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Related Experiment Videos

Complex haplotypes, copy number polymorphisms and coding variation in two recently divergent mouse strains.

David J Adams1, Emmanouil T Dermitzakis, Tony Cox

  • 1The Wellcome Trust Sanger Institute, Hinxton, Cambs, CB10 1SA, UK.

Nature Genetics
|April 27, 2005
PubMed
Summary
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Genomic analysis reveals significant structural and nucleotide variations between mouse strains 129Sv and C57BL/6J. These differences explain the unique genetic characteristics of each inbred mouse strain.

Area of Science:

  • Genomics
  • Comparative genomics
  • Mouse genetics

Background:

  • Inbred mouse strains are crucial for genetic research, with inbreeding driving genomic evolution and fixing specific alleles.
  • Mouse strains 129Sv (129S5) and C57BL/6J are widely used but their genomic differences remain largely unknown.
  • Understanding these differences is key to defining the unique characteristics of each strain.

Purpose of the Study:

  • To identify and characterize the genomic differences between mouse strains 129Sv (129S5) and C57BL/6J.
  • To understand the impact of inbreeding on allele fixation and strain uniqueness.

Main Methods:

  • Comparative genomic hybridization (CGH).
  • Sequence analysis of 129S5 short insert libraries.
  • Analysis of nucleotide variation, including single nucleotide polymorphisms (SNPs) and stop codons.

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Main Results:

  • Substantial structural variation identified between the two mouse strains.
  • Complex fine-scale haplotype patterns with continuous diversity blocks were observed.
  • Extensive nucleotide variation, including nonsynonymous coding SNPs and stop codons, was detected in strain 129S5.

Conclusions:

  • Significant genomic divergence exists between 129Sv and C57BL/6J despite recent common ancestry.
  • The identified variations provide insights into the allele fixation processes during inbreeding.
  • These findings establish a basis for differentiating the unique genomic profiles of these essential mouse models.