Unexpected mutations were expected and unrelated to CRISPR

Scheme illustrating the effect of spontaneous mutations and genetic drift responsible for the divergence of animal subcolonies bred independently (Figure from Montoliu and Whitelaw, Transgenic Research, 2018, online May 31).

Bruce Whitelaw (The Roslin Institute, Edinburgh, Scotland, UK) and I, we have just published a commentary in the scientific journal Transgenic Research discussing the case of the Nature Methods paper by Schaefer et al. 2017 who initially reported the identification of numerous off-target sites altered after a genome-editing experiment in vivo, in mice. This paper has recently been retracted by the journal (March 30). As indicated by the authors in this commentary: “The most plausible explanation for the vast majority of the reported unexpected mutations were the expected underlying genetic polymorphisms that normally accumulate in two different colonies of the same mouse strain which occur as a result of spontaneous mutations and genetic drift. Therefore, the reported mutations were most likely not related to CRISPR-Cas9 activity.

Author: Lluis

Lluis Montoliu (Barcelona, Spain, 1963) graduated in Biological Sciences (1986) and obtained his PhD in Molecular Genetics (1990) at the University of Barcelona. Research Scientist of the Spanish National Research Council (CSIC) at the National Centre for Biotechnology (CNB), in Madrid (Spain) since 1997, after two postdoctoral periods in Heidelberg (German Cancer Research Center, 1991-1995) and Barcelona (Autonomous University of Barcelona, 1995-96). Since 2007 appointed researcher at the Spanish Research Initiative on Rare Diseases (CIBERER-ISCIII) where he is now serving at its Steering Committee. Since 1998 he is Honorary Professor at the Autonomous University of Madrid and, since 2007, Director of the Spanish node of the European Mouse Mutant Archive (EMMA/INFRAFRONTIER) Spanish node. Including his PhD, from 1986, where he worked in plant molecular genetics, in maize, he has been always working on the genetic modification of organisms (GMOs). Since 1991 he has been working in several scientific projects within the field of animal transgenesis. At the CNB he leads a research team interested in basic science, to understand the mechanisms controlling gene expression and organization in mammalian genomes, and in applied science, generating animal models for the study of human rare diseases, such as albinism. He has pioneered the use of in vivo genome-editing CRISPR approaches in Spain for the functional analysis of the non-coding genome. He is the current President of the European Society for Pigment Cell Research (ESPCR) and serves at the boards of additional societies (IFPCS, IMGS, ACB). In 2006, he founded the International Society for Transgenic Technologies (ISTT) for which he has served as President since inception to 2014. He is a member of the CSIC Ethics Committee and the Ethics Panel of ERC in Brussels. In addition to research he is also interested in bioethics, education and popular science.

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