Global analysis of suppressor mutations that rescue human genetic defects

Autor: Betül Ünlü, Carles Pons, Uyen Linh Ho, Amandine Batté, Patrick Aloy, Jolanda van Leeuwen

Publikováno v: Genome Medicine, Vol 15, Iss 1, Pp 1-19 (2023)

Abstract Background Genetic suppression occurs when the deleterious effects of a primary “query” mutation, such as a disease-causing mutation, are rescued by a suppressor mutation elsewhere in the genome. Methods To capture existing knowledge on

Externí odkaz: https://doaj.org/article/0713b1fcf93646109a4a1ee0c056bb27

Evaluation and Design of Genome-Wide CRISPR/SpCas9 Knockout Screens

Autor: Traver Hart, Amy Hin Yan Tong, Katie Chan, Jolanda Van Leeuwen, Ashwin Seetharaman, Michael Aregger, Megha Chandrashekhar, Nicole Hustedt, Sahil Seth, Avery Noonan, Andrea Habsid, Olga Sizova, Lyudmila Nedyalkova, Ryan Climie, Leanne Tworzyanski, Keith Lawson, Maria Augusta Sartori, Sabriyeh Alibeh, David Tieu, Sanna Masud, Patricia Mero, Alexander Weiss, Kevin R. Brown, Matej Usaj, Maximilian Billmann, Mahfuzur Rahman, Michael Constanzo, Chad L. Myers, Brenda J. Andrews, Charles Boone, Daniel Durocher, Jason Moffat

Publikováno v: G3: Genes, Genomes, Genetics, Vol 7, Iss 8, Pp 2719-2727 (2017)

The adaptation of CRISPR/SpCas9 technology to mammalian cell lines is transforming the study of human functional genomics. Pooled libraries of CRISPR guide RNAs (gRNAs) targeting human protein-coding genes and encoded in viral vectors have been used

Externí odkaz: https://doaj.org/article/d4b448c162324c49bda2645179b12775

Co-occurrence of essential gene dispensability and bypass suppressor mutations across species

Autor: Carles Pons, Jolanda van Leeuwen

Genes have been historically classified as either essential or non-essential based on their requirement for viability. However, some genes are essential in some genetic backgrounds but non-essential in others, thus challenging the binary classificati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::03e5212ad8ce8c5163f2164797d9b197
https://doi.org/10.1101/2022.11.11.516117

Exploring conditional gene essentiality through systems genetics approaches in yeast

Autor: Núria Bosch-Guiteras, Jolanda van Leeuwen

Publikováno v: Current opinion in geneticsdevelopment. 76

An essential gene encodes for a cellular function that is required for viability. Although viability is a straightforward phenotype to analyze in yeast, defining a gene as essential is not always trivial. Gene essentiality has generally been studied

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98849957977b62ed3b48ecef60d468d0
https://pubmed.ncbi.nlm.nih.gov/35939967

Natural variants suppress mutations in hundreds of essential genes

Autor: Gianni Liti, Bryan-Joseph San Luis, Jolanda van Leeuwen, Leopold Parts, Meredith Laver, Michael W Yuen, Carles Pons, Elise Eray, Amandine Batté, Patrick Aloy, Maykel Lopes, Jia-Xing Yue

Publikováno v: Molecular Systems Biology
Molecular Systems Biology, EMBO Press, 2021, 17 (1), pp.e10138. ⟨10.15252/msb.202010138⟩
Molecular Systems Biology, Vol 17, Iss 5, Pp n/a-n/a (2021)
Molecular systems biology, vol. 17, no. 5, pp. e10138
Molecular Systems Biology, 2021, 17 (1), pp.e10138. ⟨10.15252/msb.202010138⟩

The consequence of a mutation can be influenced by the context in which it operates. For example, loss of gene function may be tolerated in one genetic background, and lethal in another. The extent to which mutant phenotypes are malleable, the archit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f062eb6467d82163b1877f9abd9d8d2
https://hal.archives-ouvertes.fr/hal-03455912