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The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation

Title
The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation
Authors
Munoz-Fuentes, VioletaCacheiro, PilarMeehan, Terrence F.Aguilar-Pimentel, Juan AntonioBrown, Steve D. M.Flenniken, Ann M.Flicek, PaulGalli, AntonellaMashhadi, Hamed Haselide Angelis, Martin HrabeKim, Jong KyoungLloyd, K. C. KentMcKerlie, ColinMorgan, HughMurray, Stephen A.Nutter, Lauryl M. J.Reilly, Patrick T.Seavitt, John R.Seong, Je KyungSimon, MichelleWardle-Jones, HannahMallon, Ann-MarieSmedley, DamianParkinson, Helen E.
DGIST Authors
Munoz-Fuentes, Violeta; Cacheiro, Pilar; Meehan, Terrence F.; Aguilar-Pimentel, Juan Antonio; Brown, Steve D. M.; Flenniken, Ann M.; Flicek, Paul; Galli, Antonella; Mashhadi, Hamed Haseli; de Angelis, Martin Hrabe; Kim, Jong Kyoung; Lloyd, K. C. Kent; McKerlie, Colin; Morgan, Hugh; Murray, Stephen A.; Nutter, Lauryl M. J.; Reilly, Patrick T.; Seavitt, John R.; Seong, Je Kyung; Simon, Michelle; Wardle-Jones, Hannah; Mallon, Ann-Marie; Smedley, Damian; Parkinson, Helen E.
Issue Date
2018-08
Citation
Conservation Genetics, 19(4), 995-1005
Type
Article
Article Type
Article
ISSN
1566-0621
Abstract
The International Mouse Phenotyping Consortium (IMPC) is building a catalogue of mammalian gene function by producing and phenotyping a knockout mouse line for every protein-coding gene. To date, the IMPC has generated and characterised 5186 mutant lines. One-third of the lines have been found to be non-viable and over 300 new mouse models of human disease have been identified thus far. While current bioinformatics efforts are focused on translating results to better understand human disease processes, IMPC data also aids understanding genetic function and processes in other species. Here we show, using gorilla genomic data, how genes essential to development in mice can be used to help assess the potentially deleterious impact of gene variants in other species. This type of analyses could be used to select optimal breeders in endangered species to maintain or increase fitness and avoid variants associated to impaired-health phenotypes or loss-of-function mutations in genes of critical importance. We also show, using selected examples from various mammal species, how IMPC data can aid in the identification of candidate genes for studying a condition of interest, deliver information about the mechanisms involved, or support predictions for the function of genes that may play a role in adaptation. With genotyping costs decreasing and the continued improvements of bioinformatics tools, the analyses we demonstrate can be routinely applied. © 2018, The Author(s).
URI
http://hdl.handle.net/20.500.11750/9455
DOI
10.1007/s10592-018-1072-9
Publisher
Springer Netherlands
Related Researcher
  • Author Kim, Jong Kyoung Laboratory of Single-Cell Genomics
  • Research Interests Single-cell genomics, Bioinformatics, Machine Learning
Files:
There are no files associated with this item.
Collection:
Department of New BiologyLaboratory of Single-Cell Genomics1. Journal Articles


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