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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of uterine smoothmuscle tumors we have analyzed 70 MED12 deletions including 46 cases from the literatureand 24 own unpublished cases.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.

US$19.90

PMID: 23738817

DOI: 10.1186/1755-8166-6-23


Other references

Callahan, D., 2001: The future of the medical profession between bioethics and the market: a final comment. For a variety of historical and professional reasons the field of bioethics has paid little attention to the market. It has tended to treat the market with suspicion or hostility. Now, however, the market must be taken seriously. It has become a w...

Luciani, F.; Molinari, A.; Lozupone, F.; Calcabrini, A.; Lugini, L.; Stringaro, A.; Puddu, P.; Arancia, G.; Cianfriglia, M.; Fais, S., 2002: P-glycoprotein-actin association through ERM family proteins: a role in P-glycoprotein function in human cells of lymphoid origin. P-glycoprotein is a 170-kd glycosylated transmembrane protein, expressed in a variety of human cells and belonging to the adenosine triphosphate-binding cassette transporter family, whose membrane expression is functionally associated with the mul...

Martin, J.C., 1978: Who will educate?. Dimensions in Health Service 55(11): 10-11

Wilting, A.; Mohamed, A.; Ambu, L.N.; Lagan, P.; Mannan, S.; Hofer, H.; Sollmann, R., 2012: Density of the Vulnerable Sunda clouded leopard Neofelis diardi in two commercial forest reserves in Sabah, Malaysian Borneo. Recently the Sunda clouded leopard Neofelis diardi was recognized as a separate species distinct from the clouded leopard Neofelis nebulosa of mainland Asia. Both species are categorized as Vulnerable on the IUCN Red List. Little is known about th...

Vázquez, I.; Rodríguez, J.; Marañón, E.; Castrillón, L.; Fernández, Y., 2006: Simultaneous removal of phenol, ammonium and thiocyanate from coke wastewater by aerobic biodegradation. A laboratory-scale activated sludge plant composed of a 20 L volume aerobic reactor followed by a 12 L volume settling tank and operating at 35 degrees C was used to study the biodegradation of coke wastewater. The concentrations of ammonium nitro...

Thompson P.A.; Biddison W.E.; Ledbetter J.A.; Bolen J.B., 1991: Activation of the lck protein tyrosine kinase by antigen presentation to mhc restricted human t cells. Journal of Cellular Biochemistry Supplement (15 PART B): 115

Katyal, J.C., 2003: Soil fertility management - a key to prevent desertification. The areas affected by desertification are determined and the causes of desertification or land degradation are discussed. Land use status, land use change and technology are the identified causes of desertification. Soil fertility management as th...

Espinosa, A.; Hjorth-Hansen, H.; Aasly, K.; Teigum, I.; Sivertsen, G.; Seghatchian, J., 2016: Implementation of a standardised method for the production of allogeneic serum eye drops from regular blood donors in a Norwegian University Hospital: Some methodological aspects and clinical considerations. The use of autologous serum eye drops has been shown to be effective for the treatment of many ocular diseases. For patients were repeated blood sampling is not possible, allogeneic serum eye drops have been shown to be an effective and safe alter...

Cardoso, V.; Hipolito-Reis, C.; Cardoso de Oliveira, M., 1975: The role of lysolecithin in acute experimental cholecystitis. Biologie et Gastro-Enterologie 8(1): 33-37

Feldmann, RM., 1990: Decapod crustacean paleobiogeography: resolving the problem of small sample size. Short Courses in Paleontology, 303-315 No. 3