gynecology, Ministry of Health, Ankara Bilkent City Hospital, Ankara, Turkey; University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey.
Placental mesenchymal dysplasia (PMD) is a rare placental pathology that sonographically mimics gestational trophoblastic diseases. However, mesenchymal dysplasia can be distinguished from other conditions by the presence of villous edema and the absence of trophoblastic proliferation in the placental tissue. This pathology has been demonstrated to be associated with fetal growth restriction, Beckwith-Wiedemann syndrome, some chromosomal abnormalities and intrauterine fetal demise.
View Article and Find Full Text PDFDokl Biochem Biophys
January 2025
Voronezh State University, Voronezh, Russia.
Creation and long-term in vitro maintenance of valuable genotype collection is one of the modern approach to conservation of valuable gene pool of woody plants. However, during prolonged cultivation, genetic variability of cells and tissues may accumulate and lead to the loss of valuable characteristics of parental plants. It is therefore important to assess the genetic (including cytogenetic) stability of collection clones.
View Article and Find Full Text PDFJ Assist Reprod Genet
January 2025
Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.
PGT-A, what's it for? Considering the increase in fetal aneuploidies with a woman's age and the high number of miscarriages associated with fetal karyotype anomalies, the concept of selecting IVF embryos based on their karyotype in order to transfer only euploid embryos and eliminate aneuploid ones was proposed. Preimplantation genetic testing for aneuploidy (PGT-A) was then established, nearly 30 years ago, with the expectation that the transfer of euploid embryos would lead to a significant improvement in medically assisted reproduction (MAR) outcomes. PGT-A, what's wrong? Despite the practice and widespread use, PGT-A has not consistently proven its effectiveness.
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