Positioning the genome within the nucleus

Verschure, Pernette J.

doi:10.1016/j.biolcel.2004.07.001

Cited by 24 publications

(10 citation statements)

References 109 publications

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“…Gene expression is correlated with nuclear positioning of a gene or gene locus [Verschure, 2004]. In ring chromosome, in addition to the genes in 14q31, transcription of the genes along the whole long arm of the chromosome could be affected due to its repositioning within the nucleus.…”

Section: Discussionmentioning

confidence: 99%

FISH‐mapping of telomeric 14q32 deletions: Search for the cause of seizures

Schlade-Bartusiak

Costa

Summers

et al. 2005

American J of Med Genetics Pt A

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Ring chromosome 14 is a rare cytogenetic disorder. Individuals with r(14) generally have developmental delay and seizures. Other features include hypotonia, microcephaly, mild facial dysmorphism, and retinal pigmentation. Most of these features are also found in patients with linear terminal deletions of chromosome 14, except for seizures and retinal abnormalities. The objective of the study was to determine if deletion of a specific chromosome region is a possible explanation for the occurrence of seizures in patients with ring chromosome 14. Patients diagnosed either with r(14) (six patients) or a deletion of distal 14q (three patients) were analyzed by FISH (fluorescence in situ hybridization) with BAC probes. We observed differences in the size of deletions in the studied group. In two r(14) patients, we did not detect any deletion; the four other patients had deletions of various sizes, ranging from 0.8 Mb to 5 Mb. Two linear deletions were 3.2 Mb and 5.3 Mb in length, respectively; the third case had an interstitial deletion that did not overlap with the others. The deleted regions in ring chromosomes showed overlap with those in the two linear terminal deletions. We conclude that there is unlikely to be a specific deleted locus in 14q32.3 that predisposes r(14) patients to seizures or retinal pigmentation. The cause is probably related to the formation of the ring itself and the effect this may have on local chromatin structure.

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Section: Discussionmentioning

confidence: 99%

FISH‐mapping of telomeric 14q32 deletions: Search for the cause of seizures

Schlade-Bartusiak

Costa

Summers

et al. 2005

American J of Med Genetics Pt A

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“…Light microscopy has also been used to investigate specific juxtapositioning of distant gene loci (Verschure 2004;Gilbert et al 2005;Chambeyron and Bickmore 2004). In one case, it was possible to determine that sequences on different chromosomes involved in a translocation common in human lymphomas were indeed closer in space than expected by chance (Roix et al 2003).…”

Section: Chromatin Organization In the Living Nucleusmentioning

confidence: 98%

Organization of interphase chromatin

Horowitz-Scherer

Woodcock

2005

Chromosoma

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The organization of interphase chromatin spans many topics, ranging in scale from the molecular level to the whole nucleus, and its study requires a concomitant range of experimental approaches. In this review, we examine these approaches, the results they have generated, and the interfaces between them. The greatest challenge appears to be the integration of information on whole nuclei obtained by light microscopy with data on nucleosome-nucleosome interactions and chromatin higher-order structures, obtained in vitro using biophysical characterization, atomic force microscopy, and electron microscopy. We consider strategies that may assist in the integration process, and we review emerging technologies that promise to reduce the "resolution gap."

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“…A number of cancers, including childhood leukemia and follicular non-Hodgkin lymphoma (NHL), are characterized by specific translocations (Smith et al 2005; Tsujimoto et al 1985) promoted by physical proximity of the affected genes within the nucleus [reviewed by Verschure (2004)]. In follicular NHL, the anti-apoptotic B-cell leukemia/ lymphoma 2 ( bcl-2) gene, normally found on chromosome 18, translocates to the immunoglobulin heavy chain locus on chromosome 14 (Roulland et al 2004; Tsujimoto et al 1985).…”

Section: Pesticides Gene Translocation and Non-hodgkin Lymphomamentioning

confidence: 99%

Environmental Exposures and Gene Regulation in Disease Etiology

Edwards

Myers²

2007

Environ Health Perspect

236

141

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ObjectiveHealth or disease is shaped for all individuals by interactions between their genes and environment. Exactly how the environment changes gene expression and how this can lead to disease are being explored in a fruitful new approach to environmental health research, representative studies of which are reviewed here.Data sourcesWe searched Web of Science and references of relevant publications to understand the diversity of gene regulatory mechanisms affected by environmental exposures with disease implications.Data synthesisPharmaceuticals, pesticides, air pollutants, industrial chemicals, heavy metals, hormones, nutrition, and behavior can change gene expression through a broad array of gene regulatory mechanisms. Mechanisms include regulation of gene translocation, histone modifications, DNA methylation, DNA repair, transcription, RNA stability, alternative RNA splicing, protein degradation, gene copy number, and transposon activation. Furthermore, chemically induced changes in gene regulation are associated with serious and complex human diseases, including cancer, diabetes and obesity, infertility, respiratory diseases, allergies, and neurodegenerative disorders such as Parkinson and Alzheimer diseases. One of the best-studied areas of gene regulation is epigenetics, especially DNA methylation. Our examples of environmentally induced changes in DNA methylation are presented in the context of early development, when methylation patterns are initially laid down. This approach highlights the potential role for altered DNA methylation in fetal origins of adult disease and inheritance of acquired genetic change.ConclusionsThe reviewed studies indicate that genetic predisposition for disease is best predicted in the context of environmental exposures. Second, the genetic mechanisms investigated in these studies offer new avenues for risk assessment research. Finally, we are likely to witness dramatic improvements in human health, and reductions in medical costs, if environmental pollution is decreased.

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Positioning the genome within the nucleus

Cited by 24 publications

References 109 publications

FISH‐mapping of telomeric 14q32 deletions: Search for the cause of seizures

FISH‐mapping of telomeric 14q32 deletions: Search for the cause of seizures

Organization of interphase chromatin

Environmental Exposures and Gene Regulation in Disease Etiology

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