4.8 Article

Mouse genomic variation and its effect on phenotypes and gene regulation

期刊

NATURE
卷 477, 期 7364, 页码 289-294

出版社

NATURE PUBLISHING GROUP
DOI: 10.1038/nature10413

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资金

  1. Medical Research Council, UK
  2. Wellcome Trust
  3. Cancer Research UK
  4. Jackson Laboratory
  5. NSF [DEB 0918000]
  6. NLM [NLM 2T15LM007359]
  7. Wellcome Trust [085906/Z/08/Z, 083573/Z/07/Z]
  8. BBSRC [BB/F022697/1]
  9. Immune Tolerance Network [AI 15416]
  10. National Institute of Allergy and Infectious Diseases
  11. National Institute of Diabetes and Digestive and Kidney Diseases
  12. Juvenile Diabetes Research Foundation International
  13. BBSRC [BB/F022697/1] Funding Source: UKRI
  14. MRC [G0800024, MC_EX_G0802457, MC_U127561112, MC_U137761446] Funding Source: UKRI
  15. Biotechnology and Biological Sciences Research Council [BB/F022697/1] Funding Source: researchfish
  16. Medical Research Council [MC_EX_G0802457, MC_U127561112, G0800024, MC_U137761446] Funding Source: researchfish

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We report genome sequences of 17 inbred strains of laboratory mice and identify almost ten times more variants than previously known. We use these genomes to explore the phylogenetic history of the laboratory mouse and to examine the functional consequences of allele-specific variation on transcript abundance, revealing that at least 12% of transcripts show a significant tissue-specific expression bias. By identifying candidate functional variants at 718 quantitative trait loci we show that the molecular nature of functional variants and their position relative to genes vary according to the effect size of the locus. These sequences provide a starting point for a new era in the functional analysis of a key model organism.

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