Female Reproductive Ageing and Chromosomal Abnormalities in a Large Series of Women Undergoing IVF
This study aimed to investigate the presence and type of chromosomal aberrations in peripheral blood of women undergoing in vitro fertilization (IVF) and their possible association with advanced maternal age (AMA). A total of 1,837 women undergoing IVF between 2016 and 2019 were enrolled in the study. Women were further divided in AMA ( ≥35 years) and younger women (#x3c;35 years). Chromosomal abnormalities were detected by peripheral blood karyotyping using standard cytogenetic techniques. Chromosomal abnormalities were detected in 13.5% of the enrolled women; 1.1% had autosomal abnormalities including reciprocal transl...
Source: Cytogenetic and Genome Research - January 20, 2022 Category: Genetics & Stem Cells Source Type: research
MDS/MPN-Unclassifiable with t(X;17)(q28;q21) and < b > < i > KANSL1-MTCP1/CMC4 < /i > < /b > Fusion Gene
Myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-U) is a poorly characterized entity among overlap myeloid syndromes. Recent studies have shown heterogeneous mutational profiles in this group being able to subclassify them into entities closely related to the more well-established disorders under the umbrella term of the MDS/MPN group. Recurrent cytogenetic alterations are, nonetheless, rare in MDS/MPN-U. Here, for the first time, we report a case of MDS/MPN-U with a t(X;17)(q28;q21) chromosomal rearrangement leading to theKANSL1-MTCP1 fusion gene.Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - January 17, 2022 Category: Genetics & Stem Cells Source Type: research
Deciphering the Mechanism of Glyphosate Resistance in < b > < i > Amaranthus palmeri < /i > < /b > by Cytogenomics
In agriculture, various chemicals are used to control the weeds. Out of which, glyphosate is an important herbicide invariably used in the cultivation of glyphosate-resistant crops to control weeds. Overuse of glyphosate results in the evolution of glyphosate-resistant weeds. Evolution of glyphosate resistance (GR) inAmaranthus palmeri (AP) is a serious concern in the USA. Investigation of the mechanism of GR in AP identified different resistance mechanisms of which5-enolpyruvylshikimate-3-phosphate synthase (EPSPS) gene amplification is predominant. Molecular analysis of GR AP identified the presence of a 5- to #x3e;160-f...
Source: Cytogenetic and Genome Research - January 12, 2022 Category: Genetics & Stem Cells Source Type: research
Cleft Lip Palate in a Patient with 5q14.3 Deletion Syndrome: A Possible Unreported Feature?
5q14.3 deletion syndrome (MIM#613443) is an uncommon but well-known syndrome characterized by intellectual disability, epilepsy, hypotonia, brain malformations, and facial dysmorphism. Most patients with this syndrome have lost one copy of theMEF2C gene (MIM*600662), whose haploinsufficiency is considered to be responsible for the distinctive phenotype. To date, nearly 40 cases have been reported; the deletion size and clinical spectrum are variable, and at least 6 cases withoutMEF2C involvement have been documented. We herein report the clinical and cytogenomic findings of an 11-year-old girl who has a 5q14.3q21.1 de novo...
Source: Cytogenetic and Genome Research - January 12, 2022 Category: Genetics & Stem Cells Source Type: research
Novel Centromeric and Subtelomeric Repetitive DNA Sequences for Karyotyping the Bambara Groundnut ( < b > < i > Vigna subterranea < /i > < /b > L. Verdc.)
This study aimed to cytogenetically characterize the genome and chromosome properties of Bambara groundnut. We cloned, sequenced, and mapped a 50-bp centromere-specific tandem repeat on all chromoso mes. In addition, a 400-bp subtelomeric repeat was discovered and mapped on a single pair of chromosomes. A Bambara groundnut karyotype was constructed using these novel repeats along with ribosomal RNA genes (45S and 5S) and telomeric DNA sequences. This study provides the first analysis of the gen ome and chromosome properties of Bambara groundnut. We discuss our findings in relation to genetic improvement of Bambara groundnu...
Source: Cytogenetic and Genome Research - January 12, 2022 Category: Genetics & Stem Cells Source Type: research
Chromosome Evolution in the Genus < b > < i > Partamona < /i > < /b > (Apidae: Meliponini), with Comments on B Chromosome Origin
The genusPartamona includes 33 species of stingless bees, of which 11 were studied cytogenetically. The main goal of this study was to propose a hypothesis about chromosomal evolution inPartamona by combining molecular and cytogenetic data. Cytogenetic analyses were performed on 3Partamona species. In addition, the molecular phylogeny included mitochondrial sequences of 11 species. Although the diploid number was constant within the genus, 2n = 34, B chromosomes were reported in 7 species. Cytogenetic data showed karyotypic variations related to chromosome morphology and the amount and distribution of heterochromatin and r...
Source: Cytogenetic and Genome Research - December 17, 2021 Category: Genetics & Stem Cells Source Type: research
Silencing of miR-1246 Induces Cell Cycle Arrest and Apoptosis in Cisplatin-Resistant Ovarian Cancer Cells by Promoting < b > < i > ZNF23 < /i > < /b > Transcription
In conclusion, miR-1246 might be a novel regulator of DDP-resistant OC that functions by regulatingZNF23 expression in DDP-resistant cells, as well as cell proliferation, cell cycle progression, and apoptosis.Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - December 17, 2021 Category: Genetics & Stem Cells Source Type: research
An Anomaly with Potential as a New Prognostic Marker in CLL with del(13q): Gain of 16p13.3
Deletion 13q [del(13q)] is a favorable prognostic marker if it is detected as a sole abnormality in chronic lymphocytic leukemia (CLL). However the clinical courses of cases with isolated del(13q) are quite heterogeneous. In our study, we investigated copy number variations (CNVs), loss of heterozygosity (LOH), and the size of del(13q) in 30 CLL patients with isolated del(13q). We used CGH+SNP microarrays in order to understand the cause of this clinical heterogeneity. We detected del(13q) in 28/30 CLL cases. The size of the deletion varied from 0.34 to 28.81 Mb, and there was no clinical effect of the deletion size. We fo...
Source: Cytogenetic and Genome Research - December 15, 2021 Category: Genetics & Stem Cells Source Type: research
Methylation Status of the miR-141-3p Promoter Regulates miR-141-3p Expression, Inflammasome Formation, and the Invasiveness of HTR-8/SVneo Cells
This study investigated the effect of methylation of the miR-141-3p promoter on cell viability, invasion capability, and inflammasomes in vitro. The expression of miR-141-3p and methylation status of the miR-141-3p promoter were examined by RT-qPCR and pyrosequencing in villus tissues of women with spontaneous delivery (VTsd), villus tissues of women with preeclampsia (VTpe), and also in HTR-8/SVneo cells treated with a miR-141-3p inhibitor and 20 μmol/L 5-aza-2′-deoxycytidine (5-Aza), a DNA methyltransferase inhibitor. Cell viability and invasion were evaluated by CCK-8 and transwell assays. In addition, the levels of ...
Source: Cytogenetic and Genome Research - December 8, 2021 Category: Genetics & Stem Cells Source Type: research
Novel < b > < i > SNX13 < /i > < /b > Frameshift Variant in an Individual with Developmental Delay
In this study, we present the case of a 4-year-old boy with brain dysplasia and GDD, including language delay, cognitive delay, and dyskinesia. Exome sequencing revealed a 1-bp homozygous deletion inSNX13 (NM_015132.5: exon8: c.742_743del; p.Tyr248Leufs*20), which caused a frameshift and predicted early termination. Sanger sequencing confirmed that the variant was inherited from his parents respectively. Our findings associateSNX13 variation with GDD for the first time and provide a new GDD candidate gene.Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - December 8, 2021 Category: Genetics & Stem Cells Source Type: research
Erratum
Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - November 23, 2021 Category: Genetics & Stem Cells Source Type: research
One Hundred Years of Gene Balance: How Stoichiometric Issues Affect Gene Expression, Genome Evolution, and Quantitative Traits
A century ago experiments with the flowering plantDatura stramonium and the fruit flyDrosophila melanogaster revealed that adding an extra chromosome to a karyotype was much more detrimental than adding a whole set of chromosomes. This phenomenon was referred to as gene balance and has been recapitulated across eukaryotic species. Here, we retrace some developments in this field. Molecular studies suggest that the basis of balance involves stoichiometric relationships of multi-component interactions. This concept has implication for the mechanisms controlling gene expression, genome evolution, sex chromosome evolution/dosa...
Source: Cytogenetic and Genome Research - November 23, 2021 Category: Genetics & Stem Cells Source Type: research
Molecular Cytogenetic Classification of Down Syndrome and Screening of Somatic Aneuploidy in Mothers
In conclusion, free trisomy 21 is the most common type of chromosomal abnormality in DS. A small number of DS cases have translocations and mosaicism of chromosome 21. Additionally, somatic aneuploidy in the peripheral blood from the mother is not an effective marker to predict DS childbirths.Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - November 9, 2021 Category: Genetics & Stem Cells Source Type: research
Retraction Statement
Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - October 26, 2021 Category: Genetics & Stem Cells Source Type: research
Application of Restriction Site-Associated DNA Sequencing (RAD-Seq) for Copy Number Variation and Triploidy Detection in Human
In this study, genomic DNA of 11 samples was extracted employing a routine method and used to build libraries. Five cell lines of known karyotypes and 6 triploid abortion tissue samples were included for RAD-Seq testing. The triploid samples were confirmed by STR analysis and also tested by low-pass WGS. The accuracy and efficiency of detecting CNVs and triploids by RAD-Seq were then assessed, compared with low-pass WGS. In our results, RAD-Seq detected 11 out of 11 (100%) chromosomal abnormalities, including 4 deletions and 1 aneuploidy in the purchased cell lines and all triploid samples. By contrast, these triploids wer...
Source: Cytogenetic and Genome Research - October 15, 2021 Category: Genetics & Stem Cells Source Type: research
