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Publication : Unusual misregulation of RNA splicing caused by insertion of a transposable element into the T (Brachyury) locus.

First Author  Goldin SN Year  2003
Journal  BMC Genomics Volume  4
Issue  1 Pages  14
PubMed ID  12702217 Mgi Jnum  J:107619
Mgi Id  MGI:3621568 Doi  10.1186/1471-2164-4-14
Citation  Goldin SN, et al. (2003) Unusual misregulation of RNA splicing caused by insertion of a transposable element into the T (Brachyury) locus. BMC Genomics 4(1):14
abstractText  BACKGROUND: The TWis mutant allele of the Brachyury, or T, gene was created by insertion of an endogenous retrovirus-like early transposon (ETn) element into the exon 7 splice donor consensus sequence of the 8 exon T locus. While the developmental consequences of this disruption have been well characterized, the molecular consequences have not been previously investigated, and it has been assumed that the insertion results in a truncated protein. This study sought to further characterize the mutant TWis allele by investigating the nature of the transcripts produced by insertion of this transposable element. RESULTS: Using an RT-PCR based approach, we have shown that at least 8 different mutant transcripts are produced from the TWis allele. All TWis transcripts bypass the mutated exon 7 splice donor site, such that wild type T transcripts are not produced from the TWis allele. CONCLUSIONS: This result shows an unsuspected misregulation of RNA splicing caused by insertion of a transposable element, that could have more widespread consequences in the genome.
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