Article
Oncology
Georgina Kingshott, Kalina Biernacka, Alex Sewell, Paida Gwiti, Rachel Barker, Hanna Zielinska, Amanda Gilkes, Kathryn McCarthy, Richard M. Martin, J. Athene Lane, Lucy McGeagh, Anthony Koupparis, Edward Rowe, Jon Oxley, Jeff M. P. Holly, Claire M. Perks
Summary: IGF-II is a potent growth factor implicated in various cancers, sharing its locus with H19. IGF-II and H19 are imprinted genes, with only the maternal copy expressed, while the paternal copy is silenced in many cancers.
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.
Article
Agriculture, Dairy & Animal Science
D. C. Brabazon, J. J. Callanan, C. M. Nolan
Summary: Genomic imprinting is a phenomenon in which gene expression differs based on the sex of the parent from whom the alleles were inherited. Although only a small number of genes are regulated in this way, they play important biological roles and are crucial for understanding disease processes and evolution.
Article
Immunology
Peng Song, Ke Cao, Yonghuan Mao, Shichao Ai, Feng Sun, Qiongyuan Hu, Song Liu, Meng Wang, Xiaofeng Lu, Wenxian Guan, Xiaofei Shen
Summary: Transcriptional profiles and heterogeneity of innate lymphoid cells (ILCs) were revealed using single-cell genomics. ILCs showed tissue-specific distinctions under different pathological conditions. This study provides a comprehensive characterization of ILC anatomical distribution and subset heterogeneity, laying the foundation for further studies on tissue-specific ILC-mediated immunity.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Agriculture, Dairy & Animal Science
Bruna Rodrigues Willhelm, Elvis Ticiani, Karine Campagnolo, Gabriella Borba de Oliveira, Karine de Mattos, Camilo Andres Pena Bello, Felipe Ledur Ongaratto, Paula Rodriguez-Villamil, Luciana Relly, Juliana Paula Martins Alves, Davide Rondina, Jose Luiz Rigo Rodrigues, Marcelo Bertolini
Summary: The bovine IGF2 locus contains five promoters driving alternative transcripts, with P4 being the main pathway for IGF2 expression during oocyte maturation and embryo development. Different promoter-derived transcripts show specific expression patterns in oocytes and pre-implantation embryos, suggesting distinct roles during early and later developmental stages.
REPRODUCTION IN DOMESTIC ANIMALS
(2021)
Article
Biochemistry & Molecular Biology
Silvana Pileggi, Marta La Vecchia, Elisa Adele Colombo, Laura Fontana, Patrizia Colapietro, Davide Rovina, Annamaria Morotti, Silvia Tabano, Giovanni Porta, Myriam Alcalay, Cristina Gervasini, Monica Miozzo, Silvia Maria Sirchia
Summary: This study investigated the impact of mutations in cohesin complex genes on chromatin architecture and imprinting network, particularly focusing on the IGF2/H19 locus. The results showed general impairment of chromatin architecture, emergence of new interactions, and dysregulation of the WNT pathway. The study provides new evidence on the effects of cohesin genetic defects on chromatin structure and epigenetic stability.
Article
Developmental Biology
Bethany R. L. Aykroyd, Simon J. Tunster, Amanda N. Sferruzzi-Perri
Summary: ICR1 controls placental endocrine capacity through the expansion of endocrine cell types and sexually-dimorphic changes in signaling pathways.
Article
Biochemical Research Methods
Mariana Barboza, Kemal Solakyildirim, Trina A. Knotts, Jonathan Luke, Melanie G. Gareau, Helen E. Raybould, Carlito B. Lebrilla
Summary: This study utilized a novel technology to analyze the N-glycome of different brain regions, revealing distinct expression profiles of glycans in functional brain areas, laying the foundation for studying the specific roles of N-glycans in brain health and disease. By studying the cell membrane N-glycome, it demonstrated the spatial distribution of glycan variations in different brain regions, providing insights into the complex glyco-architecture of the brain.
MOLECULAR & CELLULAR PROTEOMICS
(2021)
Article
Nutrition & Dietetics
Aatish Mahajan, Divika Sapehia, Beenish Rahat, Jyotdeep Kaur
Summary: Maternal folic acid and B-12 status during pregnancy influence fetal growth. This study reveals that altered dietary ratio of folic acid and B-12 affects the regulation of the H19/IGF2 locus in mice.
BRITISH JOURNAL OF NUTRITION
(2022)
Article
Multidisciplinary Sciences
Samuel Rivero-Hinojosa, Elena M. Pugacheva, Sungyun Kang, Claudia Fabiola Mendez-Catala, Alexander L. Kovalchuk, Alexander Strunnikov, Dmitri Loukinov, Jeannie T. Lee, Victor V. Lobanenkov
Summary: CTCF and BORIS interact and compensate in the male germline of mice to ensure appropriate activation of spermatogenesis-specific genes, with compound mutant males being sterile due to depletion of both proteins.
NATURE COMMUNICATIONS
(2021)
Review
Biochemistry & Molecular Biology
Pierluigi Scalia, Stephen J. Williams, Yoko Fujita-Yamaguchi
Summary: The regulation of the human IGF2 gene is controlled by multiple mechanisms at the genetic and epigenetic levels, ultimately affecting gene expression. Deregulation of these mechanisms can lead to overexpression of IGF2, resulting in abnormal fetal growth and increased cell proliferation observed in overgrowth syndromes and cancer. Our review sheds new light on the extended regulation of IGF2 gene activation, emphasizing the integration between epigenetic and genetic machinery. It also suggests potential targets for therapeutic strategies aimed at degrading the IGF2 gene and regulatory proteins.
Article
Cardiac & Cardiovascular Systems
Kuo-Tzu Sung, Jen-Yuan Kuo, Chun-Ho Yun, Yueh-Hung Lin, Jui-Peng Tsai, Chi-In Lo, Chih-Chung Hsiao, Yau-Huei Lai, Cheng-Ting Tsai, Charles Jia-Yin Hou, Cheng-Huang Su, Hung- Yeh, Chen-Yen Chien, Ta-Chuan Hung, Chung-Lieh Hung
Summary: Region-specific visceral adiposity may not equally discriminate baseline dysglycemia or diabetes, and showed differential predictive performance in new-onset diabetes. Our data suggested that interatrial fat may serve as a potential marker for new-onset diabetes.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Article
Agriculture, Dairy & Animal Science
Jinsoo Ahn, In-Sul Hwang, Mi-Ryung Park, Seongsoo Hwang, Kichoon Lee
Summary: Our comparative study revealed the imprinted expression of the KBTBD6 gene in domesticated mammals, but not in humans, non-human primates, and mice, implicating the species-specific evolution of genomic imprinting.
JOURNAL OF ANIMAL SCIENCE AND BIOTECHNOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Eun Ji Lee, Seung-Jae Noh, Huiseon Choi, Min Woo Kim, Su Jin Kim, Yeon Ah Seo, Ji Eun Jeong, Inkyung Shin, Jong-Seok Kim, Jong-Kwon Choi, Dae-Yeon Cho, Suhwan Chang
Summary: This study used RNA-seq analysis to investigate the changes in splicing patterns and correlations of tissue-specific genes during primary-patient derived xenograft (PDX) tumor formation. The results revealed significant changes in splicing patterns and overall strong positive correlations between primary and PDX tumors, except for gastric cancer cases. These findings suggest that tissue specificity and splicing events may play a role in primary-PDX integrity.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Yongjie Zhang, Zhiyuan Sui, Zhishuai Zhang, Chenguang Wang, Xiaojun Li, Feng Xing
Summary: This study investigated the imprinting status of the MAGEL2 gene and its relationship with the onset of puberty in Dolang sheep. The MAGEL2 gene showed paternal expression and maternal imprinting in Dolang sheep, and it was highly expressed in the hypothalamus and pituitary gland. The study suggests that MAGEL2 may be involved in the initiation of puberty in Dolang sheep and provides a basis for further research on the mechanism of puberty onset in sheep.
DNA AND CELL BIOLOGY
(2023)
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)
Article
Hematology
Jennifer M. SanMiguel, Kira Young, Jennifer J. Trowbridge
EXPERIMENTAL HEMATOLOGY
(2020)
Article
Genetics & Heredity
John Sebastian Sigmon, Matthew W. Blanchard, Ralph S. Baric, Timothy A. Bell, Jennifer Brennan, Gudrun A. Brockmann, A. Wesley Burks, J. Mauro Calabrese, Kathleen M. Caron, Richard E. Cheney, Dominic Ciavatta, Frank Conlon, David B. Darr, James Faber, Craig Franklin, Timothy R. Gershon, Lisa Gralinski, Bin Gu, Christiann H. Gaines, Robert S. Hagan, Ernest G. Heimsath, Mark T. Heise, Pablo Hock, Folami Ideraabdullah, J. Charles Jennette, Tal Kafri, Anwica Kashfeen, Mike Kulis, Vivek Kumar, Colton Linnertz, Alessandra Livraghi-Butrico, K. C. Kent Lloyd, Cathleen Lutz, Rachel M. Lynch, Terry Magnuson, Glenn K. Matsushima, Rachel McMullan, Darla R. Miller, Karen L. Mohlke, Sheryl S. Moy, Caroline E. Y. Murphy, Maya Najarian, Lori O'Brien, Abraham A. Palmer, Benjamin D. Philpot, Scott H. Randell, Laura Reinholdt, Yuyu Ren, Steve Rockwood, Allison R. Rogala, Avani Saraswatula, Christopher M. Sassetti, Jonathan C. Schisler, Sarah A. Schoenrock, Ginger D. Shaw, John R. Shorter, Clare M. Smith, Celine L. St Pierre, Lisa M. Tarantino, David W. Threadgill, William Valdar, Barbara J. Vilen, Keegan Wardwell, Jason K. Whitmire, Lucy Williams, Mark J. Zylka, Martin T. Ferris, Leonard McMillan, Fernando Pardo Manuel de Villena
Article
Biochemistry & Molecular Biology
Lucas T. Laudermilk, Adelaide Tovar, Alison K. Homstad, Joseph M. Thomas, Kathryn M. McFadden, Miriya K. Tune, Dale O. Cowley, Jason R. Mock, Folami Ideraabdullah, Samir N. P. Kelada
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)
Article
Biochemistry & Molecular Biology
Laetitia P. Meyrueix, Raad Gharaibeh, Jing Xue, Cory Brouwer, Corbin Jones, Linda Adair, Shane A. Norris, Folami Ideraabdullah
Summary: This study defined the DNA methylome of GDM placentas and identified changes in methylation at genes important for placental development. The findings revealed extensive changes in the placental epigenome of GDM pregnancies, particularly in genes related to placental development pathways. These molecular changes may serve as potential biomarkers for placental, maternal, and fetal health.
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
Toxicology
Abhishek Venkatratnam, Christelle Douillet, Brent C. Topping, Qing Shi, Kezia A. Addo, Folami Y. Ideraabdullah, Rebecca C. Fry, Miroslav Styblo
Summary: Exposure to inorganic arsenic (iAs) can affect gene expression in parental germ cells and lead to the development of diabetic phenotypes in male offspring, possibly through germ cell-associated inheritance. However, paradoxically, preconception exposure may have a protective effect in female offspring, warranting further investigation.
ARCHIVES OF TOXICOLOGY
(2021)
Article
Genetics & Heredity
Anandita Pal, Judy Oakes, Marwa Elnagheeb, Folami Y. Ideraabdullah
EPIGENETICS INSIGHTS
(2020)
Article
Nutrition & Dietetics
Jing Xue, Elizabeth K. Hutchins, Marwa Elnagheeb, Yi Li, William Valdar, Susan McRitchie, Susan Sumner, Folami Y. Ideraabdullah
CURRENT DEVELOPMENTS IN NUTRITION
(2020)