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https://www.readbyqxmd.com/read/28328141/a-590-kb-deletion-caused-by-non-allelic-homologous-recombination-between-two-line-1-elements-in-a-patient-with-mesomelia-synostosis-syndrome
#1
Tomohiro Kohmoto, Takuya Naruto, Miki Watanabe, Yuji Fujita, Sae Ujiro, Nana Okamoto, Hideaki Horikawa, Kiyoshi Masuda, Issei Imoto
Mesomelia-synostoses syndrome (MSS) is a rare, autosomal-dominant, syndromal osteochondrodysplasia characterized by mesomelic limb shortening, acral synostoses, and multiple congenital malformations due to a non-recurrent deletion at 8q13 that always encompasses two coding-genes, SULF1 and SLCO5A1. To date, five unrelated patients have been reported worldwide, and MMS was previously proposed to not be a genomic disorder associated with deletions recurring from non-allelic homologous recombination (NAHR) in at least two analyzed cases...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28315054/a-preliminary-investigation-of-noise-impact-within-metro-stations-in-the-urban-city-of-guangzhou-china
#2
Peng Wang, Yimin Wang, Chao Zou, Jixing Guo
The noise in the metro station is synthesized from a variety of different noise sources. Excessive noise exposure will bring serious impacts on humans' health. To alleviate the shortage of the urban land, most metro stations are planning to develop convenience stores and shopping malls. In order to evaluate the potential noise impact on humans' comfort in the metro stations, this study selected four representative stations of Guangzhou Metro Line 1 to carry out a preliminary questionnaire survey of 226 respondents for the perception and perform a noise measurement...
March 17, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28300471/decoupling-of-dna-methylation-and-activity-of-intergenic-line-1-promoters-in-colorectal-cancer
#3
Natasha Vafadar-Isfahani, Christina Parr, Lara E McMillan, Juliane Sanner, Zhao Yeo, Stephen Saddington, Oliver Peacock, Hazel A Cruickshanks, Richard R Meehan, Jonathan N Lund, Cristina Tufarelli
Hypomethylation of LINE-1 repeats in cancer has been proposed as the main mechanism behind their activation; this assumption, however, was based on findings from early studies that were biased towards young and transpositionally active elements. Here, we investigate the relationship between methylation of two intergenic, transpositionally inactive LINE-1 elements and expression of the LINE-1 chimeric transcript (LCT) 13 and LCT14 driven by their antisense promoters (L1-ASP). Our data from DNA modification, expression, and 5'RACE analyses suggest that colorectal cancer methylation in the regions analyzed is not always associated with LCT repression...
March 16, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28293326/line-1-is-preferentially-hypomethylated-within-adenomatous-polyps-in-the-presence-of-synchronous-colorectal-cancer
#4
Alice Chu Jiang, Lela Buckingham, William Barbanera, Amoah Yeboah Korang, Faraz Bishesari, Joshua Melson
BACKGROUND: Conventional tubular adenomas are frequently detected in patients undergoing average risk screening colonoscopy and are over-represented in patients who will develop colorectal cancer (CRC). Whether features of adenomas could serve as predictors of synchronous CRC is not known. Here, we investigate whether global methylation markers, including LINE-1, differ within adenomas in patients with and without synchronous CRC. METHODS: Colorectal tubular/tubulovillous adenomatous polyps in the absence (P group, n = 45) and in the presence of synchronous CRC (PC group, n = 32) were identified...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28270149/chronic-exposure-to-arsenic-line-1-hypomethylation-and-blood-pressure-a-cross-sectional-study-in-bangladesh
#5
Khaled Hossain, Takehiro Suzuki, M M Hasibuzzaman, Md Shofikul Islam, Atiqur Rahman, Sudip Kumar Paul, Tanzina Tanu, Shakhawoat Hossain, Zahangir Alam Saud, Mashiur Rahman, Farjana Nikkon, Hideki Miyataka, Seiichiro Himeno, Keiko Nohara
BACKGROUND: Chronic exposure to arsenic is associated with cancer and hypertension. Growing evidence suggests that altered methylation in long interspersed nuclear element-1 (LINE-1) is involved in many types of disorders, including cardiovascular disease. Here we evaluated the association between arsenic exposure and LINE-1 methylation levels, especially in relation to blood pressure (BP). METHODS: A total of 236 subjects (175 from arsenic-endemic areas and 61 from a non-endemic area) in rural Bangladesh were recruited...
March 7, 2017: Environmental Health: a Global Access Science Source
https://www.readbyqxmd.com/read/28261276/dietary-intake-is-associated-with-respiratory-health-outcomes-and-dna-methylation-in-children-with-asthma
#6
L Montrose, T J Ward, E O Semmens, Y H Cho, B Brown, C W Noonan
BACKGROUND: Asthma is an increasingly common chronic disease among children, and data point toward a complex mechanism involving genetic, environmental and epigenetic factors. Epigenetic modifications such as DNA hypo- or hyper-methylation have been shown to occur in response to environmental exposures including dietary nutrients. METHODS: Within the context of the asthma randomized trial of indoor wood smoke (ARTIS) study, we investigated relationships between diet, asthma health measures, and DNA methylation...
2017: Allergy, Asthma, and Clinical Immunology
https://www.readbyqxmd.com/read/28258386/assessing-the-combined-effect-of-extremely-low-frequency-magnetic-field-exposure-and-oxidative-stress-on-line-1-promoter-methylation-in-human-neural-cells
#7
Gianfranco Giorgi, Chiara Pirazzini, Maria Giulia Bacalini, Cristina Giuliani, Paolo Garagnani, Miriam Capri, Ferdinando Bersani, Brunella Del Re
Extremely low frequency magnetic fields (ELF-MF) have been classified as "possibly carcinogenic", but their genotoxic effects are still unclear. Recent findings indicate that epigenetic mechanisms contribute to the genome dysfunction and it is well known that they are affected by environmental factors. To our knowledge, to date the question of whether exposure to ELF-MF can influence epigenetic modifications has been poorly addressed. In this paper, we investigated whether exposure to ELF-MF alone and in combination with oxidative stress (OS) can affect DNA methylation, which is one of the most often studied epigenetic modification...
March 3, 2017: Radiation and Environmental Biophysics
https://www.readbyqxmd.com/read/28256616/dose-and-time-effect-responses-of-dna-methylation-and-histone-h3k9-acetylation-changes-induced-by-traffic-related-air-pollution
#8
Rui Ding, Yongtang Jin, Xinneng Liu, Huaizhuang Ye, Ziyi Zhu, Yuan Zhang, Ting Wang, Yinchun Xu
As an important risk factor of respiratory disorders, traffic-related air pollution (TRAP) has caused extensive concerns. Epigenetic change has been considered a link between TRAP and respiratory diseases. However, the exact effects of TRAP on epigenetic changes are still unclear. Here we investigated the dose- and time- effect responses of TRAP on DNA methylations and H3K9 acetylation (H3K9ac) in both blood and lung tissues of rats. The findings showed that every 1 μg/m(3) increase of TRAP components were associated with changes in %5 mC (95% CI) in LINE-1, iNOS, p16(CDKN2A), and APC ranging from -0...
March 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28252169/selecting-black-spot-resistant-papaya-genotypes-derived-from-backcrossing-and-hybrids
#9
T P S Poltronieri, S F Silveira, M Vivas, R Santa Catarina, D F M Cortes, A O N Azevedo, M G Pereira
Papaya crop is important to Brazilian agribusiness. However, the expansion of papaya cultivation in the country is affected by the absence of commercial cultivars presenting good disease resistance. The black-spot caused by the fungus Asperisporium caricae is the most damaging foliar disease affecting Brazilian papaya crops. The use of genetically resistant cultivars is a promising strategy to reduce the dependence of papaya crops on fungicides. A field split-plot experiment was carried out in the municipality of Linhares, Espírito Santo State, and included 20 hybrids derived from the cross between 14 superior lines and four elite genotypes ('SS72/12', 'SEKATI', 'JS/12' and '41/7'), two commercial cultivars ('Golden' and 'Tainung 01'), and the superior line '36/7', which were evaluated for resistance to black-spot in the fruits and leaves...
February 23, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28236013/needlescopic-sleeve-gastrectomy-pushing-the-boundaries-of-the-standard-technique
#10
Marcelo Loureiro, Abdulah Sultan, Mohannad Alhaddad, Hatem Mostafa, David Nocca, Marius Nedelcu, Walled Buhaimed
BACKGROUND: Laparoscopic sleeve gastrectomy (LSG) is the most common bariatric surgery performed worldwide. Improvements in LSG have been suggested to achieve better weight loss or to lessen the complications rates. We propose a change in the standard technique to privilege the use of thinner instruments, the needlescopic sleeve gastrectomy (NSG). METHODS: A 40-year-old female, BMI 40, with no previous abdominal surgery was selected for a NSG. She was placed in a semi-sitting position with the surgeon standing between the legs...
February 24, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28220356/overexpression-of-line-1-retrotransposons-in-autism-brain
#11
Svitlana Shpyleva, Stepan Melnyk, Oleksandra Pavliv, Igor Pogribny, S Jill James
Long interspersed nuclear elements-1 (LINE-1 or L1) are mobile DNA sequences that are capable of duplication and insertion (retrotransposition) within the genome. Recently, retrotransposition of L1 was shown to occur within human brain leading to somatic mosaicism in hippocampus and cerebellum. Because unregulated L1 activity can promote genomic instability and mutagenesis, multiple mechanisms including epigenetic chromatin condensation have evolved to effectively repress L1 expression. Nonetheless, L1 expression has been shown to be increased in patients with Rett syndrome and schizophrenia...
February 20, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28194445/diverse-repetitive-element-rna-expression-defines-epigenetic-and-immunologic-features-of-colon-cancer
#12
Niyati Desai, Dipti Sajed, Kshitij S Arora, Alexander Solovyov, Mihir Rajurkar, Jacob R Bledsoe, Srinjoy Sil, Ramzi Amri, Eric Tai, Olivia C MacKenzie, Mari Mino-Kenudson, Martin J Aryee, Cristina R Ferrone, David L Berger, Miguel N Rivera, Benjamin D Greenbaum, Vikram Deshpande, David T Ting
There is tremendous excitement for the potential of epigenetic therapies in cancer, but the ability to predict and monitor response to these drugs remains elusive. This is in part due to the inability to differentiate the direct cytotoxic and the immunomodulatory effects of these drugs. The DNA-hypomethylating agent 5-azacitidine (AZA) has shown these distinct effects in colon cancer and appears to be linked to the derepression of repeat RNAs. LINE and HERV are two of the largest classes of repeats in the genome, and despite many commonalities, we found that there is heterogeneity in behavior among repeat subtypes...
February 9, 2017: JCI Insight
https://www.readbyqxmd.com/read/28188229/the-human-long-interspersed-element-1-retrotransposon-an-emerging-biomarker-of-neoplasia
#13
REVIEW
Daniel Ardeljan, Martin S Taylor, David T Ting, Kathleen H Burns
BACKGROUND: A large portion of intronic and intergenic space in our genome consists of repeated sequences. One of the most prevalent is the long interspersed element-1 (LINE-1, L1) mobile DNA. LINE-1 is rightly receiving increasing interest as a cancer biomarker. CONTENT: Intact LINE-1 elements are self-propagating. They code for RNA and proteins that function to make more copies of the genomic element. Our current understanding is that this process is repressed in most normal cells, but that LINE-1 expression is a hallmark of many types of malignancy...
February 10, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28186176/dual-immunomagnetic-nanobeads-based-lateral-flow-test-strip-for-simultaneous-quantitative-detection-of-carcinoembryonic-antigen-and-neuron-specific-enolase
#14
Wenting Lu, Kan Wang, Kun Xiao, Weijian Qin, Yafei Hou, Hao Xu, Xinyu Yan, Yanrong Chen, Daxiang Cui, Jinghua He
A novel immunomagnetic nanobeads -based lateral flow test strip was developed for the simultaneous quantitative detection of neuron specific enolase (NSE) and carcinoembryonic antigen (CEA), which are sensitive and specific in the clinical diagnosis of small cell lung cancer. Using this nanoscale method, high saturation magnetization, carboxyl-modified magnetic nanobeads were successfully synthesized. To obtain the immunomagnetic probes, a covalent bioconjugation of the magnetic nanobeads with the antibody of NSE and CEA was carried out...
February 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28175298/the-evolution-of-line-1-in-vertebrates
#15
Stéphane Boissinot, Akash Sookdeo
No abstract text is available yet for this article.
December 1, 2016: Genome Biology and Evolution
https://www.readbyqxmd.com/read/28174687/dicer-a-new-regulator-of-pluripotency-exit-and-line-1-elements-in-mouse-embryonic-stem-cells
#16
Maxime Bodak, Daniel Cirera-Salinas, Jian Yu, Richard P Ngondo, Constance Ciaudo
A gene regulation network orchestrates processes ensuring the maintenance of cellular identity and genome integrity. Small RNAs generated by the RNAse III DICER have emerged as central players in this network. Moreover, deletion of Dicer in mice leads to early embryonic lethality. To better understand the underlying mechanisms leading to this phenotype, we generated Dicer-deficient mouse embryonic stem cells (mESCs). Their detailed characterization revealed an impaired differentiation potential, and incapacity to exit from the pluripotency state...
February 2017: FEBS Open Bio
https://www.readbyqxmd.com/read/28174046/prenatal-exposure-to-drinking-water-disinfection-by-products-and-dna-methylation-in-cord-blood
#17
Pan Yang, Bin Zhou, Wen-Cheng Cao, Yi-Xin Wang, Zhen Huang, Jin Li, Wen-Qing Lu, Qiang Zeng
Maternal exposure to drinking water disinfection by-products (DBPs) during pregnancy has been related to adverse birth outcomes. While experimental studies have shown that exposure to DBPs induce DNA hypomethylation, evidence from humans is limited. This study aimed to examine whether prenatal exposure to drinking water DBPs was associated with DNA methylation in cord blood. Maternal biomarkers of exposure to drinking water DBPs including blood trihalomethanes [THMs, including chloroform (TCM), bromodichloromethane (BDCM), dibromochloromethane (DBCM), and bromoform (TBM)] and urinary trichloroacetic acid (TCAA) were measured during late pregnancy...
May 15, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28167501/comprehensive-characterization-of-neutrophil-genome-topology
#18
Yina Zhu, Ke Gong, Matthew Denholtz, Vivek Chandra, Mark P Kamps, Frank Alber, Cornelis Murre
Neutrophils are responsible for the first line of defense against invading pathogens. Their nuclei are uniquely structured as multiple lobes that establish a highly constrained nuclear environment. Here we found that neutrophil differentiation was not associated with large-scale changes in the number and sizes of topologically associating domains (TADs). However, neutrophil genomes were enriched for long-range genomic interactions that spanned multiple TADs. Population-based simulation of spherical and toroid genomes revealed declining radii of gyration for neutrophil chromosomes...
January 15, 2017: Genes & Development
https://www.readbyqxmd.com/read/28166262/l1-retrotransposon-expression-in-circulating-tumor-cells
#19
Ioannis Papasotiriou, Katerina Pantopikou, Panagiotis Apostolou
Long interspersed nuclear element 1 (LINE-1 or L1) belongs to the non-long terminal repeat (non-LTR) retrotransposon family, which has been implicated in carcinogenesis and disease progression. Circulating tumor cells (CTCs) are also known to be involved in cancer progression. The present study aimed to compare the L1 expression between circulating tumor cells and non-cancerous samples. Blood samples were collected from 10 healthy individuals and 22 patients with different types of cancer. The whole blood cells were isolated using enrichment protocols and the DNA and RNA were extracted...
2017: PloS One
https://www.readbyqxmd.com/read/28160561/an-association-between-overexpression-of-dna-methyltransferase-3b4-and-clear-cell-renal-cell-carcinoma
#20
You Liu, Liantao Sun, Peter Fong, Jie Yang, Zhuxia Zhang, Shuihui Yin, Shuyuan Jiang, Xiaolei Liu, Hongge Ju, Lihua Huang, Jing Bai, Kerui Gong, Shaochun Yan, Chunyang Zhang, Guo Shao
It is well known that abnormal DNA methylations occur frequently in kidney cancer. However, it remains unclear exactly which types of DNA methyltransferases (DNMT) contribute to the pathologies of kidney cancers. In order to determine the functions of DNA methyltransferase in kidney tumorigenesis on the molecular level, we examined the mRNA expression levels of DNMT1, DNMT3A, DNMT3B, and DNMT3B variants in renal cell carcinoma tissue. Both mRNA and protein levels of DNMT3B4, a splice variant of DNMT3B, were increased in renal cell carcinoma tissue compared with adjacent control tissues...
February 1, 2017: Oncotarget
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