Genome wide association analysis in a mouse advanced intercross line

Natalia M. Gonzales, Jungkyun Seo, Ana Hernandez Cordero, Celine St. Pierre, Jennifer Gregory, Margaret Distler, Mark Abney, Stefan Canzar, Arimantas Lionikas, Abraham Palmer

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Abstract

The LG/J x SM/J advanced intercross line of mice (LG x SM AIL) is a multigenerational outbred population. High minor allele frequencies, a simple genetic background, and the fully sequenced LG and SM genomes make it a powerful population for genome-wide association studies. Here we use 1,063 AIL mice to identify 126 significant associations for 50 traits relevant to human health and disease. We also identify thousands of cis- and trans-eQTLs in the hippocampus, striatum, and prefrontal cortex of ~200 mice. We replicate an association between locomotor activity and Csmd1, which we identified in an earlier generation of this AIL, and show that Csmd1 mutant mice recapitulate the locomotor phenotype. Our results demonstrate the utility of the LG x SM AIL as a mapping population, identify numerous novel associations, and shed light on the genetic architecture of mammalian behavior.
Original languageEnglish
Article number5162
JournalNature Communications
Volume9
DOIs
Publication statusPublished - 4 Dec 2018

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genome
Genome-Wide Association Study
mice
Genes
Health
hippocampus
Population
sheds
phenotype
cortexes
Locomotion
Prefrontal Cortex
Gene Frequency
health
Hippocampus
Genome
Phenotype

Keywords

  • behavioural genetics
  • genetic association study
  • genetics
  • heritable quantitative trait
  • quantitative trait

Cite this

Gonzales, N. M., Seo, J., Hernandez Cordero, A., St. Pierre, C., Gregory, J., Distler, M., ... Palmer, A. (2018). Genome wide association analysis in a mouse advanced intercross line. Nature Communications, 9, [5162]. https://doi.org/10.1038/s41467-018-07642-8

Genome wide association analysis in a mouse advanced intercross line. / Gonzales, Natalia M. ; Seo, Jungkyun ; Hernandez Cordero, Ana; St. Pierre, Celine ; Gregory, Jennifer; Distler, Margaret; Abney, Mark; Canzar, Stefan ; Lionikas, Arimantas; Palmer, Abraham.

In: Nature Communications, Vol. 9, 5162, 04.12.2018.

Research output: Contribution to journalArticle

Gonzales, NM, Seo, J, Hernandez Cordero, A, St. Pierre, C, Gregory, J, Distler, M, Abney, M, Canzar, S, Lionikas, A & Palmer, A 2018, 'Genome wide association analysis in a mouse advanced intercross line', Nature Communications, vol. 9, 5162. https://doi.org/10.1038/s41467-018-07642-8
Gonzales NM, Seo J, Hernandez Cordero A, St. Pierre C, Gregory J, Distler M et al. Genome wide association analysis in a mouse advanced intercross line. Nature Communications. 2018 Dec 4;9. 5162. https://doi.org/10.1038/s41467-018-07642-8
Gonzales, Natalia M. ; Seo, Jungkyun ; Hernandez Cordero, Ana ; St. Pierre, Celine ; Gregory, Jennifer ; Distler, Margaret ; Abney, Mark ; Canzar, Stefan ; Lionikas, Arimantas ; Palmer, Abraham. / Genome wide association analysis in a mouse advanced intercross line. In: Nature Communications. 2018 ; Vol. 9.
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