Article
Biochemistry & Molecular Biology
Gabriela Filipowicz, Anna Wajda, Barbara Stypinska, Tomasz Kmiolek, Anna Felis-Giemza, Sandra Stanczyk, Zenobia Czuszynska, Marcela Walczyk, Marzena Olesinska, Agnieszka Paradowska-Gorycka
Summary: Mixed connective tissue disease (MCTD) is a rare disorder with unclear pathogenesis. This study analyzed whole blood samples from MCTD, SSc, SLE patients, and healthy donors, and found that hypomethylation distinguishes MCTD patients from SSc and SLE patients. However, global DNA methylation may not be a good diagnostic marker to distinguish MCTD from other ACTDs patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biology
Oliver Kaut, Ina Schmitt, Fabian Stahl, Holger Froehlich, Per Hoffmann, Frank J. Gonzalez, Ullrich Wuellner
Summary: This study identified a small number of dysmethylated genes in the brains of Parkinson's disease patients, including the hypomethylation of CYP2E1, which was associated with increased protein levels. Furthermore, a group of genes associated with oxidative stress showed brain-specific changes.
Article
Biology
Mansour A. Alghamdi, Laith N. AL-Eitan, Amneh H. Tarkhan, Firas A. Al-Qarqaz
Summary: The study revealed that HPV-induced warts lead to significant and unique epigenetic alterations to the host genome, with distinct patterns of methylation differences.
SAUDI JOURNAL OF BIOLOGICAL SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Zac Chatterton, Praves Lamichhane, Diba Ahmadi Rastegar, Lauren Fitzpatrick, Helene Lebhar, Christopher Marquis, Glenda Halliday, John B. Kwok
Summary: This study presents a single-cell DNA methylation sequencing method that can accurately resolve the DNA methylation profiles of individual cells. The sciEM method improves sequencing alignment rates, reduces adapter contamination, and over-estimation of DNA methylation levels. The researchers successfully applied this method to resolve single-cell DNA methylation of major cell types in the human brain.
CELL AND BIOSCIENCE
(2023)
Article
Pharmacology & Pharmacy
Akiyoshi Saitoh, Yoshifumi Nagayama, Daisuke Yamada, Kosho Makino, Toshinori Yoshioka, Nanami Yamanaka, Momoka Nakatani, Yoshino Takahashi, Mayuna Yamazaki, Chihiro Shigemoto, Misaki Ohashi, Kotaro Okano, Tomoki Omata, Etsuko Toda, Yoshitake Sano, Hideyo Takahashi, Kouji Matsushima, Yuya Terashima
Summary: This study found that Disulfiram produces anxiolytic-like effects in rodents by inhibiting the presynaptic inhibitory effects on glutaminergic neurons. Unlike diazepam, Disulfiram does not have adverse effects and may be an effective novel anxiolytic drug.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Neurosciences
Ze Zhang, John K. Wiencke, Karl T. Kelsey, Devin C. Koestler, Annette M. Molinaro, Steven C. Pike, Prasoona Karra, Brock C. Christensen, Lucas A. Salas
Summary: Studying the composition of brain cells and their association with neurological conditions is important for understanding brain-related pathophysiology and neuroscience. A DNA methylation-based deconvolution method can be used to identify different types of brain cells. Our study demonstrates the potential utility of this method in normal and diseased brain tissues, including Alzheimer's disease, autism, Huntington's disease, epilepsy, and schizophrenia. This method can accelerate the understanding of cellular composition and cell-type-specific epigenetic states in normal and diseased brain tissues.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Neurosciences
Jing Wei, Jia Cheng, Nicholas J. Waddell, Zi-Jun Wang, Xiaodong Pang, Qing Cao, Aiyi Liu, Javed M. Chitaman, Kristen Abreu, Rahul Singh Jasrotia, Lara J. Duffney, Jinfeng Zhang, David M. Dietz, Jian Feng, Zhen Yan
Summary: Recent evidence indicates that chronic stress can lead to aberrant gene transcription through epigenetic mechanisms involving DNA methylation and DNMTs. Specifically, stress-induced reduction of Dnmt3a in the prefrontal cortex may contribute to synaptic dysfunction and behavioral abnormalities, affecting pathways related to glutamatergic synapse and cognitive-emotional processes.
Review
Nutrition & Dietetics
Joseph Allison, Aleksandra Kaliszewska, Sara Uceda, Manuel Reiriz, Natalia Arias
Summary: Metabolism and nutrition play a significant role in epigenetic modifications, such as DNA methylation, which can influence gene expression. Recently, it has been suggested that bioactive nutrients and gut microbiota can alter DNA methylation in the central nervous system (CNS) through the gut-brain axis, affecting CNS functions and behavior. This study focuses on how metabolic signals shape brain DNA methylation in adulthood and explores interactions among diet, gut microbiota, and epigenetic alterations on brain methylation and behavior.
Article
Biochemical Research Methods
Wubin Ding, Diljeet Kaur, Steve Horvath, Wanding Zhou
Summary: Researchers have developed informatics infrastructure and methods for DNA methylation analysis in multiple species, including domesticated animals and laboratory mice. They have created a data-driven analysis pipeline for species inference, genome-specific data preprocessing, and regression modeling. Comparative analysis has revealed the dynamics of epigenome evolution in different genomic territories and tissue types, and specific methylation differences related to mouse strain phenotypes have been identified. These methods expand epigenome research to a wide range of species by streamlining DNA methylation array analysis for undesigned genomes.
BRIEFINGS IN BIOINFORMATICS
(2023)
Article
Psychiatry
Eric Poisel, Lea Zillich, Fabian Streit, Josef Frank, Marion M. Friske, Jerome C. Foo, Naguib Mechawar, Gustavo Turecki, Anita C. Hansson, Markus M. Noethen, Marcella Rietschel, Rainer Spanagel, Stephanie H. Witt
Summary: This study investigates epigenome-wide DNA methylation signatures in the human brain tissue of individuals with cocaine use disorder (CUD). The results show differential methylation associated with neurotransmission and neuroplasticity in CUD, supporting the impact of cocaine on brain circuits. Further research integrating epigenetic signatures with transcriptomic and proteomic data is needed.
FRONTIERS IN PSYCHIATRY
(2023)
Article
Biology
Junhao Li, Antonio Pinto-Duarte, Mark Zander, Michael S. Cuoco, Chi-Yu Lai, Julia Osteen, Linjing Fang, Chongyuan Luo, Jacinta D. Lucero, Rosa Gomez-Castanon, Joseph R. Nery, Isai Silva-Garcia, Yan Pang, Terrence J. Sejnowski, Susan B. Powell, Joseph R. Ecker, Eran A. Mukamel, M. Margarita Behrens
Summary: Two epigenetic pathways, DNA methylation and PRC2, play important roles in neuronal development. This study found that loss of Dnmt3a affects synapse-related gene expression, impairs synapse maturation, and leads to working memory and social interest deficits. Genomic analysis revealed an unmethylated epigenomic pattern resembling fetal neurons in adult neurons upon loss of Dnmt3a.
Review
Biochemistry & Molecular Biology
Eshaan Patnaik, Chikezie Madu, Yi Lu
Summary: Epigenetics plays a crucial role in gene regulation and tumor development. DNA methylation inhibitors and histone deacetylase inhibitors can restore normal gene expression and be effective against cancer. Understanding epigenetic modifications and utilizing inhibitors offer new possibilities for cancer research.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Biochemistry & Molecular Biology
Simeon Santourlidis, Wolfgang A. Schulz, Marcos J. Arauzo-Bravo, Daniela Gerovska, Pauline Ott, Marcelo L. Bendhack, Mohamed Hassan, Lars Erichsen
Summary: Epigenetic mechanisms play a fundamental role in the initiation and development of melanoma, but research in this area is relatively limited compared to other cancers. This review provides a brief summary of the epigenetic aspects relevant to melanoma pathogenesis and introduces new perspectives from epigenetic research in other cancers that may have potential for melanoma diagnosis and therapy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Environmental Sciences
Maja Srut
Summary: The effect of environmental pollutants on epigenetic changes, including DNA methylation, histone modifications, and non-coding RNAs, is a major concern in ecotoxicology. Earthworms have been widely used as models to study the impact of environmental stress on epigenetic mechanisms and to explore the possibility of epigenetic inheritance. However, there are still many knowledge gaps that need to be filled in.
Article
Endocrinology & Metabolism
Matthew Devall, Darren M. Soanes, Adam R. Smith, Emma L. Dempster, Rebecca G. Smith, Joe Burrage, Artemis Iatrou, Eilis Hannon, Claire Troakes, Karen Moore, Paul O'Neill, Safa Al-Sarraj, Leonard Schalkwyk, Jonathan Mill, Michael Weedon, Katie Lunnon
Summary: This study presents a novel approach to investigate the patterns of mitochondrial DNA methylation in human brain tissue. The results show relatively low but conserved patterns of mitochondrial DNA methylation, with peaks observed in the D-LOOP and several genes in a non-CpG context. Differential methylation patterns associated with age, sex, and brain region were also identified. This study provides detailed annotation of DNA methylation in the mitochondrial genome and highlights the potential role of mitochondrial epigenetic mechanisms in disorders characterized by mitochondrial dysfunction.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Genetics & Heredity
Lisa Johnson, Ann M. Manzardo, Jennifer L. Miller, Daniel J. Driscoll, Merlin G. Butler
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2016)
Article
Genetics & Heredity
Merlin G. Butler, Austen B. McGuire, Humaira Masoud, Ann M. Manzardo
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
(2016)
Article
Genetics & Heredity
Gabriela L. Bravo, Albert B. Poje, Iago Perissinotti, Bianca F. Marcondes, Mauricio F. Villamar, Ann M. Manzardo, Laura Luque, Jean F. LePage, Diane Stafford, Felipe Fregni, Merlin G. Butler
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
(2016)
Article
Genetics & Heredity
Ann M. Manzardo, Lisa Johnson, Jennifer L. Miller, Daniel J. Driscoll, Merlin G. Butler
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2016)
Article
Genetics & Heredity
Ann M. Manzardo, Lisa Johnson, Jennifer L. Miller, Daniel J. Driscoll, Merlin G. Butler
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2016)
Article
Pediatrics
Merlin G. Butler, Jaehoon Lee, Devin M. Cox, Ann M. Manzardo, June-Anne Gold, Jennifer L. Miller, Elizabeth Roof, Elisabeth Dykens, Virginia Kimonis, Daniel J. Driscoll
CLINICAL PEDIATRICS
(2016)
Article
Cell Biology
Vy Dang, Abhilasha Surampalli, Ann M. Manzardo, Stephanie Youn, Merlin G. Butler, June-Anne Gold, Virginia E. Kimonis
CYTOGENETIC AND GENOME RESEARCH
(2016)
Article
Biochemistry & Molecular Biology
Naveen S. Khanzada, Merlin G. Butler, Ann M. Manzardo
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2017)
Article
Genetics & Heredity
A. M. Manzardo, N. Weisensel, S. Ayala, W. Hossain, M. G. Butler
Article
Biochemistry & Molecular Biology
Alexander P. Gabrielli, Ann M. Manzardo, Merlin G. Butler
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2019)
Article
Genetics & Heredity
Ann M. Manzardo, Janalee Heinemann, Barbara McManus, Carolyn Loker, James Loker, Merlin G. Butler
Article
Genetics & Heredity
Merlin G. Butler, Aderonke Oyetunji, Ann M. Manzardo
Article
Neurosciences
Albert B. Poje, Ann Manzardo, Kathleen M. Gustafson, Ke Liao, Laura E. Martin, Merlin G. Butler
Summary: The study shows positive effects of tDCS on cognitive and behavioral processes in PWS patients, particularly in Go/NoGo task performance and brain wave amplitude. Patients with different genetic subtypes show baseline differences in N2 amplitude, but a decrease after tDCS, with a trend towards decreased response time.
Article
Biochemistry & Molecular Biology
Ann M. Manzardo, Albert B. Poje, Elizabeth C. Penick, Merlin G. Butler
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2016)
Article
Pediatrics
Merlin G. Butler, Ann M. Manzardo, Janice L. Forster
CURRENT PEDIATRIC REVIEWS
(2016)
Article
Genetics & Heredity
Xiangge Meng, Chengping Li, Yu Hei, Xiang Zhou, Guoli Zhou
Summary: The study used IVT-SAPAS sequencing to analyze the dynamic changes of APA sites during adipogenesis in bovine subcutaneous preadipocytes and intramuscular preadipocytes. The results showed that APA plays an important role in adipocyte differentiation, and UTR-APA switching genes have different trends, with intramuscular preadipocytes tending to use shorter 3'UTR for differentiation. TRIB3, WWTR1, and INSIG1 play important roles in intramuscular preadipocyte differentiation.
Article
Genetics & Heredity
S. Alizadeh, S. Khamse, N. Tajeddin, H. R. Khorram Khorshid, A. Delbari, M. Ohadi
Summary: This study identifies a specific genotype at a CG-rich trinucleotide short tandem repeat (STR) locus that is associated with late-onset neurocognitive disorders such as Alzheimer's disease (AD).
Article
Genetics & Heredity
Shougang Liu, Zhe Zhuang, Fanghua Liu, Xiuqing Yuan, Zeqiao Zhang, Xiaoqian Liang, Xinhui Li, Yongfeng Chen
Summary: This study investigated the effect and mechanism of RPL9 and TIFA in scalp psoriasis, and identified RPL9 as a potential therapeutic target for scalp psoriasis.
Article
Genetics & Heredity
Shiting Wang, Jiaqi Chen, Zhichao Jin, Ying Xing, Ruiping Wang
Summary: This study suggests a causal association between hair color and skin cancers, with light hair colors (red, blonde, and light brown) being associated with an increased risk and dark brown hair being associated with a decreased risk.
Article
Genetics & Heredity
Joseph Hawadak, Loick Pradel Kojom Foko, Rodrigue Roman Dongang Nana, Karmveer Yadav, Veena Pande, Aparup Das, Vineeta Singh
Summary: This study investigates the genetic diversity and natural selection of the Pfama-1 gene in Plasmodium falciparum isolates from Cameroon. The study finds a considerable nucleotide and haplotype diversity, as well as specific mutations in Cameroonian isolates. Positive diversifying selection and the identification of selected codon sites suggest the potential implication of these genetic variations in host immune pressure and parasite-binding complex modulation. The findings provide valuable baseline data for malaria vaccine design.
Article
Genetics & Heredity
Emily Biernat, Mansi Verma, Chhabi K. Govind
Summary: RSC is an essential ATP-dependent chromatin remodeling complex in Saccharomyces cerevisiae. It regulates nucleosome-depleted regions (NDRs) by sliding flanking nucleosomes away from NDRs. Depletion of RSC leads to nucleosome encroachment in NDRs and transcription initiation defects. The study compared the effects of catalytic-dead Sth1 and rapid depletion of Sth1 on transcription. Rapid depletion of Sth1 reduces recruitment of TBP and Pol II, while the catalytic-dead mutant exhibits a severe reduction in TBP binding but accumulates Pol II in coding regions. The results suggest a role for RSC in transcription elongation and termination processes.
Article
Genetics & Heredity
Yunxiao Wei, Yuhan Song, Muhammad Aamir Khan, Chengzhen Liang, Zhigang Meng, Yuan Wang, Sandui Guo, Rui Zhang
Summary: This study analyzed the GhTPP protein family in upland cotton for the first time and identified the important role of GhTPPA_2 in regulating sugar metabolism, improving soluble sugar accumulation, and drought stress tolerance.
Article
Genetics & Heredity
Yannan Geng, Rui Shao, Tiantong Xu, Lilong Zhang
Summary: A novel risk model based on SCUBE3, TNNC1, SPON1, SEPT12 and ULBP1 genes was developed for predicting PMOP risk, with higher risk score indicating higher risk of suffering from PMOP. Significant differences in signaling pathway activities were observed between the high-risk score group and the low-risk score group.
Article
Genetics & Heredity
Randy P. Williams, Corina Lesseur, Haoxiang Cheng, Qian Li, Maya Deyssenroth, Christopher D. Molteno, Ernesta M. Meintjes, Sandra W. Jacobson, Joseph L. Jacobson, Helen Wainwright, Ke Hao, Jia Chen, R. Colin Carter
Summary: The study suggests that heavy alcohol exposure during pregnancy may impact the proportion of fetal placental villi macrophages and increase the expression of inflammatory genes. Further research is needed to explore these effects and evaluate the potential functional roles of placental inflammation in FASD.
Article
Genetics & Heredity
Lvjing Luo, Lishuang Sun, Shu Li, Huiting Liu, Zhengyu Chen, Shi Huang, Yinyin Mo, Genliang Li
Summary: This study analyzed the expression of Ptpn1 and miR-124-3p in testicular tissues of mice and investigated their regulatory relationship. The results showed that Ptpn1 expression was up-regulated in adult mouse testis compared to juvenile mouse testis, while miR-124-3p expression showed an opposite pattern. Further analysis suggested that the down-regulation of miR-124-3p may contribute to the high expression of Ptpn1 in adult mouse testis.
Article
Genetics & Heredity
Gairui Li, Dan Zhao, Xiaolin Peng, Yashuang Zhao
Summary: MiRNA-22 shows potential as a candidate for early diagnosis of colorectal cancer (CRC). The study found higher miR-22 expression levels in the CRC and CRA groups, suggesting its potential as a biomarker for CRC early screening.
Article
Genetics & Heredity
Zhongqiu Zhu, Qianting Yang, Xiaoying Tian, Da Man, Jian Wang, Junfang Zhang, Bingshe Han
Summary: This study constructed a ceRNA network mediated by lncRNAs in cold-acclimated zebrafish ZF4 cells and revealed that upregulation of MSTRG3207 promotes apoptosis by sponging dre-miR-736 during cold acclimation.
Article
Genetics & Heredity
Weitao Chen, Denggao Xiang, Shang Gao, Shuli Zhu, Zhi Wu, Yuefei Li, Jie Li
Summary: Dam construction has negatively impacted the genetic diversity and structure of fish populations. This case study on the endangered Hemibagrus guttatus found low genetic diversity, high levels of inbreeding, and decreasing population size in fragmented populations. Genetic structure and differentiation were also observed, indicating the influence of dams on these fish populations.
Article
Genetics & Heredity
Pooja Singh, Debleena Guin, Bijay Pattnaik, Ritushree Kukreti
Summary: Through systematic literature review and meta-analysis, it was found that idiopathic pulmonary fibrosis is significantly associated with 222 polymorphisms in 118 genes. Four polymorphisms - rs35705950/MUC5B, rs2736100/TERT, rs2076295/DSP, and rs111521887/TOLLIP, exhibited substantial epidemiological evidence supporting their association with IPF risk.
Article
Genetics & Heredity
Jianping Zhang, Zhijun Cai, Fanzhe Feng, Yufeng Peng, Yi Cui, Yongiqing Xu
Summary: This study found that exosomes secreted by young BMSCs can promote the healing of tendon-bone interface after rotator cuff tears. These exosomes can improve extracellular matrix remodeling, osteogenic differentiation, angiogenesis, and stemness of tendon-derived stem cells (TDSCs). The exosomes from young BMSCs have better effects compared to those from aged BMSCs.