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Mitochondrial DNA deletions are associated with non-B DNA conformations

Title
Mitochondrial DNA deletions are associated with non-B DNA conformations
Type
Article in International Scientific Journal
Year
2012
Authors
Joana Damas
(Author)
Other
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Joao Carneiro
(Author)
Other
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Joana Goncalves
(Author)
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James B Stewart
(Author)
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David C Samuels
(Author)
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Antonio Amorim
(Author)
FCUP
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Journal
Vol. 40
Pages: 7606-7621
ISSN: 0305-1048
Scientific classification
FOS: Natural sciences > Biological sciences
Other information
Authenticus ID: P-002-62T
Abstract (EN): Mitochondrial DNA (mtDNA) deletions are a primary cause of mitochondrial disease and are believed to contribute to the aging process and to various neurodegenerative diseases. Despite strong observational and experimental evidence, the molecular basis of the deletion process remains obscure. In this study, we test the hypothesis that the primary cause of mtDNA vulnerability to breakage resides in the formation of non-B DNA conformations, namely hairpin, cruciform and cloverleaf-like elements. Using the largest database of human mtDNA deletions built thus far (753 different cases), we show that site-specific breakage hotspots exist in the mtDNA. Furthermore, we discover that the most frequent deletion breakpoints occur within or near predicted structures, a result that is supported by data from transgenic mice with mitochondrial disease. There is also a significant association between the folding energy of an mtDNA region and the number of breakpoints that it harbours. In particular, two clusters of hairpins (near the D-loop 3'-terminus and the L-strand origin of replication) are hotspots for mtDNA breakage. Consistent with our hypothesis, the highest number of 5'- and 3'-breakpoints per base is found in the highly structured tRNA genes. Overall, the data presented in this study suggest that non-B DNA conformations are a key element of the mtDNA deletion process.
Language: English
Type (Professor's evaluation): Scientific
Contact: fpereirapt@gmail.com
No. of pages: 16
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