Article
Biotechnology & Applied Microbiology
Anne Caroline Mascarenhas dos Santos, Alexander Thomas Julian, Pingdong Liang, Oscar Juarez, Jean-Francois Pombert
Summary: In this study, the complete genomes of three human-infecting Encephalitozoon spp. were sequenced, revealing that their chromosomes are composed of TTAGG 5-mer telomeric repeats and hypermethylated ribosomal RNA gene loci adjacent to telomeres. The presence of genes involved in telomere maintenance, epigenetic regulation, and heterochromatin formation was also confirmed.
Article
Multidisciplinary Sciences
Savannah J. Hoyt, Jessica M. Storer, Gabrielle A. Hartley, Patrick G. S. Grady, Ariel Gershman, Leonardo G. de Lima, Charles Limouse, Reza Halabian, Luke Wojenski, Matias Rodriguez, Nicolas Altemose, Arang Rhie, Leighton J. Core, Jennifer L. Gerton, Wojciech Makalowski, Daniel Olson, Jeb Rosen, Arian F. A. Smit, Aaron F. Straight, Mitchell R. Vollger, Travis J. Wheeler, Michael C. Schatz, Evan E. Eichler, Adam M. Phillippy, Winston Timp, Karen H. Miga, Rachel J. O'Neill
Summary: Mobile elements and repetitive genomic regions play a crucial role in lineage-specific genomic innovation and can uniquely identify individual genomes. This study presents a novel approach to de novo repeat discovery and annotation of the T2T-CHM13 human reference genome, expanding our understanding of the diversity, distribution, and evolution of repetitive regions in the human genome.
Article
Multidisciplinary Sciences
Dashiell J. Massey, Amnon Koren
Summary: This study presents the first comprehensive analysis of replication timing from telomere to telomere in the human genome using new sequencing data and genome assembly methods. The results reveal a high degree of consistency in replication timing among different genomic regions, and provide insights into the replication timing characteristics and differences of centromeric and heterochromatic regions.
SCIENTIFIC REPORTS
(2022)
Article
Multidisciplinary Sciences
Qixiang He, Xiuhua Lin, Bianca L. Chavez, Sourav Agrawal, Benjamin L. Lusk, Ci Ji Lim
Summary: This study reveals that the CST accessory protein helps organize the Pol alpha-primase enzyme for efficient primer synthesis. Cryogenic electron microscopy structures show that CST separates the DNA and RNA catalytic centers of Pol alpha-primase into two domains and arranges them in the correct order for RNA-DNA synthesis. The study also provides insights into the template-binding specificity of CST and its role in the assembly and activation of the CST-Pol alpha-primase complex.
Article
Biochemistry & Molecular Biology
Michael Le Pepke, Thor Harald Ringsby, Dan T. A. Eisenberg
Summary: Telomere length in birds is an evolutionary labile trait, with shorter telomeres observed in faster-lived species. Additionally, chromosome length is positively correlated with telomere length across species. These findings provide potential adaptive explanations for the variation in telomere lengths observed among birds.
Article
Multidisciplinary Sciences
Olivia Carlund, Anna Norberg, Pia Osterman, Mattias Landfors, Sofie Degerman, Magnus Hultdin
Summary: Telomere Biology Disorders (TBDs) are characterized by mutations in telomere-related genes, leading to short telomeres and premature aging. Epigenetic alterations, such as DNA methylation (DNAm), may play a role in the pathogenesis of TBDs. In a study of 35 TBD cases, DNAm alterations were observed, particularly in those with extremely short telomeres. The identified differentially methylated (DM) CpG sites may serve as markers of short telomeres and potentially contribute to disease progression.
SCIENTIFIC REPORTS
(2023)
Article
Cell Biology
Ryan L. Brown, Elissa E. Epel, Jue Lin, Dena B. Dubal, Aric A. Prather
Summary: Aging biomarkers may be interconnected through direct co-regulation or common processes associated with aging or stress. Klotho, an aging regulator, is involved in regulating insulin signaling, phosphate homeostasis, oxidative stress, and age-related inflammation. This study investigated the association between klotho levels and telomere length in immune cells among mothers caregiving for children with or without autism spectrum disorder (ASD), to understand the potential impact of high caregiving stress on these aging biomarkers. Our results showed a positive association between klotho levels and telomere length in certain immune cells among high-stress mothers of children with ASD, but not among low-stress mothers of neurotypical children. There were no significant associations between klotho and telomerase activity in either group.
Editorial Material
Multidisciplinary Sciences
Felicia Kuperwaser, Itai Yanai
Summary: A comprehensive cell atlas of gene expression and regulation in human embryos has provided a unique opportunity for innovative investigation of development through multi-organ and multi-modal analysis.
Review
Oncology
Kleoniki Roka, Elena E. Solomou, Antonis Kattamis
Summary: Variations in telomere length and pathogenic variants involved in telomere length maintenance are associated with human diseases. Recent breakthroughs in telomere biology have led to the identification of telomeropathies and the discovery of a relationship between telomere length and disease outcome. This review focuses on the biology and physiology of telomeres, and discusses prototype diseases where telomeres play a role in their pathophysiology. It also provides information on the role of telomeres in hematological diseases, ranging from bone marrow failure syndromes to acute and chronic leukemias.
FRONTIERS IN ONCOLOGY
(2023)
News Item
Multidisciplinary Sciences
Philip Ball
Summary: A pair of studies highlight ethical and legal concerns surrounding the status of lab-grown human embryo models.
Article
Biochemistry & Molecular Biology
Martin Reichard, Kety Giannetti, Tania Ferreira, Ahmed Maouche, Milan Vrtilek, Matej Polacik, Radim Blazek, Miguel Godinho Ferreira
Summary: The study reveals that in African killifish, males have shorter lifespans and shorter telomeres compared to females. Fish from different environments also have varying telomere lengths. Individual condition and environmentally-driven selection impact the relationship between telomere length and lifespan.
Article
Biochemistry & Molecular Biology
Darryl McLennan, Sonya K. Auer, Simon McKelvey, Lynn McKelvey, Graeme Anderson, Winnie Boner, Jessica S. Duprez, Neil B. Metcalfe
Summary: Restoring nutrients to streams can mitigate the adverse effects of habitat features on cellular ageing in fish. This suggests that increasing food supply through nutrient restoration reduces competition and stress levels in fish, ultimately improving their overall fitness.
Article
Cell Biology
Xin Zhang, Mengting Shi, Xi Zhao, Ennan Bin, Yucheng Hu, Nan Tang, Huaping Dai, Chen Wang
Summary: This study aimed to investigate the regeneration capacity of AT2 cells with short telomeres. It was found that short telomeres in AT2 cells result in reduced expression level of TPPP3, thereby limiting the differentiation and regeneration capacity of AT2 cells.
CELL PROLIFERATION
(2022)
Editorial Material
Multidisciplinary Sciences
Michael J. Gaudry, Martin Jastroch
Summary: The protein UCP1 in brown fat helps burn calories by releasing heat. The structures of human UCP1 provide important insights into its mechanism and can potentially aid in designing drugs for obesity and metabolic complications.
Article
Pediatrics
Ryan W. Himes, Eric H. Chiou, Karen Queliza, Dror S. Shouval, Raz Somech, Suneet Agarwal, Kunal Jajoo, David S. Ziegler, Christian P. Kratz, James Huang, Tiffany L. Lucas, Kasiani C. Myers, Adam S. Nelson, Courtney D. DiNardo, Blanche P. Alter, Neelam Giri, Payal P. Khincha, Lisa J. McReynolds, Carlo Dufour, Filomena Pierri, Frederick D. Goldman, Youmna Sherif, Sharon A. Savage, Tamir Miloh, Alison A. Bertuch
Summary: Gastrointestinal hemorrhage in patients with telomere biology disorders is associated with significant morbidity, with vascular ectasias rather than varices being common, and the overall long-term outcome for affected patients is poor.
JOURNAL OF PEDIATRICS
(2021)