Nature Communications (Nov 2020)
Germline AGO2 mutations impair RNA interference and human neurological development
- Davor Lessel,
- Daniela M. Zeitler,
- Margot R. F. Reijnders,
- Andriy Kazantsev,
- Fatemeh Hassani Nia,
- Alexander Bartholomäus,
- Victoria Martens,
- Astrid Bruckmann,
- Veronika Graus,
- Allyn McConkie-Rosell,
- Marie McDonald,
- Bernarda Lozic,
- Ee-Shien Tan,
- Erica Gerkes,
- Jessika Johannsen,
- Jonas Denecke,
- Aida Telegrafi,
- Evelien Zonneveld-Huijssoon,
- Henny H. Lemmink,
- Breana W. M. Cham,
- Tanja Kovacevic,
- Linda Ramsdell,
- Kimberly Foss,
- Diana Le Duc,
- Diana Mitter,
- Steffen Syrbe,
- Andreas Merkenschlager,
- Margje Sinnema,
- Bianca Panis,
- Joanna Lazier,
- Matthew Osmond,
- Taila Hartley,
- Jeremie Mortreux,
- Tiffany Busa,
- Chantal Missirian,
- Pankaj Prasun,
- Sabine Lüttgen,
- Ilaria Mannucci,
- Ivana Lessel,
- Claudia Schob,
- Stefan Kindler,
- John Pappas,
- Rachel Rabin,
- Marjolein Willemsen,
- Thatjana Gardeitchik,
- Katharina Löhner,
- Patrick Rump,
- Kerith-Rae Dias,
- Carey-Anne Evans,
- Peter Ian Andrews,
- Tony Roscioli,
- Han G. Brunner,
- Chieko Chijiwa,
- M. E. Suzanne Lewis,
- Rami Abou Jamra,
- David A. Dyment,
- Kym M. Boycott,
- Alexander P. A. Stegmann,
- Christian Kubisch,
- Ene-Choo Tan,
- Ghayda M. Mirzaa,
- Kirsty McWalter,
- Tjitske Kleefstra,
- Rolph Pfundt,
- Zoya Ignatova,
- Gunter Meister,
- Hans-Jürgen Kreienkamp
Affiliations
- Davor Lessel
- Institute of Human Genetics, University Medical Center Hamburg-Eppendorf
- Daniela M. Zeitler
- Regensburg Center for Biochemistry (RCB), Laboratory for RNA Biology, University of Regensburg
- Margot R. F. Reijnders
- Department of Human Genetics, Radboud University Medical Center
- Andriy Kazantsev
- Institute of Biochemistry & Molecular Biology, University of Hamburg
- Fatemeh Hassani Nia
- Institute of Human Genetics, University Medical Center Hamburg-Eppendorf
- Alexander Bartholomäus
- Institute of Biochemistry & Molecular Biology, University of Hamburg
- Victoria Martens
- Institute of Human Genetics, University Medical Center Hamburg-Eppendorf
- Astrid Bruckmann
- Regensburg Center for Biochemistry (RCB), Laboratory for RNA Biology, University of Regensburg
- Veronika Graus
- Regensburg Center for Biochemistry (RCB), Laboratory for RNA Biology, University of Regensburg
- Allyn McConkie-Rosell
- Division of Medical Genetics, Department of Pediatrics, Duke University
- Marie McDonald
- Division of Medical Genetics, Department of Pediatrics, Duke University
- Bernarda Lozic
- University Hospital of Split
- Ee-Shien Tan
- Genetics Service, Department of Paediatrics, KK Women’s & Children’s Hospital
- Erica Gerkes
- Department of Genetics, University of Groningen, University Medical Center Groningen
- Jessika Johannsen
- Department of Pediatrics, University Medical Center Eppendorf
- Jonas Denecke
- Department of Pediatrics, University Medical Center Eppendorf
- Aida Telegrafi
- GeneDx
- Evelien Zonneveld-Huijssoon
- Department of Genetics, University of Groningen, University Medical Center Groningen
- Henny H. Lemmink
- Department of Genetics, University of Groningen, University Medical Center Groningen
- Breana W. M. Cham
- Genetics Service, Department of Paediatrics, KK Women’s & Children’s Hospital
- Tanja Kovacevic
- University Hospital of Split
- Linda Ramsdell
- Division of Genetic Medicine, Seattle Children’s Hospital
- Kimberly Foss
- Division of Genetic Medicine, Seattle Children’s Hospital
- Diana Le Duc
- Institute of Human Genetics, University of Leipzig Hospitals and Clinics
- Diana Mitter
- Institute of Human Genetics, University of Leipzig Hospitals and Clinics
- Steffen Syrbe
- Department of General Paediatrics, Division of Pediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg
- Andreas Merkenschlager
- Department of Neuropediatrics, University of Leipzig
- Margje Sinnema
- Department of Clinical Genetics, Maastricht University Medical Center
- Bianca Panis
- Department of Pediatrics, Zuyderland Medical Center
- Joanna Lazier
- Department of Genetics, Children’s Hospital of Eastern Ontario
- Matthew Osmond
- Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa
- Taila Hartley
- Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa
- Jeremie Mortreux
- Département de Génétique Médicale, CHU Timone Enfants, Assistance Publique - Hôpitaux de Marseille AP-HM
- Tiffany Busa
- Département de Génétique Médicale, CHU Timone Enfants, Assistance Publique - Hôpitaux de Marseille AP-HM
- Chantal Missirian
- Département de Génétique Médicale, CHU Timone Enfants, Assistance Publique - Hôpitaux de Marseille AP-HM
- Pankaj Prasun
- Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai
- Sabine Lüttgen
- Institute of Human Genetics, University Medical Center Hamburg-Eppendorf
- Ilaria Mannucci
- Institute of Human Genetics, University Medical Center Hamburg-Eppendorf
- Ivana Lessel
- Institute of Human Genetics, University Medical Center Hamburg-Eppendorf
- Claudia Schob
- Institute of Human Genetics, University Medical Center Hamburg-Eppendorf
- Stefan Kindler
- Institute of Human Genetics, University Medical Center Hamburg-Eppendorf
- John Pappas
- Department of Pediatrics, New York University Grossman School of Medicine
- Rachel Rabin
- Department of Pediatrics, New York University Grossman School of Medicine
- Marjolein Willemsen
- Department of Human Genetics, Radboud University Medical Center
- Thatjana Gardeitchik
- Department of Human Genetics, Radboud University Medical Center
- Katharina Löhner
- Department of Genetics, University of Groningen, University Medical Center Groningen
- Patrick Rump
- Department of Genetics, University of Groningen, University Medical Center Groningen
- Kerith-Rae Dias
- Neuroscience Research Australia (NeuRA), Prince of Wales Clinical School, University of New South Wales
- Carey-Anne Evans
- Neuroscience Research Australia (NeuRA), Prince of Wales Clinical School, University of New South Wales
- Peter Ian Andrews
- Department of Neurology, Sydney Children’s Hospital
- Tony Roscioli
- Neuroscience Research Australia (NeuRA), Prince of Wales Clinical School, University of New South Wales
- Han G. Brunner
- Department of Human Genetics, Radboud University Medical Center
- Chieko Chijiwa
- Department of Medical Genetics, University of British Columbia
- M. E. Suzanne Lewis
- Department of Medical Genetics, University of British Columbia
- Rami Abou Jamra
- Institute of Human Genetics, University of Leipzig Hospitals and Clinics
- David A. Dyment
- Department of Genetics, Children’s Hospital of Eastern Ontario
- Kym M. Boycott
- Department of Genetics, Children’s Hospital of Eastern Ontario
- Alexander P. A. Stegmann
- Department of Human Genetics, Radboud University Medical Center
- Christian Kubisch
- Institute of Human Genetics, University Medical Center Hamburg-Eppendorf
- Ene-Choo Tan
- Research Laboratory, KK Women’s & Children’s Hospital
- Ghayda M. Mirzaa
- Center for Integrative Brain Research, Seattle Children’s Research Institute
- Kirsty McWalter
- GeneDx
- Tjitske Kleefstra
- Department of Human Genetics, Radboud University Medical Center
- Rolph Pfundt
- Department of Human Genetics, Radboud University Medical Center
- Zoya Ignatova
- Institute of Biochemistry & Molecular Biology, University of Hamburg
- Gunter Meister
- Regensburg Center for Biochemistry (RCB), Laboratory for RNA Biology, University of Regensburg
- Hans-Jürgen Kreienkamp
- Institute of Human Genetics, University Medical Center Hamburg-Eppendorf
- DOI
- https://doi.org/10.1038/s41467-020-19572-5
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 14
Abstract
AGO2 binds to miRNAs to repress expression of cognate target mRNAs. Here the authors report that heterozygous AGO2 mutations result in defects in neurological development and impair RNA interference.
