ArticleMolecular cytogenetics2012
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype.
Article in Molecular cytogenetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Epigenetic state and gene expression remain stable after CRISPR/Cas-mediated chromosomal inversions.The New phytologist · 2025Article
- Epigenetic Modeling of Jumping Translocations of 1q Heterochromatin in Acute Myeloid Leukemia After 5'-Azacytidine Treatment.Genes, chromosomes & cancer · 2024Article
- Abnormal Chromatin Folding in the Molecular Pathogenesis of Epilepsy and Autism Spectrum Disorder: a Meta-synthesis with Systematic Searching.Molecular neurobiology · 2023Review
- Article
- Integrated bioinformatics analysis of potential biomarkers for pancreatic cancer.Journal of clinical laboratory analysis · 2022Article
- Review
- Mutagenic Effect of Proton Beams Characterized by Phenotypic Analysis and Whole Genome Sequencing in Arabidopsis.Frontiers in plant science · 2021Article
- RBV: Read balance validator, a tool for prioritising copy number variations in germline conditions.Scientific reports · 2019Article
- NETO2 promotes invasion and metastasis of gastric cancer cells via activation of PI3K/Akt/NF-κB/Snail axis and predicts outcome of the patients.Cell death & disease · 2019Article
- Article
- Upregulation of NETO2 gene in colorectal cancer.BMC genetics · 2017Article
- Position effect modifying gene expression in a patient with ring chromosome 14.Journal of applied genetics · 2016Article
- TSC2 epigenetic defect in primary LAM cells. Evidence of an anchorage-independent survival.Journal of cellular and molecular medicine · 2014Article
- Neto2 is a KCC2 interacting protein required for neuronal Cl- regulation in hippocampal neurons.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- A computational model for histone mark propagation reproduces the distribution of heterochromatin in different human cell types.PloS one · 2013Article
- Article
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Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe term "position effect" is used when the expression of a gene is deleteriously affected by an alteration in its chromosomal environment even though the integrity of the protein coding sequences is maintained. We describe a patient affected by epilepsy and severe neurodevelopment delay carrying a balanced translocation t(15;16)(p11.2;q12.1)dn that we assume caused a position effect as a result of the accidental juxtaposition of heterochromatin in the euchromatic region.
resultsFISH mapped the translocation breakpoints (bkps) to 15p11.2 within satellite III and the 16q12.1 euchromatic band within the ITFG1 gene. The expression of the genes located on both sides of the translocation were tested by means of real-time PCR and three, all located on der(16), were found to be variously perturbed: the euchromatic gene NETO2/BTCL2 was silenced, whereas VPS35 and SHCBP1, located within the major heterochromatic block of chromosome 16q11.2, were over-expressed. Pyrosequencing and chromatin immunoprecipitation of NETO2/BTCL2 and VPS35 confirmed the expression findings. Interphase FISH analysis showed that der(16) localised to regions occupied by the beta satellite heterochromatic blocks more frequently than der(15).
conclusionsTo the best of our knowledge, this is the first report of a heterochromatic position effect in humans caused by the juxtaposition of euchromatin/heterochromatin as a result of chromosomal rearrangement. The overall results are fully in keeping with the observations in Drosophila and suggest the occurrence of a human heterochromatin position effect associated with the nuclear repositioning of the der(16) and its causative role in the patient's syndromic phenotype.
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