Review
Cell Biology
Aidan J. Levinsky, Gregor McEdwards, Nasha Sethna, Mark A. Currie
Summary: H3K9 methyltransferases play crucial roles in genome stability, cell type-specific gene expression, and non-histone methylation. They are involved in histone modification and regulate the methylation of various non-histone targets, contributing to genome regulation and cellular functions.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Developmental Biology
Haruka Matsui, Takayuki Iriyama, Seisuke Sayama, Naoko Inaoka, Kensuke Suzuki, Midori Yoshikawa, Mari Ichinose, Kenbun Sone, Keiichi Kumasawa, Takeshi Nagamatsu, Takao Fujisawa, Isao Naguro, Hidenori Ichijo, Tomoyuki Fujii, Yutaka Osuga
Summary: This study investigated the involvement of placental epigenetic regulation by histone methylation in the pathophysiology of PE. The results suggest that enhanced histone H3K4 methylation through upregulated SETD1A and SMYD3 might play a role in PE associated with hypoxia. The findings provide new insights into the epigenetic mechanisms underlying the development of preeclampsia.
Article
Biochemistry & Molecular Biology
Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun, Margot R. F. Reijnders, Marjolein H. Willemsen, Martina Ruiterkamp-Versteeg, Marga Schepens, Calvin C. O. Man, Christian Gilissen, Megan T. Cho, Kirsty McWalter, Margje Sinnema, James W. Wheless, Marleen E. H. Simon, Casie A. Genetti, Alicia M. Casey, Paulien A. Terhal, Jasper J. van Der Smagt, Koen L. van Gassen, Pascal Joset, Angela Bahr, Katharina Steindl, Anita Rauch, Elmar Keller, Annick Raas-Rothschild, David A. Koolen, Pankaj B. Agrawal, Trevor L. Hoffman, Nina N. Powell-Hamilton, Isabelle Thiffault, Kendra Engleman, Dihong Zhou, Olaf Bodamer, Julia Hoefele, Korbinian M. Riedhammer, Eva M. C. Schwaibold, Velibor Tasic, Dirk Schubert, Deniz Top, Rolph Pfundt, Martin R. Higgs, Jamie M. Kramer, Tjitske Kleefstra
Summary: Mutations in histone methyltransferases (HMTs), such as SETD1A, are major contributing factors in neurodevelopmental disorders (NDDs). Identifying clinical features of the Mendelian syndrome associated with haploinsufficiency of SETD1A, this study found that individuals with SETD1A variants present with global developmental delay, intellectual disability, facial dysmorphisms, behavioral and psychiatric problems. Patient-derived cell lines with SETD1A variants showed DNA damage repair defects, suggesting these variants act as loss-of-function alleles. The study also revealed the importance of SETD1A in postmitotic neurons for normal memory function in Drosophila melanogaster, indicating a role in post development neuronal processes and cognitive functioning.
MOLECULAR PSYCHIATRY
(2021)
Editorial Material
Multidisciplinary Sciences
Roberto H. Herai, Katerina Semendeferi, Alysson R. Muotri
Summary: Pinson et al. (1) concluded that the modern human TKTL1 gene is linked to an increased number of cortical neurons. We find that the putative Neanderthal variant of TKTL1 is present in modern human populations. We dispute their argument that this genetic variant is responsible for brain differences between modern humans and Neanderthals.
Review
Biochemistry & Molecular Biology
Thom M. Molenaar, Fred van Leeuwen
Summary: Histone modifying enzymes have important roles in cellular processes and disease. SETD2, for example, methylates histone H3 on lysine 36 (H3K36) during transcription and also methylates non-histone substrates. Understanding the multiple roles of SETD2 is crucial for understanding its role in disease, particularly in cancer where it is frequently inactivated.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2022)
Review
Neurosciences
Shan Wang, Anna Bleeck, Nael Nadif Kasri, Tjitske Kleefstra, Jon-Ruben van Rhijn, Dirk Schubert
Summary: Posttranslational modification of histones and related gene regulation play a crucial role in neurological disorders, with SETD1A influencing gene expression through H3K4 methylation. Variants in SETD1A have been linked to developmental delay, intellectual disability, and schizophrenia. Mouse models of SETD1A dysfunction mimic key behavioral features associated with these disorders, indicating disrupted synaptic and neuronal network function.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2021)
Article
Biochemistry & Molecular Biology
Harem Muhamad Amin, Beata Szabo, Rawan Abukhairan, Andras Zeke, Jozsef Kardos, Eva Schad, Agnes Tantos
Summary: This study investigates the RNA binding capacity of SETD1A and identifies a broad range of interacting RNAs within HEK293T cells. The study also demonstrates the direct RNA binding activity of the individual RRM domain of SETD1A in vitro.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biology
Abigail R. R. Guillermo, Karolina Chocian, Gavriil Gavriilidis, Julien Vandamme, Anna Elisabetta Salcini, Jane Mellor, Alison Woollard
Summary: This study identifies chromatin modifiers as key regulators of longevity, with interactions between different factors such as expression levels and tissue specificity influencing lifespan outcomes. When considering molecular and tissue-specific effects, the heterochromatin loss model of ageing may be too simplistic to fully explain organismal ageing.
Review
Cell Biology
Rodrigo Villasenor, Tuncay Baubec
Summary: Nucleosomes are basic structures used to package genetic information, subject to diverse chemical modifications. These modifications serve as interaction hubs for nuclear proteins, ensuring correct deposition to the genome. The regulation of chromatin marks relies on coordinated activities of writer, eraser, and reader enzymes, often depending on complex multicomponent regulatory circuits.
CURRENT OPINION IN CELL BIOLOGY
(2021)
Review
Urology & Nephrology
Anbarasu Kumaraswamy, Katherine R. Welker Leng, Thomas C. Westbrook, Joel A. Yates, Shuang G. Zhao, Christopher P. Evans, Felix Y. Feng, Todd M. Morgan, Joshi J. Alumkal
Summary: This study systematically reviewed the role of epigenetic factors in prostate cancer from 2015 to 2020, highlighting key preclinical and translational data. Findings from both preclinical and clinical studies were reviewed and summarized, along with a discussion on 12 ongoing clinical studies with epigenetic targeted therapies.
Review
Neurosciences
Foster D. Ritchie, Sofia B. Lizarraga
Summary: Brain size is influenced by various factors during neuronal development. Mutations in histone methyltransferases that modify histone H3 are associated with neurodevelopmental disorders involving abnormal brain size. The interplay between histone modifications and the Polycomb Repressor Complex 2 may contribute to brain size abnormalities.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Multidisciplinary Sciences
Ekaterina Stansfield, Philipp Mitteroecker, Sergey Y. Vasilyev, Sergey Vasilyev, Lauren N. Butaric
Summary: This study investigates the climate-associated features of face shape in a worldwide modern human sample through the use of 3D geometric morphometrics and reduced rank regression, finding adaptations in two Upper Palaeolithic human fossils, Sungir and Mlade. The results suggest quick adaptive rates of facial morphology in Upper Palaeolithic Europe, with Sungir associated with cold temperatures and Mlade with warm-to-hot temperatures, indicating adaptations to a dry environment.
SCIENTIFIC REPORTS
(2021)
Article
Genetics & Heredity
Neha Deshpande, Rachel Jordan, Michelle Henderson Pozzi, Mary Bryk
Summary: The mono-methylation of histone H3 at a specific lysine residue was found to support RNA polymerase II transcription in yeast during nutrient stress. This modification acts in a discrete way to regulate transcription and is involved in the expression of genes required for biosynthesis under nutrient stress.
Review
Genetics & Heredity
Neha Deshpande, Mary Bryk
Summary: Gene transcription is an essential and highly regulated process. The structural organization of nucleosomes with DNA wrapped around histone proteins impedes transcription. Chromatin remodelers, transcription factors, co-activators, and histone-modifying enzymes work together to make DNA accessible to RNA polymerase. Histone lysine methylation can positively or negatively regulate gene transcription.
Article
Multidisciplinary Sciences
Nhu Nguyen, Kristbjorn O. Gudmundsson, Anthony R. Soltis, Kevin Oakley, Kartik R. Roy, Yufen Han, Carmelo Gurnari, Jaroslaw P. Maciejewski, Gary Crouch, Patricia Ernst, Clifton L. Dalgard, Yang Du
Summary: Abnormal activation of SETBP1 is frequently found in myeloid neoplasms and is associated with poor prognosis. The direct interaction between SETBP1 and histone methyltransferase MLL1 plays a critical role in SETBP1-induced transcriptional activation and transformation, and represents a promising target for treating myeloid neoplasms with SETBP1 activation.
Article
Linguistics
Cedric Boeckx
JOURNAL OF NEUROLINGUISTICS
(2017)
Article
Multidisciplinary Sciences
Constantina Theofanopoulou, Simone Gastaldon, Thomas O'Rourke, Bridget D. Samuels, Angela Messner, Pedro Tiago Martins, Francesco Delogu, Saleh Alamri, Cedric Boeckx
Article
Multidisciplinary Sciences
Martin Kuhlwilm, Cedric Boeckx
SCIENTIFIC REPORTS
(2019)
Article
Biochemistry & Molecular Biology
Pedro Tiago Martins, Cedric Boeckx
Review
Behavioral Sciences
Thomas O'Rourke, Cedric Boeckx
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
(2020)
Article
Multidisciplinary Sciences
Bart de Boer, Bill Thompson, Andrea Ravignani, Cedric Boeckx
SCIENTIFIC REPORTS
(2020)
Article
Multidisciplinary Sciences
Matteo Zanella, Alessandro Vitriolo, Alejandro Andirko, Pedro Tiago Martins, Stefanie Sturm, Thomas O'Rourke, Magdalena Laugsch, Natascia Malerba, Adrianos Skaros, Sebastiano Trattaro, Pierre-Luc Germain, Marija Mihailovic, Giuseppe Merla, Alvaro Rada-Iglesias, Cedric Boeckx, Giuseppe Testa
Article
Biochemistry & Molecular Biology
Pedro Tiago Martins, Cedric Boeckx
Article
Multidisciplinary Sciences
Constantina Theofanopoulou, Gregory Gedman, James A. Cahill, Cedric Boeckx, Erich D. Jarvis
Summary: The study indicates that oxytocin and vasopressin are adjacent paralogous genes that likely resulted from a local duplication through DNA transposable elements near the origin of vertebrates, with vasotocin retaining more of the parental sequence. Six major oxytocin-vasotocin receptors were identified among vertebrates, potentially originating from a single receptor shared with the common ancestor of invertebrates through whole-genome and large segmental duplications.
Article
Biology
Ilaria Dutto, Julian Gerhards, Antonio Herrera, Olga Souckova, Vaclava Skopova, Jordann A. Smak, Alexandra Junza, Oscar Yanes, Cedric Boeckx, Martin D. Burkhalter, Marie Zikanova, Sebastian Pons, Melanie Philipp, Jens Luders, Travis H. Stracker
Summary: ADSL deficiency causes neurodevelopmental pathologies, including microcephaly and autism spectrum disorder. Reduced purine levels and impaired de novo purine synthesis contribute to the pathology, while defective ciliogenesis may influence the phenotypic spectrum of ADSLD.
Article
Behavioral Sciences
Limor Raviv, Louise R. Peckre, Cedric Boeckx
Summary: Animal communication and human linguistics show conflicting theories regarding the effect of social complexity on communicative complexity, but exhibit similar patterns in grammar-like structure.
JOURNAL OF COMPARATIVE PSYCHOLOGY
(2022)
Article
Computer Science, Artificial Intelligence
Marcel Ruland, Alejandro Andirko, Iza Romanowska, Cedric Boeckx
Summary: A central question in the evolution of human language is how it emerged. Recent research suggests that a reduction in aggression, changes in brain growth trajectory, and demographic expansion of H. sapiens are potential driving factors behind the evolution of 'modern' language. An abstract agent-based model was developed to investigate the relationship between these factors and the transmission of information within a population. The model shows that cooperation and memory capacity play a crucial role in the amount of transmitted information.
Article
Neurosciences
Cedric Boeckx
Summary: This paper argues that evolutionary narratives and cognitive comparisons cannot fully capture the complexity of the human condition. It highlights the importance of genetic mutations in neurodevelopment that can lead to temperamental differences, ultimately impacting cultural evolution. The author suggests that these different evolutionary trajectories influence the development of symbolic systems, their flexibility, and the communities in which they are used.
FRONTIERS IN NEUROSCIENCE
(2023)