scholarly journals SORBS2transcription is activated by telomere position effect–over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy

2015 ◽  
Vol 25 (12) ◽  
pp. 1781-1790 ◽  
Author(s):  
Jérôme D. Robin ◽  
Andrew T. Ludlow ◽  
Kimberly Batten ◽  
Marie-Cécile Gaillard ◽  
Guido Stadler ◽  
...  
Keyword(s):  
Position Effect ◽  
Muscle Cells ◽  
Long Distance ◽  
Telomere Shortening ◽  
Facioscapulohumeral Dystrophy ◽  
Telomere Position Effect

scholarly journals Telomere position effect: regulation of gene expression with progressive telomere shortening over long distances

2014 ◽  
Vol 28 (22) ◽  
pp. 2464-2476 ◽  
Author(s):  
Jérôme D. Robin ◽  
Andrew T. Ludlow ◽  
Kimberly Batten ◽  
Frédérique Magdinier ◽  
Guido Stadler ◽  
...  
Keyword(s):  
Gene Expression ◽  
Position Effect ◽  
Regulation Of Gene Expression ◽  
Telomere Shortening ◽  
Telomere Position Effect

scholarly journals Telomere shortening and telomere position effect in mild ring 17 syndrome

2014 ◽  
Vol 7 (1) ◽  
Author(s):  
Cecilia Surace ◽  
Francesco Berardinelli ◽  
Andrea Masotti ◽  
Maria Cristina Roberti ◽  
Letizia Da Sacco ◽  
...  
Keyword(s):  
Position Effect ◽  
Telomere Shortening ◽  
Telomere Position Effect

scholarly journals Regulation of the Human Telomerase Gene TERT by Telomere Position Effect—Over Long Distances (TPE-OLD): Implications for Aging and Cancer

PLoS Biology ◽  
2016 ◽  
Vol 14 (12) ◽  
pp. e2000016 ◽  
Author(s):  
Wanil Kim ◽  
Andrew T. Ludlow ◽  
Jaewon Min ◽  
Jerome D. Robin ◽  
Guido Stadler ◽  
...  
Keyword(s):  
Position Effect ◽  
Telomere Position Effect ◽  
Human Telomerase

scholarly journals ATR-16 syndrome: mechanisms linking monosomy to phenotype

2020 ◽  
Vol 57 (6) ◽  
pp. 414-421 ◽  
Author(s):  
Christian Babbs ◽  
Jill Brown ◽  
Sharon W Horsley ◽  
Joanne Slater ◽  
Evie Maifoshie ◽  
...  
Keyword(s):  
Genetic Background ◽  
Position Effect ◽  
Distal Region ◽  
Chromosome 16 ◽  
Developmental Abnormalities ◽  
Telomere Position Effect ◽  
Contiguous Gene ◽  
Wide Range ◽  
Genetic Background Effects ◽  
Critical Regions

BackgroundDeletions removing 100s–1000s kb of DNA, and variable numbers of poorly characterised genes, are often found in patients with a wide range of developmental abnormalities. In such cases, understanding the contribution of the deletion to an individual’s clinical phenotype is challenging.MethodsHere, as an example of this common phenomenon, we analysed 41 patients with simple deletions of ~177 to ~2000 kb affecting one allele of the well-characterised, gene dense, distal region of chromosome 16 (16p13.3), referred to as ATR-16 syndrome. We characterised deletion extents and screened for genetic background effects, telomere position effect and compensatory upregulation of hemizygous genes.ResultsWe find the risk of developmental and neurological abnormalities arises from much smaller distal chromosome 16 deletions (~400 kb) than previously reported. Beyond this, the severity of ATR-16 syndrome increases with deletion size, but there is no evidence that critical regions determine the developmental abnormalities associated with this disorder. Surprisingly, we find no evidence of telomere position effect or compensatory upregulation of hemizygous genes; however, genetic background effects substantially modify phenotypic abnormalities.ConclusionsUsing ATR-16 as a general model of disorders caused by CNVs, we show the degree to which individuals with contiguous gene syndromes are affected is not simply related to the number of genes deleted but depends on their genetic background. We also show there is no critical region defining the degree of phenotypic abnormalities in ATR-16 syndrome and this has important implications for genetic counselling.

scholarly journals Transcriptional Activity of the Telomeric Retrotransposon HeT-A in Drosophila melanogaster Is Stimulated as a Consequence of Subterminal Deficiencies at Homologous and Nonhomologous Telomeres

2007 ◽  
Vol 27 (13) ◽  
pp. 4991-5001 ◽  
Author(s):  
Radmila Capkova Frydrychova ◽  
Harald Biessmann ◽  
Alexander Y. Konev ◽  
Mikhail D. Golubovsky ◽  
Jessica Johnson ◽  
...  
Keyword(s):  
Drosophila Melanogaster ◽  
Promoter Activity ◽  
Transcriptional Activity ◽  
Position Effect ◽  
Wild Type ◽  
Global Effect ◽  
Transcript Levels ◽  
Telomere Position Effect

ABSTRACT Drosophila melanogaster telomeres have two DNA domains: a terminal array of retrotransposons and a subterminal repetitive telomere-associated sequence (TAS), a source of telomere position effect (TPE). We reported previously that deletion of the 2L TAS array leads to dominant suppression of TPE by stimulating in trans expression of a telomeric transgene. Here, we compared the transcript activities of a w transgene inserted between the retrotransposon and TAS arrays at the 2L telomere in genotypes with different lengths of the 2L TAS. In contrast to individuals bearing a wild-type 2L homologue, flies with a TAS deficiency showed a significant increase in the level of telomeric w transcript during development, especially in pupae. Moreover, we identified a read-through w transcript initiated from a retrotransposon promoter in the terminal array. Read-through transcript levels also significantly increased with the presence of a 2L TAS deficiency in trans, indicating a stimulating force of the TAS deficiency on retrotransposon promoter activity. The read-through transcript contributes to total w transcript, although most w transcript originates at the w promoter. While silencing of transgenes in nonhomologous telomeres is suppressed by 2L TAS deficiencies, suggesting a global effect, the overall level of HeT-A transcripts is not increased under similar conditions.

scholarly journals Vascular smooth muscle cells remodel collagen matrices by long-distance action and anisotropic interaction

2012 ◽  
Vol 50 (7) ◽  
pp. 701-715 ◽  
Author(s):  
Jeroen van den Akker ◽  
Bilge Guvenc Tuna ◽  
Adrian Pistea ◽  
Arie J. J. Sleutel ◽  
Erik N. T. P. Bakker ◽  
...  
Keyword(s):  
Smooth Muscle ◽  
Vascular Smooth Muscle ◽  
Smooth Muscle Cells ◽  
Vascular Smooth Muscle Cells ◽  
Muscle Cells ◽  
Long Distance ◽  
Collagen Matrices ◽  
Anisotropic Interaction

scholarly journals TEL2, an essential gene required for telomere length regulation and telomere position effect in Saccharomyces cerevisiae.

1996 ◽  
Vol 16 (6) ◽  
pp. 3094-3105 ◽  
Author(s):  
K W Runge ◽  
V A Zakian
Keyword(s):  
Saccharomyces Cerevisiae ◽  
Dna Sequences ◽  
Transcriptional Repression ◽  
Protein Complexes ◽  
Essential Gene ◽  
Position Effect ◽  
Repeated Sequence ◽  
Telomeric Dna ◽  
Telomere Position Effect ◽  
Telomere Lengthening

The DNA-protein complexes at the ends of linear eukaryotic chromosomes are called the telomeres. In Saccharomyces cerevisiae, telomeric DNA consists of a variable length of the short repeated sequence C1-3A. The length of yeast telomeres can be altered by mutation, by changing the levels of telomere binding proteins, or by increasing the amount of C1-3A DNA sequences. Cells bearing the tel1-1 or tel2-1 mutations, known previously to have short telomeres, did not respond to perturbations that caused telomere lengthening in wild-type cells. The transcription of genes placed near yeast telomeres is reversibly repressed, a phenomenon called the telomere position effect. The tel2-1 mutation reduced the position effect but did not affect transcriptional repression at the silent mating type cassettes, HMRa and HML alpha. The TEL2 gene was cloned, sequenced, and disrupted. Cells lacking TEL2 function died, with some cells arresting as large cells with three or four small protrusions or "blebs."

scholarly journals ATR16 Syndrome: Mechanisms Linking Monosomy to Phenotype

2019 ◽  
Author(s):  
Christian Babbs ◽  
Jill Brown ◽  
Sharon W. Horsley ◽  
Joanne Slater ◽  
Evie Maifoshie ◽  
...  
Keyword(s):  
Genetic Background ◽  
Position Effect ◽  
Distal Region ◽  
Copy Number Variations ◽  
Chromosome 16 ◽  
Developmental Abnormalities ◽  
Telomere Position Effect ◽  
Wide Range ◽  
Genetic Background Effects ◽  
Critical Regions

AbstractBackgroundSporadic deletions removing 100s-1000s kb of DNA, and variable numbers of poorly characterised genes, are often found in patients with a wide range of developmental abnormalities. In such cases, understanding the contribution of the deletion to an individual’s clinical phenotype is challenging.MethodsHere, as an example of this common phenomenon, we analysed 34 patients with simple deletions of ∼177 to ∼2000 kb affecting one allele of the well characterised, gene dense, distal region of chromosome 16 (16p13.3), referred to as ATR-16 syndrome. We characterised precise deletion extent and screened for genetic background effects, telomere position effect and compensatory up regulation of hemizygous genes.ResultsWe find the risk of developmental and neurological abnormalities arises from much smaller terminal chromosome 16 deletions (∼400 kb) than previously reported. Beyond this, the severity of ATR-16 syndrome increases with deletion size, but there is no evidence that critical regions determine the developmental abnormalities associated with this disorder. Surprisingly, we find no evidence of telomere position effect or compensatory upregulation of hemizygous genes, however, genetic background effects substantially modify phenotypic abnormalities.ConclusionsUsing ATR-16 as a general model of disorders caused by sporadic copy number variations, we show the degree to which individuals with contiguous gene syndromes are affected is not simply related to the number of genes deleted but also depends on their genetic background. We also show there is no critical region defining the degree of phenotypic abnormalities in ATR-16 syndrome and this has important implications for genetic counselling.

Analysis of Mammalian Telomere Position Effect

2004 ◽  
pp. 121-136 ◽  
Author(s):  
Joseph A. Baur ◽  
Woodring E. Wright ◽  
Jerry W. Shay
Keyword(s):  
Position Effect ◽  
Telomere Position Effect
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