Article
Biology
Carol A. Edwards, William M. D. Watkinson, Stephanie B. Telerman, Lisa C. Hulsmann, Russell S. Hamilton, Anne C. Ferguson-Smith, Deborah Bourc'his
Summary: In mice and humans, imprinting genes play important roles in development, behavior, and post-natal adaptations. Failure to properly imprint genes in humans is associated with various disorders and diseases. Researchers have used RNA-seq technologies and hybrid mouse strains to identify novel imprinted genes, leading to an increase in reported genes with parental origin-specific expression bias. However, validation experiments show that many of these genes are not genuine imprinted genes and that the mouse strain has a greater influence on expression biases than parental origin.
Review
Developmental Biology
Jing Zhao, Wenjie Wang, Ling Zhang, Jia Zhang, Roger Sturmey, Jin Zhang
Summary: Early mammalian embryos exhibit dynamic metabolism to support changing cell fates during development. Metabolic pathways play crucial roles in cellular energetic demands, cell signalling, gene regulation, cell proliferation, and differentiation. Recent advances in metabolomics and computational analysis have deepened our understanding of the important role of dynamic metabolism in early mammalian embryogenesis.
Article
Cell Biology
Daniel Loftus, Bongmin Bae, Courtney M. Whilden, Amanda J. Whipple
Summary: Differences in chromatin state inherited from the parental gametes influence the regulation of maternal and paternal alleles in offspring. This study characterizes the mechanisms underlying brain-specific imprinted expression of the Peg13-Kcnk9 locus and demonstrates that chromatin state established in early development can promote imprinted expression upon differentiation.
GENES & DEVELOPMENT
(2023)
Article
Developmental Biology
Laura Thomas, Andrea Putnam, Andrew Folkmann
Summary: A characteristic of germ cells is the presence of germ granules, which are assemblies of proteins and RNA lacking a membrane and formed through condensation. Germ granules are conserved across organisms and developmental stages, and are believed to be involved in germ cell development. However, the molecular functions of germ granules are still not fully understood. In this Development at a Glance article, the authors survey germ granules in different organisms and developmental stages, highlighting emerging themes regarding granule regulation, dynamics, and proposed functions.
Article
Oncology
Sanaz Keyhan, Emily Burke, Rose Schrott, Zhiqing Huang, Carole Grenier, Thomas Price, Doug Raburn, David L. Corcoran, Adelheid Soubry, Catherine Hoyo, Susan K. Murphy
Summary: Male obesity is associated with altered sperm DNA methylation profiles that appear to affect reprogramming fidelity in a subset of sperm, suggestive of an influence on the spermatogonia. Further work is required to determine the potential heritability of these DNA methylation alterations. If heritable, these changes have the potential to impede normal development.
CLINICAL EPIGENETICS
(2021)
Review
Biochemistry & Molecular Biology
Flavio Di Michele, Isabel Chillon, Robert Feil
Summary: Imprinted genes have diverse roles in mammalian development, homeostasis, and disease. Most imprinted chromosomal domains express long non-coding RNAs (lncRNAs), which control the expression of protein-coding genes. The aberrant regulation of imprinted gene expression, including imprinted lncRNAs, can have long-lasting phenotypic consequences and is associated with human disease syndromes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Genetics & Heredity
Zahra Anvar, Imen Chakchouk, Hannah Demond, Momal Sharif, Gavin Kelsey, Ignatia B. Van den Veyver
Summary: Genomic imprinting is an epigenetic process affecting development, with multi-locus imprinting disturbances possibly leading to disorders. Pathogenic gene variants can cause rare embryonic and reproductive issues.
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)
Review
Endocrinology & Metabolism
Candela R. Gonzalez, Betina Gonzalez
Summary: Spermatogenesis is regulated by unique epigenetic programs, which can be influenced by paternal lifestyle stressors and affect the development and behavior of offspring. Understanding the impact of environmental perturbations on sperm epigenetics is crucial for unraveling the mechanisms of stress transmission between generations.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Review
Cell Biology
Hisato Kobayashi
Summary: Genomic imprinting is an epigenetic phenomenon that leads to unequal expression of homologous maternal and paternal alleles in the mouse genome. More than 260 imprinted genes have been identified, most of which are controlled by imprinted germline differentially methylated regions, while a subset of genes are controlled by maternal-derived histone modifications. Understanding DNA methylation-dependent and -independent imprints may provide new insights into genetic regulation and evolutionary divergence.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Cell Biology
Hisato Kobayashi
Summary: Genomic imprinting is an epigenetic phenomenon that results in unequal expression of homologous maternal and paternal alleles. This process can maintain parental epigenetic memories following fertilization and induce allele-specific transcription and chromatin modifications of neighboring genes.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Endocrinology & Metabolism
Bing Song, Yujie Chen, Chao Wang, Guanjian Li, Zhaolian Wei, Xiaojin He, Yunxia Cao
Summary: This study suggests that abnormal DNA methylation of certain CpG sites of imprinted genes is associated with poor sperm quality and severe sperm DNA damage.
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY
(2022)
Article
Genetics & Heredity
Bing Song, Chao Wang, Yujie Chen, Guanjian Li, Yang Gao, Fuxi Zhu, Huan Wu, Mingrong Lv, Ping Zhou, Zhaolian Wei, Xiaojin He, Yunxia Cao
Summary: The study found that DNA methylation of different genes is associated with sperm DNA integrity status, with imprinting genes having a higher proportion of differentially methylated CpG sites compared to non-imprinting genes. Further research is needed to investigate the specific mechanisms leading to epigenetic modifications.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2021)
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
Obstetrics & Gynecology
Richard Musson, Lukasz Gasior, Simona Bisogno, Grazyna Ewa Ptak
Summary: This review discusses the sources of DNA damage in gametes and preimplantation embryos, with a focus on current knowledge, limits in DNA damage detection, and screening strategies. It also explores obstacles and future perspectives in the clinical diagnosis and treatment of DNA damaged embryos.
HUMAN REPRODUCTION UPDATE
(2022)
Article
Public, Environmental & Occupational Health
A. Bansal, C. Li, F. Xin, A. Duemler, W. Li, C. Rashid, M. S. Bartolomei, R. A. Simmons
JOURNAL OF DEVELOPMENTAL ORIGINS OF HEALTH AND DISEASE
(2019)
Correction
Public, Environmental & Occupational Health
A. Bansal, C. Li, F. Xin, A. Duemler, W. Li, C. Rashid, M. S. Bartolomei, R. A. Simmons
JOURNAL OF DEVELOPMENTAL ORIGINS OF HEALTH AND DISEASE
(2019)
Article
Genetics & Heredity
Orsolya Symmons, Marcello Chang, Ian A. Mellis, Jennifer M. Kalish, Jihwan Park, Katalin Susztak, Marisa S. Bartolomei, Arjun Raj
Article
Oncology
Matthew A. Loberg, Rebecca K. Bell, Leslie O. Goodwin, Elizabeth Eudy, Linde A. Miles, Jennifer M. SanMiguel, Kira Young, David E. Bergstrom, Ross L. Levine, Rebekka K. Schneider, Jennifer J. Trowbridge
Article
Developmental Biology
Lisa A. Vrooman, Eric A. Rhon-Calderon, Olivia Y. Chao, Duy K. Nguyen, Laren Narapareddy, Asha K. Dahiya, Mary E. Putt, Richard M. Schultz, Marisa S. Bartolomei
Review
Cell Biology
Suhee Chang, Marisa S. Bartolomei
DISEASE MODELS & MECHANISMS
(2020)
Editorial Material
Genetics & Heredity
Marisa S. Bartolomei, Rebecca J. Oakey, Anton Wutz
Article
Hematology
Jennifer M. SanMiguel, Kira Young, Jennifer J. Trowbridge
EXPERIMENTAL HEMATOLOGY
(2020)
Article
Biochemistry & Molecular Biology
Suhee Chang, Stella K. Hur, Natali S. Sobel Naveh, Joanne L. Thorvaldsen, Deborah L. French, Alyssa L. Gagne, Chintan D. Jobaliya, Montserrat C. Anguera, Marisa S. Bartolomei, Jennifer M. Kalish
Summary: Genomic imprinting is a rare form of gene expression in mammals, with human imprinting disorders having diverse etiologies, the most common being BWS. The first iPSC model derived from patients with BWS demonstrates stable DNA methylation and gene expression patterns, providing a cell-based model for investigating the role of imprinting in the pathogenesis of BWS.
Article
Biochemistry & Molecular Biology
Laren Narapareddy, Eric A. Rhon-Calderon, Lisa A. Vrooman, Josue Baeza, Duy K. Nguyen, Clementina Mesaros, Yemin Lan, Benjamin A. Garcia, Richard M. Schultz, Marisa S. Bartolomei
Summary: The study revealed that in vitro fertilization has long-lasting sex-specific effects on the metabolic health of offspring, with females conceived through IVF showing higher body weight and cholesterol levels, while males having higher triglycerides and insulin levels, as well as increased body fat composition.
Review
Genetics & Heredity
Nicole Robles-Matos, Tre Artis, Rebecca A. Simmons, Marisa S. Bartolomei
Summary: Genomic imprinting is an important epigenetic mechanism for mammalian development, and environmental insults may alter DNA methylation patterns leading to increased disease risk.
Article
Cell Biology
Huijuan Lin, Keren Cheng, Hiroshi Kubota, Yemin Lan, Simone S. Riedel, Kazue Kakiuchi, Kotaro Sasaki, Kathrin M. Bernt, Marisa S. Bartolomei, Mengcheng Luo, P. Jeremy Wang
Summary: This study identifies the critical role of DOT1L in the self-renewal of spermatogonial stem cells, mediated by promoting the expression of fate-determining transcription factors HoxC and accumulation of H3K79me2 at specific genes.
GENES & DEVELOPMENT
(2022)
Review
Andrology
Blake A. Caldwell, Marisa S. Bartolomei
Summary: The mammalian genome undergoes two extensive epigenetic reprogramming events during development, with DNA demethylation playing a critical role in germline cells and TET1 being crucial for imprinted gene reprogramming.
Article
Obstetrics & Gynecology
Eric Rhon-Calderon, Cassidy Hemphill, Lisa Vrooman, Casey Rosier, Yemin Lan, Teri Ord, Christos Coutifaris, Monica Mainigi, Richard Schultz, Marisa Bartolomei
Summary: TEBx affects the health of the placenta and embryo during early development, with some changes improving later in development and others worsening, leading to metabolic changes in adult offspring.
HUMAN REPRODUCTION
(2023)
Article
Physiology
Mark Vander Roest, Christopher Krapp, Joanne L. Thorvaldsen, Marisa S. Bartolomei, W. David Merryman
PHYSIOLOGICAL REPORTS
(2019)