Article
Cell Biology
Teruhito Ishihara, Oliver W. Griffith, Shunsuke Suzuki, Marilyn B. Renfree
Summary: This study reveals that the active histone-3 lysine-4 trimethylation (H3K4me3) marks in the paternal genome remain present in sperm and embryos, playing a role in the regulation of parent-of-origin-specific gene expression from early zygotic stages to implantation.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Cell Biology
Junliang Li, Dawei Yu, Jing Wang, Chongyang Li, Qingwei Wang, Weihua Du, Shanjiang Zhao, Yunwei Pang, Haisheng Hao, Xueming Zhao, Huabin Zhu, Shijie Li, Huiying Zou
Summary: This study investigates the imprinting status and methylation regulation of the DLK1-DIO3 region in wild-type and cloned neonatal pigs. The results reveal the abnormal imprinting and hypermethylation in the DLK1-DIO3 region in cloned pigs, providing a theoretical basis for improving cloning efficiency by gene editing to correct abnormal imprinting.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Genetics & Heredity
Alana C. Jones, Amit Patki, Steven A. Claas, Hemant K. Tiwari, Ninad S. Chaudhary, Devin M. Absher, Leslie A. Lange, Ethan M. Lange, Wei Zhao, Scott M. Ratliff, Sharon L. R. Kardia, Jennifer A. Smith, Marguerite R. Irvin, Donna K. Arnett
Summary: Left ventricular hypertrophy (LVH) is an independent risk factor for cardiovascular disease, and African Americans have a higher risk of LVH. This study used methylation and echocardiography data to identify differentially methylated regions (DMRs) associated with LVH in African Americans. The results suggest potential candidate genes and variants related to LVH and highlight the importance of DNA methylation patterns in the development of LVH.
Review
Cell Biology
Courtney W. Hanna, Gavin Kelsey
Summary: Genomic imprinting refers to the monoallelic expression of a gene based on parent of origin, which is a result of differential epigenetic marking between male and female germlines. Apart from the canonical DNA methylation-mediated imprinting, there is also non-canonical imprinting caused by maternal H3K27me3-independent of DNA methylation. Conservation of canonical and noncanonical genomic imprinting and the role of endogenous retroviral elements are discussed in this review.
GENES & DEVELOPMENT
(2021)
Article
Agriculture, Dairy & Animal Science
Junliang Li, Weina Chen, Dongjie Li, Shukai Gu, Xiaoqian Liu, Yanqiu Dong, Lanjie Jin, Cui Zhang, Shijie Li
Summary: Genomic imprinting plays a crucial role in mammalian development, with specific genes being paternally or maternally expressed based on DNA methylation. Comparing imprinted genes across species can provide insights into the biological significance and regulatory mechanisms of genomic imprinting. MKRN3, MAGEL2, and NDN are paternally imprinted genes identified in the human PWS/AS locus, and their expression in bovine tissues suggests conserved monoallelic expression patterns between species.
Article
Cell Biology
Shaili Regmi, Lana Giha, Ahado Ali, Christine Siebels-Lindquist, Tamara L. L. Davis
Summary: Differential methylation of imprinting control regions is essential for parental allele distinction and regulation of gene expression. DNA methyltransferase 1 plays a crucial role in maintaining the inherited methylation patterns, but little is known about how imprinting control regions direct the acquisition and maintenance of methylation at secondary sites. Recent analysis suggests that DNA methyltransferase 1 may function differently at different loci, and our study shows that it specifically maintains methylation at imprinting control regions but not at corresponding secondary differentially methylated regions.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Ecology
Marco Gerdol, Claudia La Vecchia, Maria Strazzullo, Pasquale De Luca, Stefania Gorbi, Francesco Regoli, Alberto Pallavicini, Enrico D'Aniello
Summary: DNA methylation is a crucial epigenetic mechanism that regulates gene expression in all organisms. In metazoans, the pattern of DNA methylation changes during embryogenesis and adulthood, leading to the development of a stable and unique methylation pattern in differentiated cells. The study sheds light on DNA methylation regulators in Mytilus galloprovincialis, providing insights into the role of this mechanism in bivalve genome regulation.
FRONTIERS IN ECOLOGY AND EVOLUTION
(2021)
Article
Endocrinology & Metabolism
Patrick Hanna, Bruno Francou, Brigitte Delemer, Harald Juppner, Agnes Linglart
Summary: Pseudohypoparathyroidism type 1B (PHP1B) is characterized by proximal renal tubular resistance to parathyroid hormone (PTH), leading to hypocalcemia. This study aimed to characterize a previously unreported case of autosomal dominant PHP1B with loss of methylation at GNAS A/B:TSS-DMR.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Review
Biochemistry & Molecular Biology
Francesca Lucibelli, Maria Carmen Valoroso, Serena Aceto
Summary: DNA methylation is an epigenetic modification that regulates gene expression and chromatin structure in plant genomes. It plays a crucial role in plant development and evolution, as well as in plant responses to biotic and abiotic stress. Furthermore, DNA methylation has potential evolutionary implications and biotechnological applications.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Endocrinology & Metabolism
Patrick Hanna, Bruno Francou, Brigitte Delemer, Harald Jueppner, Agnes Linglart
Summary: The study characterized a previously unreported AD-PHP1B family with loss of methylation at GNAS A/B:TSS-DMR, but without evidence for a STX16 deletion on the maternal allele. The research identified distinct methylation changes at the novel GNAS-AS2:TSS-DMR, which may help further characterize different PHP1B/iPPSD3 variants and guide the search for underlying genetic defects.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
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)
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)
Article
Genetics & Heredity
Zhuoyao Ma, Yingjin Wang, Yanmei Quan, Zhijie Wang, Yue Liu, Zhide Ding
Summary: Decreased methylation levels in overweight/obese women may lead to increased gene expression activity in fetuses, which may be associated with increased risk of metabolic disorders, cancers, and cardiomyopathy in their offspring.
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
Cell Biology
Ji Liao, Tie-Bo Zeng, Nicholas Pierce, Diana A. Tran, Purnima Singh, Jeffrey R. Mann, Piroska E. Szabo
Summary: BWS and SRS are imprinting disorders related to misexpression of IGF2, and prenatal diagnosis and intervention targeting IGF2 can prevent these conditions. Studies using mouse models demonstrate that normalizing IGF2 levels can correct fetal overgrowth and growth retardation.
Article
Genetics & Heredity
Tie-Bo Zeng, Nicholas Pierce, Ji Liao, Piroska E. Szabo
Summary: The study revealed that EHMT2 plays a crucial role in repressing the maternal allele in noncanonical imprinting, particularly related to the derepression of ERVK promoters. Loss of DNA methylation in Ehmt2(-/-) embryos was associated with biallelic derepression of ERVK promoters.
Article
Genetics & Heredity
Tie-Bo Zeng, Nicholas Pierce, Ji Liao, Purnima Singh, Kin Lau, Wanding Zhou, Piroska E. Szabo
Summary: EHMT2 plays a regulatory role in suppressing transcriptional and developmental variation during the transition between gastrulation and organ specification in embryos, particularly at the six-somite stage.
Article
Pediatrics
Wendy Landier, Smita Bhatia, F. Lennie Wong, Jocelyn M. York, Jessica S. Flynn, Harrison M. Henneberg, Purnima Singh, Kandice Adams, Karen Wasilewski-Masker, Brooke Cherven, Rama Jasty-Rao, Marcia Leonard, James A. Connelly, Saro H. Armenian, Leslie L. Robison, Anna R. Giuliano, Melissa M. Hudson, James L. Klosky
Summary: This study aimed to evaluate the immunogenicity and safety of HPV vaccine in young cancer survivors. The results showed that the three-dose series of HPV vaccine had similar immunogenicity and safety in cancer survivors compared to the general population, providing evidence for its use in this vulnerable population.
LANCET CHILD & ADOLESCENT HEALTH
(2022)
Article
Biophysics
Noha Sharafeldin, Jianqing Zhang, Purnima Singh, Alysia Bosworth, Yanjun Chen, Sunita K. Patel, Xuexia Wang, Liton Francisco, Stephen J. Forman, F. Lennie Wong, Akinyemi Ojesina, Smita Bhatia
Summary: The study suggests that genome-wide significant SNPs may be associated with cognitive impairment in BMT recipients. The construction of a weighted genome-wide polygenic risk score allows for the prediction of cognitive impairment risk.
BONE MARROW TRANSPLANTATION
(2022)
Article
Cell Biology
Yingying Meng, Guliang Wang, Hongjuan He, Kin H. Lau, Allison Hurt, Brianna J. Bixler, Andrea Parham, Seung-Gi Jin, Xingzhi Xu, Karen M. Vasquez, Gerd P. Pfeifer, Piroska E. Szabo
Summary: A biological process that erases Z-DNA specifically in germ cells of the mouse male foetus has been discovered, which is mediated by a previously uncharacterized zinc finger protein, ZBTB43. This process prevents DNA double-strand breaks and promotes de novo DNA methylation, ensuring genomic and epigenomic integrity.
NATURE CELL BIOLOGY
(2022)
Article
Multidisciplinary Sciences
Seung-Gi Jin, Yingying Meng, Jennifer Johnson, Piroska E. Szabo, Gerd P. Pfeifer
Summary: This study provides detailed analysis of two types of oxidative DNA damage and its association with inflammation and cancer. The results show that the occurrence of oxidized guanines and oxidized thymines is dependent on specific DNA sequences and may lead to cancer-related mutations.
Article
Oncology
Xuexia Wang, Purnima Singh, Liting Zhou, Noha Sharafeldin, Wendy Landier, Lindsey Hageman, Paul Burridge, Yutaka Yasui, Yadav Sapkota, Javier G. G. Blanco, Kevin C. C. Oeffinger, Melissa M. M. Hudson, Eric J. J. Chow, Saro H. H. Armenian, Joseph P. P. Neglia, A. Kim Ritchey, Douglas S. S. Hawkins, Jill P. P. Ginsberg, Leslie L. L. Robison, Gregory T. T. Armstrong, Smita Bhatia
Summary: This study identified genetic variants associated with anthracycline-related cardiomyopathy using two independent study cohorts. Two single-nucleotide polymorphisms (SNPs), rs17736312 (ROBO2) and rs113230990 (near a CCCTC-binding factor insulator), showed significant gene-environment interaction effect on anthracycline-related cardiomyopathy in the discovery cohort and rs17736312 was successfully replicated in the replication cohort. The study also identified gene-gene interaction and independent effects of TGF-beta 1 and ROBO2 on heart failure.
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Editorial Material
Genetics & Heredity
Gerd P. Pfeifer, Piroska E. Szabo
Article
Oncology
Purnima Singh, David K. Crossman, Liting Zhou, Xuexia Wang, Noha Sharafeldin, Lindsey Hageman, Javier G. Blanco, Paul W. Burridge, Saro H. Armenian, Frank M. Balis, Douglas S. Hawkins, Frank G. Keller, Melissa M. Hudson, Joseph P. Neglia, A. Kim Ritchey, Jill P. Ginsberg, Wendy Landier, Smita Bhatia
Summary: A novel association between the haptoglobin 2 (HP2) allele and cardiomyopathy was discovered. Higher expression of the HP gene is associated with an increased risk of developing cardiomyopathy. The binding of HP to free hemoglobin prevents oxidative damage, providing a mechanistic basis for this observation.
JACC: CARDIOONCOLOGY
(2023)
Article
Multidisciplinary Sciences
Purnima Singh, Liting Zhou, Disheet A. Shah, Romina B. Cejas, David K. Crossman, Mariam Jouni, Tarek Magdy, Xuexia Wang, Noha Sharafeldin, Lindsey Hageman, Donald E. McKenna, Steve Horvath, Saro H. Armenian, Frank M. Balis, Douglas S. Hawkins, Frank G. Keller, Melissa M. Hudson, Joseph P. Neglia, A. Kim Ritchey, Jill P. Ginsberg, Wendy Landier, Paul W. Burridge, Smita Bhatia
Summary: Investigation found an association between genome-wide differential methylation at CpG sites in peripheral blood DNA and anthracycline-induced cardiomyopathy. Several genes associated with cardiac dysfunction were also identified. This suggests that differential DNA methylation of certain genes could play a role in the pathogenesis of anthracycline-induced cardiomyopathy.
SCIENTIFIC REPORTS
(2023)
Article
Cardiac & Cardiovascular Systems
Purnima Singh, Disheet A. Shah, Mariam Jouni, Romina B. Cejas, David K. Crossman, Tarek Magdy, Shaowei Qiu, Xuexia Wang, Liting Zhou, Noha Sharafeldin, Lindsey Hageman, Donald E. McKenna, Saro H. Armenian, Frank M. Balis, Douglas S. Hawkins, Frank G. Keller, Melissa M. Hudson, Joseph P. Neglia, A. Kim Ritchey, Jill P. Ginsberg, Wendy Landier, Ravi Bhatia, Paul W. Burridge, Smita Bhatia
Summary: This study examined the differential blood-based mRNA expression profiles in anthracycline-exposed childhood cancer survivors with and without cardiomyopathy. The results revealed dysregulation of several genes, including LDHA, CD36, IL1R1, IL1R2, MMP8, and MMP9, that are associated with metabolic perturbations, structural remodeling, and symptomatic cardiotoxicity in these survivors.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Multidisciplinary Sciences
Ji Liao, Sangmin Song, Samuel Gusscott, Zhen Fu, Ivan Vanderkolk, Brianna M. Busscher, Kin H. Lau, Julie Brind Amour, Piroska E. Szabo
Summary: This study provides experimental evidence in mice that prospermatogonia-specific broad low-level transcription plays a crucial role in the establishment of paternal methylation imprint in the male germline.
