{"id":35,"date":"2014-12-31T15:31:11","date_gmt":"2014-12-31T20:31:11","guid":{"rendered":"https:\/\/my.vanderbilt.edu\/davidsamuels\/?page_id=35"},"modified":"2014-12-31T15:31:11","modified_gmt":"2014-12-31T20:31:11","slug":"mitochondrial-dna-inheritance-publications","status":"publish","type":"page","link":"https:\/\/my.vanderbilt.edu\/davidsamuels\/publications\/mitochondrial-dna-inheritance-publications\/","title":{"rendered":"Mitochondrial DNA inheritance publications"},"content":{"rendered":"

David Samuels\u2019 peer-reviewed publications on mitochondrial DNA inheritance<\/strong><\/h3>\n

Links to full text are in the journal names<\/p>\n

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Data from artificial models of mitochondrial DNA disorders are not always applicable to humans<\/strong><\/p>\n

Julie Steffan, Nadine Gigarel, David C. Samuels<\/span>, Sophie Monnot, Roxana Borghese, Laetitia Hesters, Nelly Frydman, Philippe Burlet, Rene Frydman, Alexandra Benachi, Agnes Rotig, Arnold Munnich, Jean-Paul Bonnefont (2014) Cell Reports<\/a><\/em><\/strong> 7(4) 933-934<\/p>\n

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Mutation dependence of the mitochondrial DNA copy number in the first stages of human embryogenesis<\/strong><\/p>\n

Sophie Monnot, David C. Samuels<\/span>, Laetitia Hesters, Nelly Frydman, Nadine Gigeral, Philippe Burlet, Violaine Kerbrat, Frederic Lamazou, Rene Frydman, Alexandra Benachi, Josue Feingold, Agnes Rotig, Arnold Munnich, Jean-Paul Bonnefont and Julie Steffann (2013), Human Molecular Genetics<\/a><\/em><\/strong>, 22 (9) 1867-1872.<\/p>\n

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Preventing the transmission of pathogenic mitochondrial DNA mutations: can we achieve long-term benefits from germ-line gene transfer?<\/strong><\/p>\n

David C. Samuels<\/span>, Passorn Wonnapinij, Patrick F. Chinnery (2013) Human Reproduction<\/a><\/em><\/strong> 28(3), 554-559. PMC3571501<\/p>\n

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Universal heteroplasmy of human mitochondrial DNA<\/strong><\/p>\n

Brendan A. I. Payne, Ian J. Wilson, Patrick Yu-Wai-Man, Jon Coxhead, David Deehan, Rita Horvath, Robert W. Taylor, David C. Samuels<\/span>, Mauro Santibanez-Koref, and Patrick F. Chinnery. (2013) Human Molecular Genetics<\/a><\/em><\/strong> 22(2) 384-390. PMC3526165<\/p>\n

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Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission<\/strong><\/p>\n

Christoph Freyer, Lynsey M Cree, Arnoud Mourier, James B Stewart, Camilla Koolmeister, Dusanka Milenkovac, David C Samuels<\/span>, Nils-Goran Larsson, Patrick F Chinnery (2012), Nature Genetics<\/a><\/em><\/strong> (44) 1282-1285. PMC3492742<\/p>\n

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Unique mitochondrial DNA in highly inbred feral cattle<\/strong><\/p>\n

G. Hudson, I. Wilson, B.I.A. Payne, J. Elson, D.C. Samuels<\/span>, M.Santibanez-Korev, S.J.G. Hall, P.F. Chinnery (2012), Mitochondrion<\/a> <\/em><\/strong>12, 438-440.<\/p>\n

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The use of next-generation sequencing technology to study the effect of radiation therapy on mitochondrial DNA mutation<\/strong><\/p>\n

Y. Guo, Q. Cai, D.C. Samuels<\/span>, F. Ye, J. Long, C.-I. Li, J.F. Winther, E.J. Tawn, M. Stovall, P. Lahteenmaki, N. Malia, S. Levy, C. Shaffer, Y. Shyr, X. Shu, J.D. Boice Jr (2012) Mutation Research \u2013 Genetic Toxicology and Environmental Mutagenesis<\/a><\/em><\/strong> 744, 154-160. PMC3354959<\/p>\n

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Poor Correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans<\/strong><\/p>\n

N. Gigarel, L. Hester, D.C. Samuels<\/span>, S. Monnot, P. Burlet, V. Kerbrat, F. Lamazou, A. Benachi, R. Frydman, J. Feingold, A. Rotig, A. Munnich, J.P. Bonnefont, N. Frydman, J. Steffann (2011) American Journal of Human Genetics<\/a><\/em><\/strong> 88, 494-498.<\/p>\n

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Segregation of mtDNA throughout human embryofetal development: m3243A>G as a model system<\/strong><\/p>\n

S. Monnot, N. Gigarel, D.C. Samuels<\/span>, P. Burlet, L. Hesters, N. Frydman, R. Frydman, V. Kerbrat, B. Funalot, J. Martinovic, A. Benachi, J. Feingold, A. Munnich, J-P. Bonnefont, J. Steffann. (2011) Human Mutation<\/a><\/em><\/strong> 32(1), 116-125. PMC3058134.<\/p>\n

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Reassessing evidence for a postnatal mitochondrial genetic bottleneck<\/strong><\/p>\n

D.C. Samuels<\/span>, P. Wonnapinij, L.M. Cree, P.F. Chinnery, (2010), Nature Genetics<\/a><\/em><\/strong> 42(6), 471-472. PMID:20502486.<\/p>\n

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Information for genetic management of mtDNA disease: Sampling pathogenic mtDNA mutants in the human germline and in placenta<\/strong><\/p>\n

D.R. Marchington, S. Malik, A. Banerjee, K, Turner, D. Samuels<\/span>, V. Macauley, P Oakeshott, C. Fratter, S.H. Kennedy, J. Poulton (2010) Journal of Medical Genetics<\/a><\/em><\/strong>, 47, 257-261.<\/p>\n

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Previous estimates of mitochondrial DNA mutation level variance did not account<\/strong> for sampling error: Comparing the mtDNA genetic bottleneck in mice and humans<\/strong><\/p>\n

P. Wonnapinij, P.F. Chinnery, D.C. Samuels<\/span> (2010), American Journal of Human Genetics<\/a> <\/em><\/strong>86(4) 540-550. PMC2850432.<\/p>\n

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The diversity present in 5140 human mitochondrial genomes<\/strong><\/p>\n

L. Pereira, F. Freitas, V. Fernandes, J.B. Pereira, M.D. Costa, S. Costa, V. Maximo, V. Macaulay, R. Rocha, D.C. Samuels<\/span> (2009) American Journal of Human Genetics<\/a> <\/em><\/strong>84 (5) 628-640. PMC2681004.<\/p>\n

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The inheritance of pathogenic mitochondrial DNA mutations<\/strong><\/p>\n

L.M. Cree, D.C. Samuels<\/span>, P.F. Chinnery (2009) Biochemica et Biophysica Acta \u2013 Molecular Basis of Disease<\/a><\/em><\/strong> 1792 (12), 1097-1102. PMC2785871.<\/p>\n

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The Distribution of Mitochondrial DNA Heteroplasmy Due to Random Genetic Drift<\/strong> <\/strong><\/p>\n

P. Wonnapinij, P.F. Chinnery, D.C. Samuels<\/span> (2008), American Journal of Human Genetics<\/a> <\/em><\/strong>83: 582-593. PubMed PMID:18976726; PMC2668051.<\/p>\n

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Pathogenic mitochondrial DNA mutations are common in the general public<\/strong><\/p>\n

H.R. Elliot, D.C. Samuels<\/span>, J.A. Eden, C.L. Relton, P.F. Chinnery (2008). American Journal of Human Genetics<\/a><\/em><\/strong> 83: 254-260. PMC2495064.<\/p>\n

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A reduction in the number of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes<\/strong> <\/strong><\/p>\n

L.M. Cree, D.C. Samuels<\/span>, S.C. de Sousa-Lopes, H.K. Rajasimha, P. Wonnapinij, J.R. Mann, H.H.M. Dahl, P.F. Chinnery (2008) Nature Genetics<\/a><\/em><\/strong> 40 (2): 249-254. PMID:18223651.<\/p>\n

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Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A>G mutation in blood<\/strong><\/p>\n

H.K. Rajasimha, P.F. Chinnery, D.C. Samuels<\/span> (2008), American Journal of Human Genetics<\/a><\/em><\/strong> 82: 333-343. PMC2427290.<\/p>\n

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Random genetic drift determines the level of mutant mitochondrial DNA in human primary oocytes<\/strong> <\/strong><\/p>\n

D.T. Brown, D.C. Samuels<\/span>, E.M. Michael, D.M. Turnbull, P.F. Chinnery (2001), American Journal of Human Genetics<\/a><\/em><\/strong> 68: 533-536. PMC1235288.<\/p>\n

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The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?<\/strong> <\/strong><\/p>\n

P.F. Chinnery, D.R. Thorburn, D.C. Samuels<\/span>, S.L. White, H.H.M. Dahl, D.M. Turnbull, R.N. Lightowlers, N. Howell (2000) Trends in Genetics<\/a><\/em><\/strong> 16: 500-505. PMID:11074292.<\/p>\n

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 <\/p>\n","protected":false},"excerpt":{"rendered":"

David Samuels\u2019 peer-reviewed publications on mitochondrial DNA inheritance Links to full text are in the journal names   Data from artificial models of mitochondrial DNA disorders are not always applicable to humans Julie Steffan, Nadine Gigarel, David C. Samuels, Sophie Monnot, Roxana Borghese, Laetitia Hesters, Nelly Frydman, Philippe Burlet, Rene Frydman, Alexandra Benachi, Agnes Rotig,…<\/p>\n","protected":false},"author":3442,"featured_media":0,"parent":6,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"tags":[],"class_list":["post-35","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/my.vanderbilt.edu\/davidsamuels\/wp-json\/wp\/v2\/pages\/35","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/my.vanderbilt.edu\/davidsamuels\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/my.vanderbilt.edu\/davidsamuels\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/my.vanderbilt.edu\/davidsamuels\/wp-json\/wp\/v2\/users\/3442"}],"replies":[{"embeddable":true,"href":"https:\/\/my.vanderbilt.edu\/davidsamuels\/wp-json\/wp\/v2\/comments?post=35"}],"version-history":[{"count":2,"href":"https:\/\/my.vanderbilt.edu\/davidsamuels\/wp-json\/wp\/v2\/pages\/35\/revisions"}],"predecessor-version":[{"id":39,"href":"https:\/\/my.vanderbilt.edu\/davidsamuels\/wp-json\/wp\/v2\/pages\/35\/revisions\/39"}],"up":[{"embeddable":true,"href":"https:\/\/my.vanderbilt.edu\/davidsamuels\/wp-json\/wp\/v2\/pages\/6"}],"wp:attachment":[{"href":"https:\/\/my.vanderbilt.edu\/davidsamuels\/wp-json\/wp\/v2\/media?parent=35"}],"wp:term":[{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/my.vanderbilt.edu\/davidsamuels\/wp-json\/wp\/v2\/tags?post=35"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}