Whole genome analysis for 163 gRNAs in Cas9-edited mice reveals minimal off-target activity

Autor: Kevin A. Peterson, Sam Khalouei, Nour Hanafi, Joshua A. Wood, Denise G. Lanza, Lauri G. Lintott, Brandon J. Willis, John R. Seavitt, Robert E. Braun, Mary E. Dickinson, Jacqueline K. White, K. C. Kent Lloyd, Jason D. Heaney, Stephen A. Murray, Arun Ramani, Lauryl M. J. Nutter

Publikováno v: Communications Biology, Vol 6, Iss 1, Pp 1-10 (2023)

Abstract Genome editing with CRISPR-associated (Cas) proteins holds exceptional promise for “correcting” variants causing genetic disease. To realize this promise, off-target genomic changes cannot occur during the editing process. Here, we use w

Externí odkaz: https://doaj.org/article/f7798291f4934fd091966e0b3ee6f881

Human and mouse essentiality screens as a resource for disease gene discovery

Autor: Pilar Cacheiro, Violeta Muñoz-Fuentes, Stephen A. Murray, Mary E. Dickinson, Maja Bucan, Lauryl M. J. Nutter, Kevin A. Peterson, Hamed Haselimashhadi, Ann M. Flenniken, Hugh Morgan, Henrik Westerberg, Tomasz Konopka, Chih-Wei Hsu, Audrey Christiansen, Denise G. Lanza, Arthur L. Beaudet, Jason D. Heaney, Helmut Fuchs, Valerie Gailus-Durner, Tania Sorg, Jan Prochazka, Vendula Novosadova, Christopher J. Lelliott, Hannah Wardle-Jones, Sara Wells, Lydia Teboul, Heather Cater, Michelle Stewart, Tertius Hough, Wolfgang Wurst, Radislav Sedlacek, David J. Adams, John R. Seavitt, Glauco Tocchini-Valentini, Fabio Mammano, Robert E. Braun, Colin McKerlie, Yann Herault, Martin Hrabě de Angelis, Ann-Marie Mallon, K. C. Kent Lloyd, Steve D. M. Brown, Helen Parkinson, Terrence F. Meehan, Damian Smedley, The Genomics England Research Consortium, The International Mouse Phenotyping Consortium

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)

Discovery of causal variants for monogenic disorders has been facilitated by whole exome and genome sequencing, but does not provide a diagnosis for all patients. Here, the authors propose a Full Spectrum of Intolerance to Loss-of-Function (FUSIL) ca

Externí odkaz: https://doaj.org/article/38973450f49d45729ee9836b3968bc61

Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critical Liver–Brain Axis for Lipid Homeostasis

Autor: Sofia Milosavljevic, Kevin E. Glinton, Xiqi Li, Cláudia Medeiros, Patrick Gillespie, John R. Seavitt, Brett H. Graham, Sarah H. Elsea

Publikováno v: Metabolites, Vol 12, Iss 4, p 351 (2022)

Though biallelic variants in SLC13A5 are known to cause severe encephalopathy, the mechanism of this disease is poorly understood. SLC13A5 protein deficiency reduces citrate transport into the cell. Downstream abnormalities in fatty acid synthesis an

Externí odkaz: https://doaj.org/article/e32e6342040b41ca94d5665fb28d87e4

Prevalence of sexual dimorphism in mammalian phenotypic traits

Autor: Natasha A. Karp, Jeremy Mason, Arthur L. Beaudet, Yoav Benjamini, Lynette Bower, Robert E. Braun, Steve D.M. Brown, Elissa J. Chesler, Mary E. Dickinson, Ann M. Flenniken, Helmut Fuchs, Martin Hrabe de Angelis, Xiang Gao, Shiying Guo, Simon Greenaway, Ruth Heller, Yann Herault, Monica J. Justice, Natalja Kurbatova, Christopher J. Lelliott, K.C. Kent Lloyd, Ann-Marie Mallon, Judith E. Mank, Hiroshi Masuya, Colin McKerlie, Terrence F. Meehan, Richard F. Mott, Stephen A. Murray, Helen Parkinson, Ramiro Ramirez-Solis, Luis Santos, John R. Seavitt, Damian Smedley, Tania Sorg, Anneliese O. Speak, Karen P. Steel, Karen L. Svenson, International Mouse Phenotyping Consortium, Shigeharu Wakana, David West, Sara Wells, Henrik Westerberg, Shay Yaacoby, Jacqueline K. White

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-12 (2017)

Systemic dissection of sexually dimorphic phenotypes in mice is lacking. Here, Karp and the International Mouse Phenotype Consortium show that approximately 10% of qualitative traits and 56% of quantitative traits in mice as measured in laboratory se

Externí odkaz: https://doaj.org/article/903b3cd9e9ab44c786e930b7a65ed71e

Identifying genetic determinants of inflammatory pain in mice using a large-scale gene-targeted screen

Autor: Sara Wells, Marc Parisien, Abigail J. D’Souza, Rasneer Sonia Bains, Hamed Haselimashhadi, Mary E. Dickinson, Matthew Mckay, Amelia M. Willett, Christopher S. Ward, Robert Braun, Jeremy Mason, Stephen A. Murray, Emma Peterson, Michayla A. Moore, Damian Smedley, Erin E. Young, Luis Santos, Elissa L. Chesler, Laura C. Anderson, Rachel Urban, Helen Parkinson, Lynette Bower, John R. Seavitt, Dawei Qu, Leslie O. Goodwin, Vivek Kumar, Jason D. Heaney, Subhiksha Srinivasan, Kevin C K Lloyd, Mark E. Harrison, Steve D.M. Brown, Colin McKerlie, Ann M. Flenniken, Jacqueline K. White, Lauryl M. J. Nutter, Ziyue Huang, Jason A. Bubier, Daniel J. Delbarre, Robert P. Bonin, Kyle M. Baumbauer, Alexandr Bezginov, Dave Clary, Igor Vukobradovic, Ann-Marie Mallon, Silvia Mandillo, Luda Diatchenko, Surabi Veeraragavan, Michelle Stewart, Rodney C. Samaco, Janine M Wotton

Publikováno v: Pain (Amst. Print) (2021). doi:10.1097/j.pain.0000000000002481
info:cnr-pdr/source/autori:Wotton, Janine M.a; Peterson, Emmaa; Flenniken, Ann M.b,c; Bains, Rasneer S.d; Veeraragavan, Surabie,f; Bower, Lynette R.g; Bubier, Jason A.a; Parisien, March; Bezginov, Alexandrb,i; Haselimashhadi, Hamedj; Mason, Jeremyj; Moore, Michayla A.a; Stewart, Michelle E.d; Clary, Dave A.g; Delbarre, Daniel J.k; Anderson, Laura C.a; D'Souza, Abigailb,c; Goodwin, Leslie O.a; Harrison, Mark E.d; Huang, Ziyueb,c; Mckay, Matthewa; Qu, Daweib,c; Santos, Luisk; Srinivasan, Subhikshae; Urban, Rachela; Vukobradovic, Igorb,c; Ward, Christopher S.l; Willett, Amelia M.a; Braun, Robert E.a; Brown, Steve D.M.k; Dickinson, Mary E.l; Heaney, Jason D.e; Kumar, Viveka; Lloyd, K.C. Kentg,m; Mallon, Ann-Mariek; McKerlie, Colinc,i; Murray, Stephen A.a; Nutter, Lauryl M.J.b,i; Parkinson, Helenj; Seavitt, John R.e; Wells, Sarad; Samaco, Rodney C.e,f; Chesler, Elissa J.a; Smedley, Damiann; Diatchenko, Ludah; Baumbauer, Kyle M.o; Young, Erin E.p; Bonin, Robert P.q; Mandillo, Silviar; White, Jacqueline K.a,* The International Mouse Phenotyping Consortium/titolo:Identifying genetic determinants of inflammatory pain in mice using a large-scale gene-targeted screen/doi:10.1097%2Fj.pain.0000000000002481/rivista:Pain (Amst. Print)/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume

Identifying the genetic determinants of pain is a scientific imperative given the magnitude of the global health burden that pain causes. Here, we report a genetic screen for nociception, performed under the auspices of the International Mouse Phenot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4ba3068c6fd21cd20d394b0472d1cb8
https://doi.org/10.1097/j.pain.0000000000002481