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Molecular topography of the MED12-deleted region in smooth muscle tumors: a possible link between non-B DNA structures and hypermutability

, : Molecular topography of the MED12-deleted region in smooth muscle tumors: a possible link between non-B DNA structures and hypermutability. Molecular Cytogenetics 6(1): 23-23

Deletions of the gene encoding mediator subcomplex 12 (MED12) in human smooth muscletumors rank among the most frequent genomic alterations in human tumors at all. In aminority of these cases, small deletions are found. In an attempt to delineate key features ofthe deletions aimed at a better understanding of the molecular pathogenesis of uterine smoothmuscle tumors we have analyzed 70 MED12 deletions including 46 cases from the literatureand 24 own unpublished cases. The average length of the deletions was 18.7 bp ranging between 2 bp and 43 bp. While ingeneral multitudes of 3 clearly dominated leaving the transcript in frame, deletions of 21, 24,30, and 33 nucleotides were clearly underrepresented. Within the DNA segment affecteddeletion breakpoints were not randomly distributed. Most breakpoints clustered within thecenter of the segment where two peaks of breakpoint clusters could be distinguished.Interestingly, one of these clusters coincides with the loop of a putative folded non-B DNAstructure whereas a much lower number of breaks noted in the 5' and 3' stem of the structureforming an intramolecular B-helix. The second cluster mainly consisting of 3' breaks waslocated in a region downstream adjacent to the stem.The present study describes for the first time main characteristics of MED12 deletionsoccurring in smooth muscle tumors. Interestingly, the non-random distribution of breakpointswithin the deletion hotspot region may point to a role of non-canonical DNA structures forthe occurrence of these mutations and the molecular pathogenesis of uterine smooth muscletumors, respectively.


PMID: 23738817

DOI: 10.1186/1755-8166-6-23

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