Mouse Transgenesis Identifies Conserved Functional Enhancers and cis-Regulatory Motif in the Vertebrate LIM Homeobox Gene Lhx2 Locus
2011

Identifying Functional Enhancers in the Lhx2 Gene

Sample size: 8 publication Evidence: moderate

Author Information

Author(s): Lee Alison P., Brenner Sydney, Venkatesh Byrappa

Primary Institution: Comparative Genomics Laboratory, Institute of Molecular and Cell Biology, A*STAR (Agency for Science, Technology and Research), Singapore

Hypothesis

The study aims to identify functional enhancers in the Lhx2 gene locus using evolutionary constraint as an indicator.

Conclusion

The study found that four out of eight tested conserved noncoding elements (CNEs) function as transcriptional enhancers in specific regions of the central nervous system.

Supporting Evidence

  • Four of the eight CNE constructs tested functioned as tissue-specific enhancers.
  • Mutation of a key motif in one CNE abolished expression in the neural tube and dorsal root ganglia.
  • The study identified a total of 810 CNEs associated with transcription factor-encoding genes that express predominantly in the central nervous system.

Takeaway

The researchers looked for special DNA pieces that help control the Lhx2 gene, which is important for brain and eye development, and found some that work like switches.

Methodology

The study used transgenic mouse assays to test the function of predicted conserved noncoding elements (CNEs) in the Lhx2 locus.

Limitations

The study did not identify all potential enhancers and some may be located outside the investigated region.

Statistical Information

P-Value

p<0.05

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1371/journal.pone.0020088

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