ArticlemedRxiv : the preprint server for health sciences2025
Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder.
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Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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54 authors.
Marissa J MaroniNeuroscience Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.
Melissa BartonCell and Molecular Biology Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.
Katherine LynchDepartment of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.
Ashish R DeshwarProgram in Developmental and Stem Cell Biology, Sickkids Research Institute, Toronto, ON M5G 0A4, Canada.
Philip D CampbellDepartment of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA.
Josephine MillardDepartment of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.
Rachel LeeDepartment of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY 10016, USA.
Annastelle CohenCell and Molecular Biology Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.
Rili AhmadDepartment of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.
Alekh ParanjapyeDepartment of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.
Víctor FaundesLaboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago, Chile 7830490.
Gabriela M RepettoRare Diseases Program, Center for Genetics and Genomics, Institute for Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Las Condes, Chile 7610671.ORCID 0000-0003-0120-5684
Caoimhe McKennaNorthern Ireland Regional Genetics Service, Belfast, Belfast BT9 7AB, Northern Ireland.
Amelle L ShillingtonCincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Chanika PhornphutkulRhode Island Hospital, Providence, RI 0290, USA.
Hanne B HoveRare Diseases Unit, Dept. of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. Member of ERNBond.
Grazia M S ManciniDepartment of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.
Rachel SchotDepartment of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.
Tahsin Stefan BarakatDepartment of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.ORCID 0000-0003-1231-1562
Christopher M RichmondRoyal Brisbane & Women's Hospital, Herston, Queensland, 4006, Australia.
Julie LauzonAlberta Children's Hospital, Calgary AB Canada Department of Medical Genetics, Cummings School of Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada.
Ahmed Ibrahim Elsayed IbrahimBrody school of medicine, Greenville, NC 27834, USA.
Caroline NavaSorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Hôpital Pitié Salpêtrière, Paris, France.
Delphine HéronAssistance Publique- Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.
Minke M A van AalstDepartment of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.
Slavena AteminGenetic Medico-Diagnostic Laboratory "Genica", Sofia, Bulgaria.
Mila SleptsovaGenetic Medico-Diagnostic Laboratory "Genica", Sofia, Bulgaria.
Iliyana AleksandrovaClinic of Child Neurology, MHATNP "St. Naum", Medical University-Sofia, Sofia, Bulgaria.
Albena TodorovaGenetic Medico-Diagnostic Laboratory "Genica", Sofia, Bulgaria.
Debra L WatkinsDepartment of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada.
Mariya A KozenkoDepartment of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada.
Daniel Natera-de BenitoNeuromuscular Unit, Hospital Sant Joan de Deu, 08950, Barcelona, Spain.ORCID 0000-0001-7764-2085
Carlos OrtezNeuromuscular Unit, Hospital Sant Joan de Deu, 08950, Barcelona, Spain.
Berta Estevez-AriasNeuromuscular Unit, Hospital Sant Joan de Deu, 08950, Barcelona, Spain.
François LecoquierreUniv Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, 76000, Rouen, France.
Kévin CassinariUniv Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, 76000, Rouen, France.
Anne-Marie GuerrotUniv Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, 76000, Rouen, France.
Jonathan LevyDepartment of Genetics, APHP-Robert Debré University Hospital, 75019, Paris, France.
Xenia LatypovaDepartment of Genetics, APHP-Robert Debré University Hospital, 75019, Paris, France.
Alain VerloesDepartment of Genetics, APHP-Robert Debré University Hospital, 75019, Paris, France.
A Micheil InnesUniversity of Calgary Department of Medical Genetics; Alberta Children's Hospital Research Institute, Calgary, AB T3B 6A8, Canada.
Xiao-Ru YangUniversity of Calgary Department of Medical Genetics; Alberta Children's Hospital Research Institute, Calgary, AB T3B 6A8, Canada.
Siddharth BankaDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9WL Manchester, UK.
Katharina VillDepartment of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, 80539, Munich, Germany.
Maureen JacobInstitute of Human Genetics, School of Medicine and Health, Technical University of Munich, 81675, Munich, Germany.
Michael KruerPediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Peter SkidmorePediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Carolina I Galaz-MontoyaPediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Somayeh BakhtiariPediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Jessica L MesterGeneDx, Gaithersburg, MD, 20877, USA.
Michael GranatoDepartment of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Karim-Jean ArmacheDepartment of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY 10016, USA.
Gregory CostainDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.ORCID 0000-0003-0099-9945
Erica KorbDepartment of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.
Funding
The Intellectual and Developmental Disabilities Research Center (IDDRC) at CHOP/PennP50HD105354 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI Michael Byrne Robinson · 2021 to 2026
$9.2MThe epigenetic encoding of learning and memoryDP2MH129985 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI KORB, ERICA MEGAN · 2021 to 2024
$2.4MThe role of chromatin regulators in neurodevelopmental disordersR01NS134755 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI Erica Megan Korb · 2024 to 2026
$1.7MThe Histone Code of Neuronal Function and DysfunctionR00MH111836 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI KORB, ERICA MEGAN · 2019 to 2021
$745kMitochondrial mechanisms underlying neural stem and progenitor cell proliferation deficits in 22q11.2 deletion syndromeK08NS135125 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI Philip Campbell · 2024 to 2026
$694kLinking epigenetics to electrophysiology using high-throughput microelectrode array-based hardware with simultaneous optogenetic activationS10OD032363 · OD · UNIVERSITY OF PENNSYLVANIA · PI PHILLIPS-CREMINS, JENNIFER ELIZABETH · 2023 to 2023
$259kThe Role of H3K79 Methylation and Dot1L in Neuronal Function and Neurodevelopmental DisordersF31NS129242 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI MARONI, MARISSA · 2023 to 2025
$87kNICHD NIH HHS P50 HD105354NIH HHS S10 OD032363NIMH NIH HHS DP2 MH129985NIMH NIH HHS R00 MH111836NINDS NIH HHS F31 NS129242NINDS NIH HHS K08 NS135125NINDS NIH HHS R01 NS134755
Abstract
Individuals with monoallelic gain-of-function variants in the histone lysine methyltransferase DOT1L display global developmental delay and varying congenital anomalies. However, the impact of monoallelic loss of
Indexed as
DOT1Lloss-of-functionneurodevelopmental disorders
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