Re: International System for Human Cytogenetic or Cytogenomic Nomenclature (ISCN): Some Thoughts, by T. Liehr

McGowan‐Jordan, Jean; Hastings, Ros; Moore, Sarah

doi:10.1159/000516655

Cited by 202 publications

(209 citation statements)

References 2 publications

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“…After 31 PDs, chromosomes 3 and 4 exhibited deletions, and a derivative chromosome 7 was found (der(7)t(7;?)(p13;? )), together with an additional chromosome 11 (+11,del(11)(p12)) and two extra marker chromosomes [ 23 ]. Furthermore, several chromosomes had lost 1 or 2 of their homologous pairs in some of the analyzed metaphases: loss of chromosome 10 (chr10) (29.16%), loss of chr14 (91.6%), loss of two chr14 (8.3%), loss of chr17 (95.8%), loss of two chr17 (4.16%), loss of chr21 (12.5%), loss of chr22 (83.3%), and loss of two chr22 (8.3%) ( Figure 2 B,D).…”

Section: Resultsmentioning

confidence: 99%

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Methylation of Subtelomeric Chromatin Modifies the Expression of the lncRNA TERRA, Disturbing Telomere Homeostasis

Oliva-Rico

Fabián-Morales

Cáceres-Gutiérrez

et al. 2022

IJMS

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The long noncoding RNA (lncRNA) telomeric repeat-containing RNA (TERRA) has been associated with telomeric homeostasis, telomerase recruitment, and the process of chromosome healing; nevertheless, the impact of this association has not been investigated during the carcinogenic process. Determining whether changes in TERRA expression are a cause or a consequence of cell transformation is a complex task because studies are usually carried out using either cancerous cells or tumor samples. To determine the role of this lncRNA in cellular aging and chromosome healing, we evaluated telomeric integrity and TERRA expression during the establishment of a clone of untransformed myeloid cells. We found that reduced expression of TERRA disturbed the telomeric homeostasis of certain loci, but the expression of the lncRNA was affected only when the methylation of subtelomeric bivalent chromatin domains was compromised. We conclude that the disruption in TERRA homeostasis is a consequence of cellular transformation and that changes in its expression profile can lead to telomeric and genomic instability.

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Section: Resultsmentioning

confidence: 99%

“…We report the karyotype of the K562 cell line we worked with after 8 and 31 population-doubling events (PDs) as follows [ 23 ]:…”

Section: Resultsmentioning

confidence: 99%

Methylation of Subtelomeric Chromatin Modifies the Expression of the lncRNA TERRA, Disturbing Telomere Homeostasis

Oliva-Rico

Fabián-Morales

Cáceres-Gutiérrez

et al. 2022

IJMS

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“…CVs [variation in length of heterochromatic segments on the long arms of chromosomes 1 (1qh+), 9 (9qh+) and 16 (16qh+)], fragilities (fra), inversion of chromosome 9 [inv(9)], chromosomal breaks (chrb) and chromatid breaks (chrb), and CAs including structural (SCAs) and numerical chromosomal alterations (NCAs) were evaluated. All CVs and CAs were described according to the International System for Human Cytogenomic Nomenclature (ISCN) 2020 ( McGowan-Jordan et al, 2020 ).…”

Section: Methodsmentioning

confidence: 99%

Profile of Chromosomal Alterations, Chromosomal Instability and Clonal Heterogeneity in Colombian Farmers Exposed to Pesticides

et al. 2022

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Pesticides are a group of environmental pollutants widely used in agriculture to protect crops, and their indiscriminate use has led to a growing public awareness about the health hazards associated with exposure to these substances. In fact, exposure to pesticides has been associated with an increased risk of developing diseases, including cancer. In a study previously published by us, we observed the induction of specific chromosomal alterations and, in general, the deleterious effect of pesticides on the chromosomes of five individuals exposed to pesticides. Considering the importance of our previous findings and their implications in the identification of cytogenetic biomarkers for the monitoring of exposed populations, we decided to conduct a new study with a greater number of individuals exposed to pesticides. Considering the above, the aim of this study was to evaluate the type and frequency of chromosomal alterations, chromosomal variants, the level of chromosomal instability and the clonal heterogeneity in a group of thirty-four farmers occupationally exposed to pesticides in the town of Simijacá, Colombia, and in a control group of thirty-four unexposed individuals, by using Banding Cytogenetics and Molecular Cytogenetics (Fluorescence in situ hybridization). Our results showed that farmers exposed to pesticides had significantly increased frequencies of chromosomal alterations, chromosomal variants, chromosomal instability and clonal heterogeneity when compared with controls. Our results confirm the results previously reported by us, and indicate that occupational exposure to pesticides induces not only chromosomal instability but also clonal heterogeneity in the somatic cells of people exposed to pesticides. This study constitutes, to our knowledge, the first study that reports clonal heterogeneity associated with occupational exposure to pesticides. Chromosomal instability and clonal heterogeneity, in addition to reflecting the instability of the system, could predispose cells to acquire additional instability and, therefore, to an increased risk of developing diseases.

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“…Obtained molecular genetic data was bioinformatically analysed using DECIPHER ( http://decipher.sanger.ac.uk ), UCSC ( http://genome.ucsc.edu ), DGV ( http://dgv.tcag.ca/dgv/app/home ), ClinGen ( http://dosage.clinicalgenome.org/ ), gene imprint database ( http://www.geneimprint.com ) and other Online-Mendelian Inheritance in Man (OMIM) databases ( http://www.omim.org ). Karyotype and CMA-results are described according to the International System for Human Cytogenomic Nomenclature (ISCN, 2020) [ 10 ].…”

Section: Case Reportmentioning

confidence: 99%

Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin

Dong

Zeng

et al. 2022

Mol Cytogenet

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Background Rare chromosomal structural abnormalities, including ring chromosomes, often pose challenges to clinical genetic counselling. Results Here, we report a newborn with congenital heart disease and developmental delay who inherited ring chromosome 6 [46,XY,r(6)(p25q27)mat] from a phenotypically normal mother. Genotypes and phenotypes were analysed by molecular cytogenetic analysis, whole-exome sequencing and literature review. Conclusions Our study showed that the pathogenicity of the ring chromosome abnormality [r(6)(p25q27)] was mainly affected by chromosome imbalance, deletions of genes with haploinsufficiency, duplications of genes with triple sensitivity, parental inheritance of the imbalance and the imprinting status of the affected genes.

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Re: International System for Human Cytogenetic or Cytogenomic Nomenclature (ISCN): Some Thoughts, by T. Liehr

Cited by 202 publications

References 2 publications

Methylation of Subtelomeric Chromatin Modifies the Expression of the lncRNA TERRA, Disturbing Telomere Homeostasis

Methylation of Subtelomeric Chromatin Modifies the Expression of the lncRNA TERRA, Disturbing Telomere Homeostasis

Profile of Chromosomal Alterations, Chromosomal Instability and Clonal Heterogeneity in Colombian Farmers Exposed to Pesticides

Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin

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