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https://www.readbyqxmd.com/read/28822964/moderate-to-severe-obstructive-sleep-apnea-is-associated-with-telomere-lengthening
#1
Katarzyna Polonis, Virend K Somers, Christiane Becari, Naima Covassin, Phillip J Schulte, Brooke R Druliner, Ruth A Johnson, Krzysztof Narkiewicz, Lisa A Boardman, Prachi Singh
Obstructive sleep apnea (OSA) is associated with cardiometabolic diseases. Telomere shortening is linked to hypertension, diabetes mellitus, and cardiovascular diseases. Because these conditions are highly prevalent in OSA, we hypothesized that telomere length (TL) would be reduced in OSA patients. We identified 106 OSA and 104 non-OSA subjects who underwent polysomnography evaluation. Quantitative PCR was used to measure telomere length in genomic DNA isolated from peripheral blood samples. The association between OSA and TL was determined using unadjusted and adjusted linear models...
August 19, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28821750/rap1-and-cdc13-have-complementary-roles-in-preventing-exonucleolytic-degradation-of-telomere-5-ends
#2
Rikard Runnberg, Saishyam Narayanan, Marita Cohn
Telomere DNA ends with a single-stranded 3' overhang. Long 3' overhangs may cause aberrant DNA damage responses and accelerate telomere attrition, which is associated with cancer and aging, respectively. Genetic studies have indicated several important players in preventing 5' end hyper-resection, yet detailed knowledge about the molecular mechanism in which they act is still lacking. Here, we use an in vitro DNA 5' end protection assay, to study how N. castellii Cdc13 and Rap1 protect against 5' exonucleolytic degradation by λ-exonuclease...
August 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28819029/loss-of-the-tumor-suppressor-stag2-promotes-telomere-recombination-and-extends-the-replicative-lifespan-of-normal-human-cells
#3
Zharko Daniloski, Susan Smith
Sister chromatids are held together by cohesin, a tripartite ring with a peripheral SA1/2 subunit, where SA1 is required for telomere cohesion and SA2 for centromere cohesion. The STAG2 gene encoding SA2 is often inactivated in human cancer, but not in in a manner associated with aneuploidy. Thus, how these tumors maintain chromosomal cohesion and how STAG2 loss contributes to tumorigenesis remain open questions. Here we show that, despite a loss in centromere cohesion, sister chromatids in STAG2 mutant tumor cells maintain cohesion in mitosis at chromosome arms and telomeres...
August 17, 2017: Cancer Research
https://www.readbyqxmd.com/read/28818973/mutations-in-the-promoter-of-the-telomerase-gene-tert-contribute-to-tumorigenesis-by-a-two-step-mechanism
#4
Kunitoshi Chiba, Franziska K Lorbeer, A Hunter Shain, David T McSwiggen, Eva Schruf, Areum Oh, Jekwan Ryu, Xavier Darzacq, Boris C Bastian, Dirk Hockemeyer
TERT promoter mutations (TPMs) are the most common non-coding mutations in cancer. The timing and consequences of TPMs have not been fully established. Here we show that TPMs acquired at the transition from benign nevus to malignant melanoma do not support telomere maintenance. In vitro experiments revealed that TPMs do not prevent telomere attrition, resulting in cells with critically short and unprotected telomeres. Immortalization by TPMs requires a gradual upregulation of telomerase, coinciding with telomere fusions...
August 17, 2017: Science
https://www.readbyqxmd.com/read/28818345/mobile-group-ii-introns-as-ancestral-eukaryotic-elements
#5
REVIEW
Olga Novikova, Marlene Belfort
The duality of group II introns, capable of carrying out both self-splicing and retromobility reactions, is hypothesized to have played a profound role in the evolution of eukaryotes. These introns likely provided the framework for the emergence of eukaryotic retroelements, spliceosomal introns and other key components of the spliceosome. Group II introns are found in all three domains of life and are therefore considered to be exceptionally successful mobile genetic elements. Initially identified in organellar genomes, group II introns are found in bacteria, chloroplasts, and mitochondria of plants and fungi, but not in nuclear genomes...
August 14, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28817217/mind-the-cell-seasonal-variation-in-telomere-length-mirrors-changes-in-leukocyte-profile
#6
Michaël Beaulieu, Laure Benoit, Steven Abaga, Peter M Kappeler, Marie J E Charpentier
Leukocytes are typically considered as a whole in studies examining telomere dynamics in mammals. Such an approach may be precarious, as leukocytes represent the only nucleated blood cells in mammals, their composition varies temporally, and telomere length differs between leukocyte types. To highlight this limitation, we examined here whether seasonal variation in leukocyte composition was related to variation in telomere length in free-ranging mandrills (Mandrilllus sphinx). We found that the leukocyte profile of mandrills varied seasonally, with lower lymphocyte proportion being observed during the long dry season presumably because of the combined effects of high nematode infection and stress at that time of the year...
August 17, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28817123/evaluation-of-telomere-length-in-human-cardiac-tissues-using-cardiac-quantitative-fish
#7
Maryam Sharifi-Sanjani, Alan K Meeker, Foteini Mourkioti
Telomere length has been correlated with various diseases, including cardiovascular disease and cancer. The use of currently available telomere-length measurement techniques is often restricted by the requirement of a large amount of cells (Southern-based techniques) or the lack of information on individual cells or telomeres (PCR-based methods). Although several methods have been used to measure telomere length in tissues as a whole, the assessment of cell-type-specific telomere length provides valuable information on individual cell types...
September 2017: Nature Protocols
https://www.readbyqxmd.com/read/28816228/association-of-adiposity-telomere-length-and-mortality-data-from-the-nhanes-1999-2002
#8
J A Batsis, T A Mackenzie, E Vasquez, C M Germain, R T Emeny, P Rippberger, F Lopez-Jimenez, S J Bartels
BACKGROUND/OBJECTIVES: Telomere shortening is associated with age and risk of medical co-morbidity. We assessed the relationship between measures of adiposity, leukocyte telomere length, and mortality and whether it is modified by age. SUBJECTS/METHODS: Subjects with dual energy x-ray absorptiometry (DEXA) measures were identified using the National Health and Nutrition Examination Survey 1999-2002. Obesity was categorized using two body fat definitions (BF1%: men ⩾25%; females ⩾35%; BF2% ⩾28% and ⩾38%, respectively), body mass index (BMI), and waist circumference (WC) (men ⩾102 cm; females ⩾88 cm)...
August 16, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28815563/bone-marrow-failure-syndrome-caused-by-homozygous-frameshift-mutation-in-the-ercc6l2-gene
#9
Tekla Järviaho, Kimmo Halt, Pasi Hirvikoski, Jukka Moilanen, Merja Möttönen, Riitta Niinimäki
Inherited bone marrow failure syndromes (IBMFS) are group of disorders that lead to inadequate production of blood cells. Mutations in genes involved in telomere maintenance, DNA repair, and the cell cycle cause IBMFS. ERCC6L2 gene mutations have been associated with bone marrow failure that includes developmental delay and microcephaly. We report two cases of bone marrow failure with no extra-hematopoietic manifestations in patients from unrelated families with a homozygous truncating mutation in ERCC6L2. Bone marrow failure without developmental delay or microcephaly with ERCC6L2 mutation has not been previously described...
August 16, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28815538/long-noncoding-rnas-in-the-yeast-s-%C3%A2-cerevisiae
#10
Rachel O Niederer, Evan P Hass, David C Zappulla
Long noncoding RNAs have recently been discovered to comprise a sizeable fraction of the RNA World. The scope of their functions, physical organization, and disease relevance remain in the early stages of characterization. Although many thousands of lncRNA transcripts recently have been found to emanate from the expansive DNA between protein-coding genes in animals, there are also hundreds that have been found in simple eukaryotes. Furthermore, lncRNAs have been found in the bacterial and archaeal branches of the tree of life, suggesting they are ubiquitous...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28815183/pinx1-is-a-potential-prognostic-factor-for-non-small-cell-lung-cancer-and-inhibits-cell-proliferation-and-migration
#11
Shengguang Wang, Hua Zhang, Jianquan Zhu, Chenguang Li, Jinfang Zhu, Bowen Shi, Bin Zhang, Changli Wang
PinX1 has been identified as a suppressor of telomerase enzymatic activity. However, the tumour-suppressive roles of PinX1 in different types of human cancers are unclear. PinX1 expression status and its correlation with clinicopathological features in non-small-cell lung cancer (NSCLC) have not been investigated. Accordingly, in this study, we aimed to evaluate the roles of PinX1 in NSCLC. PinX1 expression status was examined by immunohistochemistry using tissue microarray from a total of 158 patients. Correlations among PinX1 expression, clinicopathological variables, and patient survival were analysed...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28813500/telomere-biology-and-telomerase-mutations-in-cirrhotic-patients-with-hepatocellular-carcinoma
#12
Flávia S Donaires, Natália F Scatena, Raquel M Alves-Paiva, Joshua D Podlevsky, Dhenugen Logeswaran, Barbara A Santana, Andreza C Teixeira, Julian J-L Chen, Rodrigo T Calado, Ana L C Martinelli
Telomeres are repetitive DNA sequences at linear chromosome termini, protecting chromosomes against end-to-end fusion and damage, providing chromosomal stability. Telomeres shorten with mitotic cellular division, but are maintained in cells with high proliferative capacity by telomerase. Loss-of-function mutations in telomere-maintenance genes are genetic risk factors for cirrhosis development in humans and murine models. Telomerase deficiency provokes accelerated telomere shortening and dysfunction, facilitating genomic instability and oncogenesis...
2017: PloS One
https://www.readbyqxmd.com/read/28812991/the-retinoblastoma-rb-tumor-suppressor-pushing-back-against-genome-instability-on-multiple-fronts
#13
REVIEW
Renier Vélez-Cruz, David G Johnson
The retinoblastoma (RB) tumor suppressor is known as a master regulator of the cell cycle. RB is mutated or functionally inactivated in the majority of human cancers. This transcriptional regulator exerts its function in cell cycle control through its interaction with the E2F family of transcription factors and with chromatin remodelers and modifiers that contribute to the repression of genes important for cell cycle progression. Over the years, studies have shown that RB participates in multiple processes in addition to cell cycle control...
August 16, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28811878/magellanic-penguin-telomeres-do-not-shorten-with-age-with-increased-reproductive-effort-investment-and-basal-corticosterone
#14
Jack A Cerchiara, Rosa Ana Risques, Donna Prunkard, Jeffrey R Smith, Olivia J Kane, P Dee Boersma
All species should invest in systems that enhance longevity; however, a fundamental adult life-history trade-off exists between the metabolic resources allocated to maintenance and those allocated to reproduction. Long-lived species will invest more in reproduction than in somatic maintenance as they age. We investigated this trade-off by analyzing correlations among telomere length, reproductive effort and output, and basal corticosterone in Magellanic penguins (Spheniscus magellanicus). Telomeres shorten with age in most species studied to date, and may affect adult survival...
August 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28811689/expression-of-telomere-binding-proteins-rap1-and-pot1-in-renal-cell-carcinoma-and-their-correlation-with-clinicopathological-parameters
#15
Deeksha Pal, Shrawan Kumar Singh, Nandita Kakkar, Rajendra Prasad
Telomere stability is indispensable for continuous proliferation of cells. Telomere structure is maintained by group of six proteins termed as shelterin. RAP1 and POT1 proteins are significant members of shelterin complex. Expression of RAP1 and POT1 are crucial for telomere maintenance and hence uncontrolled division of cells. Notably, expression of RAP1 and POT1 is unknown in renal cell carcinoma (RCC). In view of these facts, the present study was initiated to investigate the expression of RAP1 and POT1 in RCC and their relationships with clinicopathological features...
July 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28811188/familial-1p36-3-microduplication-resulting-from-a-1p-9q-non-reciprocal-translocation
#16
Valentine Marquet, Sylvie Bourthoumieu, Amelia Dobrescu, Cécile Laroche-Raynaud, Catherine Yardin
Unlike the 1p36 microdeletion syndrome, which has been extensively described, 1p36 microduplications have rarely been reported. We describe a three years old boy presenting with a severe global developmental delay and a few dysmorphic features. Cytogenetic analyses revealed a maternally inherited 3.35 Mb microduplication of chromosomal band 1p36.3. The maternal grand-father is also carrier of the same chromosomal rearrangement. Interestingly, the duplicated 1p36.3 segment was found to be localized at the telomeric end of the long arms of a chromosome 9, probably deriving from a 1p36...
August 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28808664/expression-of-telomere-repeat-binding-factor-1-and-trf2-in-prostate-cancer-and-correlation-with-clinical-parameters
#17
Wei Chen, Yong Wang, Fei Li, Wei Lin, Yong Liang, Zhiwei Ma
OBJECTIVE: The objective of this study was to investigate the expression of telomere repeat binding factor 1 (TRF1) and TRF2 in prostate cancer and their relationships with clinicopathological features. METHODS: In total 50 prostate cancer tissues and paired benign prostate hyperplasia tissues were analyzed. The telomere-binding proteins TRF1 and TRF2 were measured using immunohistochemical method. Correlation analyses were used to evaluate the association between immunohistochemical score and clinical parameters...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28807855/spatial-organization-and-molecular-interactions-of-the-schizosaccharomyces-pombe-ccq1-tpz1-poz1-shelterin-complex
#18
Harry Scott, Jin-Kwang Kim, Clinton Yu, Lan Huang, Feng Qiao, Derek J Taylor
The shelterin complex is a macromolecular assembly of proteins that binds to and protects telomeric DNA, which composes the ends of all linear chromosomes. Shelterin proteins prevent chromosome ends from fusing together and from eliciting erroneous induction of DNA damage response pathways. Additionally, shelterin proteins play key roles in regulating the recruitment and activation of telomerase, an enzyme that extends telomeric DNA. In fission yeast, Schizosaccharomyces pombe, interactions between the shelterin proteins Ccq1, Tpz1, and Poz1, are important for regulating telomerase-mediated telomere synthesis, and thus, telomere length homeostasis...
August 11, 2017: Journal of Molecular Biology
https://www.readbyqxmd.com/read/28805810/trf2-binds-branched-dna-to-safeguard-telomere-integrity
#19
Isabelle Schmutz, Leonid Timashev, Wei Xie, Dinshaw J Patel, Titia de Lange
Although t-loops protect telomeres, they are at risk of cleavage by Holliday junction (HJ) resolvases if branch migration converts the three-way t-loop junction into four-way HJs. T-loop cleavage is repressed by the TRF2 basic domain, which binds three- and four-way junctions and protects HJs in vitro. By replacing the basic domain with bacterial-protein domains binding three- and four-way junctions, we demonstrated the in vivo relevance of branched-DNA binding. Branched-DNA binding also repressed PARP1, presumably by masking the PARP1 site in the t-loop junction...
August 14, 2017: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/28805708/correlation-of-leukocyte-telomere-length-measurement-methods-in-patients-with-dyskeratosis-congenita-and-in-their-unaffected-relatives
#20
Payal P Khincha, Casey L Dagnall, Belynda Hicks, Kristine Jones, Abraham Aviv, Masayuki Kimura, Hormuzd Katki, Geraldine Aubert, Neelam Giri, Blanche P Alter, Sharon A Savage, Shahinaz M Gadalla
Several methods have been employed to measure telomere length (TL) in human studies. It has been difficult to directly compare the results from these studies because of differences in the laboratory techniques and output parameters. We compared TL measurements (TLMs) by the three most commonly used methods, quantitative polymerase chain reaction (qPCR), flow cytometry with fluorescence in situ hybridization (flow FISH) and Southern blot, in a cohort of patients with the telomere biology disorder dyskeratosis congenita (DC) and in their unaffected relatives (controls)...
August 13, 2017: International Journal of Molecular Sciences
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