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Genetics & Epigenetics

Sascha Tierling, Beate Schmitt, Jörn Walter
DNA methylation is the most studied epigenetic modification with a wide range of regulatory functions in mammalian genomes. It almost exclusively resides on CpG dinucleotides and, among others, plays important roles in early embryo development, onset, and maintenance of cancer. During the past 3 decades, many approaches have been developed to discriminate methylated from unmethylated DNA including antibody-based enrichment of methylated DNA, restriction enzyme-based, or hybridization-based methods. The conversion of unmethylated cytosines to uracils by sodium or ammonium bisulfite is regarded as golden standard as this approach requires no enzymatic reaction and provides deep and reliable insight in methylation patterns at single-base resolution...
2018: Genetics & Epigenetics
Tanapat Pangeson, Phanchana Sanguansermsri, Torpong Sanguansermsri, Teerapat Seeratanachot, Narutchala Suwanakhon, Metawee Srikummool, Worasak Kaewkong, Khwanruedee Mahingsa
In the wild-type allele, DNA methylation levels of 10 consecutive CpG sites adjacent to the upstream 5'-breakpoint of α-thalassemia Southeast Asian (SEA) deletion are not different between placenta and leukocytes. However, no previous study has reported the map of DNA methylation in the SEA allele. This report aims to show that the SEA mutation is associated with DNA methylation changes, resulting in differential methylation between placenta and leukocytes. Methylation-sensitive high-resolution analysis was used to compare DNA methylation among placenta, leukocytes, and unmethylated control DNA...
2017: Genetics & Epigenetics
Karen S Bishop, Huawen Xu, Gareth Marlow
Colorectal cancer (CRC) is the third most common cause of cancer mortality globally. Development of CRC is closely associated with lifestyle, and diet may modulate risk. A Western-style diet is characterised by a high intake of red meat but low consumption of fruit, vegetables, and whole cereals. Such a diet is associated with CRC risks. It has been demonstrated that butyrate, produced by the fermentation of dietary plant fibre, can alter both genetic and epigenetic expressions. MicroRNAs (miRNAs) are small non-coding RNAs that are commonly present in both normal and tumour cells...
2017: Genetics & Epigenetics
Su Chen, Nandini Mukherjee, Vimala Devi Janjanam, S Hasan Arshad, Ramesh J Kurukulaaratchy, John W Holloway, Hongmei Zhang, Wilfried Karmaus
Prior DNA methylation (DNA-m) analyses have identified cytosine-phosphate-guanine (CpG) sites, which show either a significant change or consistency during lifetime. However, the proportion of CpGs that are neither significantly different nor consistent over time (indifferent CpGs) is unknown. We investigated the methylation dynamics, both longitudinal changes and consistency, in women from preadolescence to late pregnancy using DNA-m of peripheral blood cells. Consistency of cell type-adjusted DNA-m between paired individuals was assessed by regressing CpGs of subsequent age on the prior, stability by intraclass correlation coefficients (>0...
2017: Genetics & Epigenetics
Bernard F Fuemmeler, Chien-Ti Lee, Adelheid Soubry, Edwin S Iversen, Zhiqing Huang, Amy P Murtha, Joellen M Schildkraut, Randy L Jirtle, Susan K Murphy, Cathrine Hoyo
BACKGROUND: DNA methylation of the differentially methylated regions (DMRs) of imprinted genes is relevant to neurodevelopment. METHODS: DNA methylation status of the DMRs of nine imprinted genes in umbilical cord blood leukocytes was analyzed in relation to infant behaviors and temperament (n = 158). RESULTS: MEG3 DMR levels were positively associated with internalizing (β = 0.15, P = 0.044) and surgency (β = 0.19, P = 0.018) behaviors, after adjusting for birth weight, gender, gestational age at birth, maternal age at delivery, race/ethnicity, education level, smoking status, parity, and a history of anxiety or depression...
2016: Genetics & Epigenetics
Ana L Arellano-Ortiz, Mauricio Salcedo-Vargas, Claudia L Vargas-Requena, José A López-Díaz, Antonio De la Mora-Covarrubias, Juan C Silva-Espinoza, Florinda Jiménez-Vega
This study determined the methylation status of cellular retinoic acid-binding protein (CRABP) gene promoters and associated them with demographic characteristics, habits, and the presence of human papilloma virus (HPV) in patients with cervical cancer (CC), low and high squamous intraepithelial lesions, and no intraepithelial lesion. Women (n = 158) were selected from the Colposcopy Clinic of Sanitary Jurisdiction II in Ciudad Juarez, Chihuahua, Mexico. Demographic characteristics and habit information were collected...
2016: Genetics & Epigenetics
Wenyi Xu, Fengzhong Wang, Zhongsheng Yu, Fengjiao Xin
Living eukaryotic systems evolve delicate cellular mechanisms for responding to various environmental signals. Among them, epigenetic machinery (DNA methylation, histone modifications, microRNAs, etc.) is the hub in transducing external stimuli into transcriptional response. Emerging evidence reveals the concept that epigenetic signatures are essential for the proper maintenance of cellular metabolism. On the other hand, the metabolite, a main environmental input, can also influence the processing of epigenetic memory...
2016: Genetics & Epigenetics
Jifang Xiao, Daniel H Mai, Liangqi Xie
The rodent naive pluripotent state is believed to represent the preimplantation inner cell mass state of the developing blastocyst and can derive self-renewing pluripotent embryonic stem cells (ESCs) in vitro. Nevertheless, human ESCs exhibit epigenetic, metabolic, and transcriptomic characteristics more akin to primed pluripotent stem cells (PSCs) derived from the postimplantation epiblast. Understanding the genetic and epigenetic mechanisms that constrain human ESCs in the primed state is crucial for the human naive pluripotent state resetting and numerous applications in regenerative medicine...
2016: Genetics & Epigenetics
Amber Willbanks, Meghan Leary, Molly Greenshields, Camila Tyminski, Sarah Heerboth, Karolina Lapinska, Kathryn Haskins, Sibaji Sarkar
The evolution process includes genetic alterations that started with prokaryotes and now continues in humans. A distinct difference between prokaryotic chromosomes and eukaryotic chromosomes involves histones. As evolution progressed, genetic alterations accumulated and a mechanism for gene selection developed. It was as if nature was experimenting to optimally utilize the gene pool without changing individual gene sequences. This mechanism is called epigenetics, as it is above the genome. Curiously, the mechanism of epigenetic regulation in prokaryotes is strikingly different from that in eukaryotes, mainly higher eukaryotes, like mammals...
2016: Genetics & Epigenetics
Frank Barning, Taraneh Abarin
A total of 1,263 adults from Newfoundland and Labrador were studied in the research. Body mass index (BMI) and percent trunk fat (PTF) were analyzed as biomarkers for obesity. The Mendelian randomization (MR) approach with two single-nucleotide polymorphisms in the fat-mass and obesity (FTO) gene as instruments was employed to assess the causal effect. In both genders, increasing physical activity significantly reduced BMI and PTF when adjusted for age and the FTO gene. The effect of physical activity was stronger on PTF than BMI...
2016: Genetics & Epigenetics
Daniel Amoako-Sakyi, Selorme Adukpo, Kwadwo A Kusi, Daniel Dodoo, Michael F Ofori, George O Adjei, Dominic E Edoh, Richard H Asmah, Charles Brown, Bright Adu, Dorcas Obiri-Yeboah, Godfred Futagbi, Sharif Buari Abubakari, Marita Troye-Blomberg, Bartholomew D Akanmori, Bamenla Q Goka, John Arko-Mensah, Ben A Gyan
Malaria pathogenesis may be influenced by IgE responses and cytokine cross-regulation. Several mutations in the IL-4/STAT6 signaling pathway can alter cytokine cross-regulation and IgE responses during a Plasmodium falciparum malarial infection. This study investigated the relationship between a STAT6 intronic single-nucleotide polymorphism (rs3024974), total IgE, cytokines, and malaria severity in 238 Ghanaian children aged between 0.5 and 13 years. Total IgE and cytokine levels were measured by ELISA, while genotyping was done by polymerase chain reaction-restriction fragment length polymorphism (RFLP)...
2016: Genetics & Epigenetics
Hanna Glatthaar, Judith Katto, Thomas Vogt, Ulrich Mahlknecht
The incidence of malignant melanoma in the developed world is continuously increasing. We conducted a case-control study in order to evaluate the association between each of the four estrogen receptor alpha polymorphisms (ESR1 single-nucleotide polymorphisms [SNPs] +2464C/T, -4576A/C, +1619A/G, and +6362C/T) and malignant melanoma susceptibility and disease course. The study population consisted of 205 Caucasian patients who were diagnosed as having malignant melanoma and 208 healthy Caucasian controls. Through DNA genotyping, we identified a SNP-dependent malignant melanoma susceptibility as well as a SNP-dependent effect on the course of disease and response to therapy...
2016: Genetics & Epigenetics
Monica Evangelista, Mariama El Baroudi, Milena Rizzo, Andrea Tuccoli, Laura Poliseno, Marco Pellegrini, Giuseppe Rainaldi
In this study, we report that immortal mouse embryonic fibroblasts (I-MEFs) have a baseline level of cells positive for alkaline phosphatase (AP(+)) staining. Environmental stresses, including long-lasting growth in the absence of expansion and treatment with drugs, enhance the frequency of AP(+) I-MEFs. By adapting fast red AP staining to the sorting procedure, we separated AP(+) and AP(-) I-MEFs and demonstrated that the differentially expressed genes are consistent with a reprogrammed phenotype. In particular, we found that sestrin 1 is upregulated in AP(+) I-MEFs...
2015: Genetics & Epigenetics
Kazushi Inoue, Elizabeth A Fry
Breast cancer (BC) is the most common cause of cancer-related death among women under the age of 50 years. Established biomarkers, such as hormone receptors (estrogen receptor [ER]/progesterone receptor) and human epidermal growth factor receptor 2 (HER2), play significant roles in the selection of patients for endocrine and trastuzumab therapies. However, the initial treatment response is often followed by tumor relapse with intrinsic resistance to the first-line therapy, so it has been expected to identify novel molecular markers to improve the survival and quality of life of patients...
2015: Genetics & Epigenetics
Erin Garrigan, Nicole S Belkin, Federica Seydel, Zhao Han, Jamal Carter, Marcia McDuffie, Laurence Morel, Ammon B Peck, Michael J Clare-Salzler, Mark Atkinson, Clive Wasserfall, Abdoreza Davoodi-Semiromi, Jing-da Shi, Carrie Haskell-Luevano, Li-Jun Yang, John J Alexander, Autumn Cdebaca, Teresa Piliant, Corin Riggs, Matthew Amick, Sally A Litherland
In Type 1 diabetic (T1D) human monocytes, STAT5 aberrantly binds to epigenetic regulatory sites of two proinflammatory genes, CSF2 (encoding granulocyte-macrophage colony-stimulating factor) and PTGS2 (encoding prostaglandin synthase 2/cyclooxygenase 2). Bicongenic B6.NOD C11bxC1tb mice re-create this phenotype of T1D monocytes with only two nonobese diabetic (NOD) Idd subloci (130.8 Mb-149.7 Mb, of Idd5 on Chr 1 and 32.08-53.85 Mb of Idd4.3 on Chr11) on C57BL/6 genetic background. These two Idd loci interact through STAT5 binding at upstream regulatory regions affecting Csf2 (Chr 11) and Ptgs2 (Chr 1) expression...
2015: Genetics & Epigenetics
Korkut Ulucan, Canan Sercan, Türker Biyikli
Angiotensin-1 converting enzyme (ACE) gene and α-actinin-3 (ACTN3) gene polymorphisms are considered to be the most important candidate genes for genetic predisposition to human athletic performance. In the present study, we aimed to analyze the distribution of ACE and ACTN3 polymorphisms for the first time in male Turkish soccer players. In this prospective study, our cohort consisted of 25 professional players, all with Turkish ancestry. Polymerase chain reaction (PCR)-restriction length polymorphism was used for the characterization of the genotype of ACTN3 and single PCR for ACE...
2015: Genetics & Epigenetics
Adriana C Vidal, Sara E Benjamin Neelon, Ying Liu, Abbas M Tuli, Bernard F Fuemmeler, Cathrine Hoyo, Amy P Murtha, Zhiqing Huang, Joellen Schildkraut, Francine Overcash, Joanne Kurtzberg, Randy L Jirtle, Edwin S Iversen, Susan K Murphy
In infants exposed to maternal stress in utero, phenotypic plasticity through epigenetic events may mechanistically explain increased risk of preterm birth (PTB), which confers increased risk for neurodevelopmental disorders, cardiovascular disease, and cancers in adulthood. We examined associations between prenatal maternal stress and PTB, evaluating the role of DNA methylation at imprint regulatory regions. We enrolled women from prenatal clinics in Durham, NC. Stress was measured in 537 women at 12 weeks of gestation using the Perceived Stress Scale...
2014: Genetics & Epigenetics
Guillermo Valencia Pacheco, Darig Cámara Cruz, Lizbeth J González Herrera, Gerardo J Pérez Mendoza, Guadalupe I Adrián Amaro, Yumi E Nakazawa Ueji, Angélica V Angulo Ramírez
Systemic lupus erythematosus (SLE) is a systemic autoimmune disease characterized by the production of autoantibodies against self-antigens, which occurs most often in women between 15 and 40 years of age. The innate immunity is involved in the pathogenesis of SLE through TLR- 7. Genetic factors such as copy number variation (CNV) of target genes may contribute to disease development, but this possible risk has not yet been studied in SLE patients from Yucatan, Mexico. The CNV of TLR-7 gene was determined by quantitative polymerase chain reaction assay using TaqMan probes in 80 SLE women and 150 control subjects...
2014: Genetics & Epigenetics
Anthony Payne, Farrell Cahill, Guang Sun, J Concepción Loredo-Osti, Taraneh Abarin
OBJECTIVE: To explore the effect of FTO gene and physical activity interaction on trunk fat percentage. DESIGN AND METHODS: Subjects are 3,004 individuals from Newfoundland and Labrador whose trunk fat percentage and physical activity were recorded, and who were genotyped for 11 single-nucleotide polymorphisms (SNPs) in the FTO gene. Subjects were stratified by gender. Multiple tests and multiple regressions were used to analyze the effects of physical activity, variants of FTO, age, and their interactions on trunk fat percentage...
2014: Genetics & Epigenetics
Sarah Heerboth, Karolina Lapinska, Nicole Snyder, Meghan Leary, Sarah Rollinson, Sibaji Sarkar
Epigenetic changes such as DNA methylation and histone methylation and acetylation alter gene expression at the level of transcription by upregulating, downregulating, or silencing genes completely. Dysregulation of epigenetic events can be pathological, leading to cardiovascular disease, neurological disorders, metabolic disorders, and cancer development. Therefore, identifying drugs that inhibit these epigenetic changes are of great clinical interest. In this review, we summarize the epigenetic events associated with different disorders and diseases including cardiovascular, neurological, and metabolic disorders, and cancer...
2014: Genetics & Epigenetics
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