학술논문
The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia
Document Type
article
Author
Ralda Nehme; Olli Pietiläinen; Mykyta Artomov; Matthew Tegtmeyer; Vera Valakh; Leevi Lehtonen; Christina Bell; Tarjinder Singh; Aditi Trehan; John Sherwood; Danielle Manning; Emily Peirent; Rhea Malik; Ellen J. Guss; Derek Hawes; Amanda Beccard; Anne M. Bara; Dane Z. Hazelbaker; Emanuela Zuccaro; Giulio Genovese; Alexander A. Loboda; Anna Neumann; Christina Lilliehook; Outi Kuismin; Eija Hamalainen; Mitja Kurki; Christina M. Hultman; Anna K. Kähler; Joao A. Paulo; Andrea Ganna; Jon Madison; Bruce Cohen; Donna McPhie; Rolf Adolfsson; Roy Perlis; Ricardo Dolmetsch; Samouil Farhi; Steven McCarroll; Steven Hyman; Ben Neale; Lindy E. Barrett; Wade Harper; Aarno Palotie; Mark Daly; Kevin Eggan
Source
Nature Communications, Vol 13, Iss 1, Pp 1-21 (2022)
Subject
Language
English
ISSN
2041-1723
Abstract
How the 22q11.2 deletion predisposes to psychiatric disease is unclear. Here, the authors examine living human neuronal cells and show that 22q11.2 regulates the expression of genes linked to autism during early development, and genes linked to schizophrenia and synaptic biology in neurons.