International comparison exercise for biological dosimetry after exposures with neutrons performed at two irradiation facilities as part of the BALANCE project
In the case of a radiological or nuclear event, biological dosimetry can be an important tool to support clinical decision-making. During a nuclear event, individuals might be exposed to a mixed field of neutrons and photons. The composition of the field and the neutron energy spectrum influence the degree of damage to the chromosomes. During the transatlantic BALANCE project, an exposure similar to a Hiroshima-like device at a distance of 1.5 km from the epicenter was simulated and biological dosimetry based on dicentric chromosomes was performed to evaluate the participants ability to discover unknown doses and to test t...
Source: Cytogenetic and Genome Research - April 18, 2023 Category: Genetics & Stem Cells Source Type: research
Robertsonian fusion site in Rineloricaria pentamaculata (Siluriformes: Loricariidae): involvement of 5S rDNA and satellite sequences
Cytogenetic studies demonstrated that unstable chromosomal sites in armored catfishes (Loricariidae) triggered intensive karyotypic diversification, mainly derived from Robertsonian (Rb) rearrangements. In Loricariinae, the presence of ribosomal DNA (rDNA) clusters and their flanking repeated regions (such as microsatellites or partial transposable element sequences) were proposed to facilitate chromosomal rearrangements. Hence, this study aimed to characterize the numerical chromosomal polymorphism observed in Rineloricaria pentamaculata and to evaluate the chromosomal rearrangements which originated diploid chromosome nu...
Source: Cytogenetic and Genome Research - April 13, 2023 Category: Genetics & Stem Cells Source Type: research
Chromosomal evolution of Suboscines: Karyotype diversity and evolutionary trends in Ovenbirds (Passeriformes, Furnariidae)
Furnariidae (Ovenbirds) is one of the most diversified families in the Passeriformes order and Suboscines suborder. Despite their great diversity of species, cytogenetic research is still in its early stages, restricting our knowledge of their karyotype evolution. We combined traditional and molecular cytogenetic analyses in three representative species, Synallaxis frontalis, Syndactyla rufosuperciliata, and Cranioleuca obsoleta, to examine the chromosomal structure and evolution of Ovenbirds. Our findings reveal that all the species studied had the same diploid number (2n= 82). Differences in chromosomal morphology of som...
Source: Cytogenetic and Genome Research - March 30, 2023 Category: Genetics & Stem Cells Source Type: research
Effect of age and sex on gene expression-based radiation biodosimetry using mouse peripheral blood
In this study, we determined the impact of age on the peripheral blood cell gene expression profile of female mice exposed to radiation and identified differences and similarities with a previously obtained transcriptomic signature of male mice. Young (2 months) and old (24 months) female mice were irradiated with 4 Gy X-rays, total RNA was isolated from blood 24hr later and subjected to whole genome microarray analysis. Dose reconstruction analyses using a gene signature trained on gene expression data from irradiated young male mice showed accurate reconstruction of 0 or 4 Gy doses with root mean square error of ± 0.75 ...
Source: Cytogenetic and Genome Research - March 16, 2023 Category: Genetics & Stem Cells Source Type: research
SHOX whole gene duplications are over-represented in SHOX haploinsufficiency phenotype cohorts
We present nine unpublished individuals with a SHOX whole gene duplication in whom the duplication contains variable amounts of the SHOX regulatory region, and we review 29 similar cases from the literature where phenotypic data were clearly stated. While tall stature was present in a proportion of these cases, we present evidence that SHOX whole gene duplications can also result in a phenotype more typically associated with SHOX haploinsufficiency and are significantly over-represented in Leri-Weill Dyschondrosteosis and idiopathic short stature probands compared to population controls. Although similar-looking duplicatio...
Source: Cytogenetic and Genome Research - March 16, 2023 Category: Genetics & Stem Cells Source Type: research
Prenatal Genetic Diagnosis of Fetal Cystic Hygroma: A Retrospective Single-Center Study from China
In this study, we aimed to compare the diagnostic efficiency of karyotyping and chromosomal microarray analysis (CMA) in a local fetal CH cohort, and tried to propose an optimized testing strategy that may help improve the cost-effectiveness of disease management. We reviewed all pregnancies that underwent invasive prenatal diagnosis between January 2017 and September 2021 at one of the largest prenatal diagnostic centers in Southeast China. We collected cases identified by the presence of fetal CH. Prenatal phenotypes and laboratory records of these patients were audited, collated, and analyzed. The detection rates of kar...
Source: Cytogenetic and Genome Research - March 10, 2023 Category: Genetics & Stem Cells Source Type: research
Accurate Identification of Breakpoints in a Cryptic Reciprocal Translocation by Whole-Genome Sequencing
We describe a couple who experienced a missed abortion, studied by CMA. CMA of the abortion tissue detected a 1.62-Mb duplication at 14q11.2 and a 5.09-Mb deletion at 21q11.2q21.1, while the couple seemed to have a normal karyotype. Combining the results of CMA, whole-genome sequencing (WGS) breakpoint analysis, Sanger sequencing, and FISH, we found that the father was a 46,XY,t(14;21)(q11.2;q21.1) balanced translocation carrier. Our results indicate that WGS is an efficient and accurate approach to map breakpoints of cryptic reciprocal balanced translocations undetectable by standard karyotype.Cytogenet Genome Res (Source...
Source: Cytogenetic and Genome Research - March 9, 2023 Category: Genetics & Stem Cells Source Type: research
A Paternal & quot;Balanced & quot; Chromosome 2 and 4 Translocation with Chromosome 21q Insertion Leading to Duplication of 2q22.1q24.1 in Two Siblings
Complex chromosomal rearrangements (CCRs) have been described as alterations between two or more chromosomes with at least 3 breakpoints. CCRs can cause copy number variations (CNVs) resulting in developmental disorders, multiple congenital anomalies, and recurrent miscarriages. Developmental disorders are an important health problem affecting 1 –3% of children. The underlying etiology can be explained by CNV analysis in 10–20% of children who have unexplained intellectual disability, developmental delay, and congenital anomalies. Here we report two siblings who were referred to us with intellectual disability, neurode...
Source: Cytogenetic and Genome Research - March 2, 2023 Category: Genetics & Stem Cells Source Type: research
Shugoshin Regulates Cohesin, Kinetochore-Microtubule Attachments, and Chromosomal Instability
Correct regulation of cohesin at chromosome arms and centromeres and accurate kinetochore-microtubule connections are significant for proper chromosome segregation. At anaphase of meiosis I, cohesin at chromosome arms is cleaved by separase, leading to the separation of homologous chromosomes. However, at anaphase of meiosis II, cohesin at centromeres is cleaved by separase, leading to the separation of sister chromatids. Shugoshin-2 (SGO2) is a member of the shugoshin/MEI-S332 protein family in mammalian cells, a crucial protein that protects centromeric cohesin from cleavage by separase and corrects wrong kinetochore-mic...
Source: Cytogenetic and Genome Research - March 2, 2023 Category: Genetics & Stem Cells Source Type: research
