Gene mutations and genomic rearrangements in the mouse as a result of transposon mobilization from chromosomal concatemers
2006

Gene Mutations and Genomic Rearrangements in Mice from Transposon Mobilization

Sample size: 38 publication 10 minutes Evidence: moderate

Author Information

Author(s): Geurts Aron M, Collier Lara S, Geurts Jennifer L, Oseth Leann L, Bell Matthew L, Mu David, Lucito Robert, Godbout Susan A, Green Laura E, Lowe Scott W, Hirsch Betsy A, Leinwand Leslie A, Largaespada David A

Primary Institution: University of Minnesota Twin Cities

Hypothesis

Can the Sleeping Beauty transposon system be used for forward-genetic studies in the mouse germline?

Conclusion

The study found that the Sleeping Beauty transposon system can lead to significant genomic rearrangements and a high frequency of recessive lethal mutations in mice.

Supporting Evidence

  • The Sleeping Beauty transposon system was successfully used to mutate a region of mouse Chromosome 11.
  • A high frequency of recessive lethal mutations was observed as a result of genomic rearrangements.
  • Visible and behavioral mutants were recovered during the study.
  • Transposon mobilization led to significant genomic rearrangements including deletions and inversions.
  • Candidate gene disruptions were identified in the mutagenized Chromosome 11.
  • Recessive lethality was observed in 21 out of 38 pedigrees screened.
  • Transposon insertions were genetically linked to observed phenotypes.

Takeaway

Scientists used a special tool to change genes in mice and found that it can cause big changes in their DNA, which can lead to some mice not surviving.

Methodology

The study involved breeding transgenic mice with a mutagenic SB transposon vector and a transposase expression construct to create doubly transgenic 'seed' mice for a forward-genetic screen.

Limitations

The study primarily focused on a specific region of mouse Chromosome 11, which may limit the generalizability of the findings.

Participant Demographics

The study involved various strains of transgenic mice, specifically focusing on those with engineered mutations.

Statistical Information

P-Value

0.0113

Statistical Significance

p<0.01

Digital Object Identifier (DOI)

10.1371/journal.pgen.0020156

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