New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation
Identifieur interne : 000857 ( Ncbi/Curation ); précédent : 000856; suivant : 000858New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation
Auteurs : Denis Pierron [France] ; Christophe Rocher [France] ; Patricia Amati-Bonneau [France] ; Pascal Reynier [France] ; Marie-Laure Martin-Négrier [France] ; Stéphane Allouche [France] ; Cécile Batandier [France] ; Benedicte Mousson De Camaret [France] ; Catherine Godinot [France] ; Agnes Rotig [France] ; Delphine Feldmann [France] ; Christine Bellanne-Chantelot [France] ; Benoit Arveiler [France] ; Erwann Pennarun [Estonie] ; Rodrigue Rossignol [France] ; Marc Crouzet [France] ; Pascal Murail [France] ; Didier Thoraval [France] ; Thierry Letellier [France]Source :
- BMC Medical Genetics [ 1471-2350 ] ; 2008.
Abstract
The A3243G mutation in the tRNALeu gene (UUR), is one of the most common pathogenic mitochondrial DNA (mtDNA) mutations in France, and is associated with highly variable and heterogeneous disease phenotypes. To define the relationships between the A3243G mutation and mtDNA backgrounds, we determined the haplogroup affiliation of 142 unrelated French patients – diagnosed as carriers of the A3243G mutation – by control-region sequencing and RFLP survey of their mtDNAs.
The analysis revealed 111 different haplotypes encompassing all European haplogroups, indicating that the 3243 site might be a mutational hot spot. However, contrary to previous findings, we observed a statistically significant underepresentation of the A3243G mutation on haplogroup J in patients (p = 0.01, OR = 0.26, C.I. 95%: 0.08–0.83), suggesting that might be due to a strong negative selection at the embryo or germ line stages.
Thus, our study supports the existence of mutational hotspot on mtDNA and a "haplogroup J paradox," a haplogroup that may increase the expression of mtDNA pathogenic mutations, but also be beneficial in certain environmental contexts.
Url:
DOI: 10.1186/1471-2350-9-41
PubMed: 18462486
PubMed Central: 2409300
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Biochimie et Génétique Moléculaire, Centre Hospitalier Universitaire de Grenoble, 38054 Grenoble, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biochimie et Génétique Moléculaire, Centre Hospitalier Universitaire de Grenoble, 38054 Grenoble</wicri:regionArea><placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region><region type="old region" nuts="2">Rhône-Alpes</region><settlement type="city">Grenoble</settlement></placeName></affiliation></author><author><name sortKey="De Camaret, Benedicte Mousson" sort="De Camaret, Benedicte Mousson" uniqKey="De Camaret B" first="Benedicte Mousson" last="De Camaret">Benedicte Mousson De Camaret</name><affiliation wicri:level="3"><nlm:aff id="I8">Laboratoire de Biochimie Pédiatrique, Hôpital Debrousse, 69322 Lyon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biochimie Pédiatrique, Hôpital Debrousse, 69322 Lyon</wicri:regionArea><placeName><region 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Université Victor Segalen Bordeaux 2, 33076 Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Pôle Génotypage-Séquençage, Université Victor Segalen Bordeaux 2, 33076 Bordeaux</wicri:regionArea><placeName><region type="region" nuts="2">Nouvelle-Aquitaine</region><region type="old region" nuts="2">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Pennarun, Erwann" sort="Pennarun, Erwann" uniqKey="Pennarun E" first="Erwann" last="Pennarun">Erwann Pennarun</name><affiliation wicri:level="1"><nlm:aff id="I14">Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia</nlm:aff><country xml:lang="fr">Estonie</country><wicri:regionArea>Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu and Estonian Biocentre, Tartu</wicri:regionArea><wicri:noRegion>Tartu</wicri:noRegion></affiliation></author><author><name sortKey="Rossignol, Rodrigue" sort="Rossignol, Rodrigue" uniqKey="Rossignol R" first="Rodrigue" last="Rossignol">Rodrigue Rossignol</name><affiliation wicri:level="3"><nlm:aff id="I3">INSERM, U688 Laboratoire de Physiopathologie Mitochondriale; Université Victor Segalen-Bordeaux 2, 33076 Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U688 Laboratoire de Physiopathologie Mitochondriale; Université Victor Segalen-Bordeaux 2, 33076 Bordeaux</wicri:regionArea><placeName><region type="region" nuts="2">Nouvelle-Aquitaine</region><region type="old region" nuts="2">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Crouzet, Marc" sort="Crouzet, Marc" uniqKey="Crouzet M" first="Marc" last="Crouzet">Marc Crouzet</name><affiliation wicri:level="3"><nlm:aff id="I2">Institut de Biochimie et Génétique Cellulaires, UMR 5095, CNRS, Université Victor Segalen-Bordeaux 2, 33076 Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut de Biochimie et Génétique Cellulaires, UMR 5095, CNRS, Université Victor Segalen-Bordeaux 2, 33076 Bordeaux</wicri:regionArea><placeName><region type="region" nuts="2">Nouvelle-Aquitaine</region><region type="old region" nuts="2">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Murail, Pascal" sort="Murail, Pascal" uniqKey="Murail P" first="Pascal" last="Murail">Pascal Murail</name><affiliation wicri:level="3"><nlm:aff id="I1">Université Bordeaux 1, Laboratoire d'Anthropologie des Populations du Passé, UMR 5199 PACEA, 33400 Talence, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Bordeaux 1, Laboratoire d'Anthropologie des Populations du Passé, UMR 5199 PACEA, 33400 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Thierry" uniqKey="Letellier T" first="Thierry" last="Letellier">Thierry Letellier</name><affiliation wicri:level="3"><nlm:aff id="I3">INSERM, U688 Laboratoire de Physiopathologie Mitochondriale; Université Victor Segalen-Bordeaux 2, 33076 Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U688 Laboratoire de Physiopathologie Mitochondriale; Université Victor Segalen-Bordeaux 2, 33076 Bordeaux</wicri:regionArea><placeName><region type="region" nuts="2">Nouvelle-Aquitaine</region><region type="old region" nuts="2">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">18462486</idno><idno type="pmc">2409300</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2409300</idno><idno type="RBID">PMC:2409300</idno><idno type="doi">10.1186/1471-2350-9-41</idno><date when="2008">2008</date><idno 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Talence, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Bordeaux 1, Laboratoire d'Anthropologie des Populations du Passé, UMR 5199 PACEA, 33400 Talence</wicri:regionArea><placeName><region type="region" nuts="2">Nouvelle-Aquitaine</region><region type="old region" nuts="2">Aquitaine</region><settlement type="city">Talence</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="I2">Institut de Biochimie et Génétique Cellulaires, UMR 5095, CNRS, Université Victor Segalen-Bordeaux 2, 33076 Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut de Biochimie et Génétique Cellulaires, UMR 5095, CNRS, Université Victor Segalen-Bordeaux 2, 33076 Bordeaux</wicri:regionArea><placeName><region type="region" nuts="2">Nouvelle-Aquitaine</region><region type="old region" nuts="2">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="I3">INSERM, U688 Laboratoire de Physiopathologie Mitochondriale; Université Victor Segalen-Bordeaux 2, 33076 Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U688 Laboratoire de Physiopathologie Mitochondriale; Université Victor Segalen-Bordeaux 2, 33076 Bordeaux</wicri:regionArea><placeName><region type="region" nuts="2">Nouvelle-Aquitaine</region><region type="old region" nuts="2">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Rocher, Christophe" sort="Rocher, Christophe" uniqKey="Rocher C" first="Christophe" last="Rocher">Christophe Rocher</name><affiliation wicri:level="3"><nlm:aff id="I3">INSERM, U688 Laboratoire de Physiopathologie Mitochondriale; Université Victor Segalen-Bordeaux 2, 33076 Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U688 Laboratoire de Physiopathologie Mitochondriale; Université Victor Segalen-Bordeaux 2, 33076 Bordeaux</wicri:regionArea><placeName><region type="region" nuts="2">Nouvelle-Aquitaine</region><region type="old region" nuts="2">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Amati Bonneau, Patricia" sort="Amati Bonneau, Patricia" uniqKey="Amati Bonneau P" first="Patricia" last="Amati-Bonneau">Patricia Amati-Bonneau</name><affiliation wicri:level="3"><nlm:aff id="I4">INSERM, U694, Angers, F-49033 France; Departement de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, F-49033 France</nlm:aff><country wicri:rule="zip">France</country><wicri:regionArea>INSERM, U694, Angers, F-49033 France; Departement de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, F-49033 France</wicri:regionArea><placeName><region type="region" nuts="2">Pays de la Loire</region><settlement type="city">France</settlement></placeName></affiliation></author><author><name sortKey="Reynier, Pascal" sort="Reynier, Pascal" uniqKey="Reynier P" first="Pascal" last="Reynier">Pascal Reynier</name><affiliation wicri:level="3"><nlm:aff id="I4">INSERM, U694, Angers, F-49033 France; Departement de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, F-49033 France</nlm:aff><country wicri:rule="zip">France</country><wicri:regionArea>INSERM, U694, Angers, F-49033 France; Departement de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, F-49033 France</wicri:regionArea><placeName><region type="region" nuts="2">Pays de la Loire</region><settlement type="city">France</settlement></placeName></affiliation></author><author><name sortKey="Martin Negrier, Marie Laure" sort="Martin Negrier, Marie Laure" uniqKey="Martin Negrier M" first="Marie-Laure" last="Martin-Négrier">Marie-Laure Martin-Négrier</name><affiliation wicri:level="3"><nlm:aff id="I5">Laboratoire d'Anatomie Pathologique, Centre Hospitalier Universitaire, Laboratoire d'Histologie-Embryologie, UFRII, Université Victor Segalen Bordeaux 2, 33076 Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire d'Anatomie Pathologique, Centre Hospitalier Universitaire, Laboratoire d'Histologie-Embryologie, UFRII, Université Victor Segalen Bordeaux 2, 33076 Bordeaux</wicri:regionArea><placeName><region type="region" nuts="2">Nouvelle-Aquitaine</region><region type="old region" nuts="2">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Allouche, Stephane" sort="Allouche, Stephane" uniqKey="Allouche S" first="Stéphane" last="Allouche">Stéphane Allouche</name><affiliation wicri:level="3"><nlm:aff id="I6">Laboratoire de Biologie cellulaire et moléculaire de la signalisation, UPRES-EA 3919, Université de Caen, 14033 Caen, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biologie cellulaire et moléculaire de la signalisation, UPRES-EA 3919, Université de Caen, 14033 Caen</wicri:regionArea><placeName><region type="region" nuts="2">Région Normandie</region><region type="old region" nuts="2">Basse-Normandie</region><settlement type="city">Caen</settlement></placeName></affiliation></author><author><name sortKey="Batandier, Cecile" sort="Batandier, Cecile" uniqKey="Batandier C" first="Cécile" last="Batandier">Cécile Batandier</name><affiliation wicri:level="3"><nlm:aff id="I7">Laboratoire de Biochimie et Génétique Moléculaire, Centre Hospitalier Universitaire de Grenoble, 38054 Grenoble, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biochimie et Génétique Moléculaire, Centre Hospitalier Universitaire de Grenoble, 38054 Grenoble</wicri:regionArea><placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region><region type="old region" nuts="2">Rhône-Alpes</region><settlement type="city">Grenoble</settlement></placeName></affiliation></author><author><name sortKey="De Camaret, Benedicte Mousson" sort="De Camaret, Benedicte Mousson" uniqKey="De Camaret B" first="Benedicte Mousson" last="De Camaret">Benedicte Mousson De Camaret</name><affiliation wicri:level="3"><nlm:aff id="I8">Laboratoire de Biochimie Pédiatrique, Hôpital Debrousse, 69322 Lyon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biochimie Pédiatrique, Hôpital Debrousse, 69322 Lyon</wicri:regionArea><placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region><region type="old region" nuts="2">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Godinot, Catherine" sort="Godinot, Catherine" uniqKey="Godinot C" first="Catherine" last="Godinot">Catherine Godinot</name><affiliation wicri:level="3"><nlm:aff id="I9">Centre de Génétique Moléculaire et Cellulaire, UMR 5534, CNRS, Université Claude Bernard de Lyon 1, 69622 Villeurbanne, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique Moléculaire et Cellulaire, UMR 5534, CNRS, Université Claude Bernard de Lyon 1, 69622 Villeurbanne</wicri:regionArea><placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region><region type="old region" nuts="2">Rhône-Alpes</region><settlement type="city">Villeurbanne</settlement></placeName></affiliation></author><author><name sortKey="Rotig, Agnes" sort="Rotig, Agnes" uniqKey="Rotig A" first="Agnes" last="Rotig">Agnes Rotig</name><affiliation wicri:level="3"><nlm:aff id="I10">Department of Genetics, INSERM U781 Hôpital Necker-Enfants Malades, 75743 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, INSERM U781 Hôpital Necker-Enfants Malades, 75743 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Feldmann, Delphine" sort="Feldmann, Delphine" uniqKey="Feldmann D" first="Delphine" last="Feldmann">Delphine Feldmann</name><affiliation wicri:level="3"><nlm:aff id="I11">Service de Biochimie et de Biologie Moléculaire, INSERM U587 Hôpital d'Enfants Armand-Trousseau, AP-HP, 75571 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Biochimie et de Biologie Moléculaire, INSERM U587 Hôpital d'Enfants Armand-Trousseau, AP-HP, 75571 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Bellanne Chantelot, Christine" sort="Bellanne Chantelot, Christine" uniqKey="Bellanne Chantelot C" first="Christine" last="Bellanne-Chantelot">Christine Bellanne-Chantelot</name><affiliation wicri:level="3"><nlm:aff id="I12">Department of Cytogenetics, Hôpital Saint-Antoine-AP-HP, 75012 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Cytogenetics, Hôpital Saint-Antoine-AP-HP, 75012 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Arveiler, Benoit" sort="Arveiler, Benoit" uniqKey="Arveiler B" first="Benoit" last="Arveiler">Benoit Arveiler</name><affiliation wicri:level="3"><nlm:aff id="I13">Pôle Génotypage-Séquençage, Université Victor Segalen Bordeaux 2, 33076 Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Pôle Génotypage-Séquençage, Université Victor Segalen Bordeaux 2, 33076 Bordeaux</wicri:regionArea><placeName><region type="region" nuts="2">Nouvelle-Aquitaine</region><region type="old region" nuts="2">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Pennarun, Erwann" sort="Pennarun, Erwann" uniqKey="Pennarun E" first="Erwann" last="Pennarun">Erwann Pennarun</name><affiliation wicri:level="1"><nlm:aff id="I14">Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia</nlm:aff><country xml:lang="fr">Estonie</country><wicri:regionArea>Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu and Estonian Biocentre, Tartu</wicri:regionArea><wicri:noRegion>Tartu</wicri:noRegion></affiliation></author><author><name sortKey="Rossignol, Rodrigue" sort="Rossignol, Rodrigue" uniqKey="Rossignol R" first="Rodrigue" last="Rossignol">Rodrigue Rossignol</name><affiliation wicri:level="3"><nlm:aff id="I3">INSERM, U688 Laboratoire de Physiopathologie Mitochondriale; Université Victor Segalen-Bordeaux 2, 33076 Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U688 Laboratoire de Physiopathologie Mitochondriale; Université Victor Segalen-Bordeaux 2, 33076 Bordeaux</wicri:regionArea><placeName><region type="region" nuts="2">Nouvelle-Aquitaine</region><region type="old region" nuts="2">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Crouzet, Marc" sort="Crouzet, Marc" uniqKey="Crouzet M" first="Marc" last="Crouzet">Marc Crouzet</name><affiliation wicri:level="3"><nlm:aff id="I2">Institut de Biochimie et Génétique Cellulaires, UMR 5095, CNRS, Université Victor Segalen-Bordeaux 2, 33076 Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut de Biochimie et Génétique Cellulaires, UMR 5095, CNRS, Université Victor Segalen-Bordeaux 2, 33076 Bordeaux</wicri:regionArea><placeName><region type="region" nuts="2">Nouvelle-Aquitaine</region><region type="old region" nuts="2">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Murail, Pascal" sort="Murail, Pascal" uniqKey="Murail P" first="Pascal" last="Murail">Pascal Murail</name><affiliation wicri:level="3"><nlm:aff id="I1">Université Bordeaux 1, Laboratoire d'Anthropologie des Populations du Passé, UMR 5199 PACEA, 33400 Talence, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Bordeaux 1, Laboratoire d'Anthropologie des Populations du Passé, UMR 5199 PACEA, 33400 Talence</wicri:regionArea><placeName><region type="region" nuts="2">Nouvelle-Aquitaine</region><region type="old region" nuts="2">Aquitaine</region><settlement type="city">Talence</settlement></placeName></affiliation></author><author><name sortKey="Thoraval, Didier" sort="Thoraval, Didier" uniqKey="Thoraval D" first="Didier" last="Thoraval">Didier Thoraval</name><affiliation wicri:level="3"><nlm:aff id="I2">Institut de Biochimie et Génétique Cellulaires, UMR 5095, CNRS, Université Victor Segalen-Bordeaux 2, 33076 Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut de Biochimie et Génétique Cellulaires, UMR 5095, CNRS, Université Victor Segalen-Bordeaux 2, 33076 Bordeaux</wicri:regionArea><placeName><region type="region" nuts="2">Nouvelle-Aquitaine</region><region type="old region" nuts="2">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Letellier, Thierry" sort="Letellier, Thierry" uniqKey="Letellier T" first="Thierry" last="Letellier">Thierry Letellier</name><affiliation wicri:level="3"><nlm:aff id="I3">INSERM, U688 Laboratoire de Physiopathologie Mitochondriale; Université Victor Segalen-Bordeaux 2, 33076 Bordeaux, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U688 Laboratoire de Physiopathologie Mitochondriale; Université Victor Segalen-Bordeaux 2, 33076 Bordeaux</wicri:regionArea><placeName><region type="region" nuts="2">Nouvelle-Aquitaine</region><region type="old region" nuts="2">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author></analytic><series><title level="j">BMC Medical Genetics</title><idno type="eISSN">1471-2350</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>The A3243G mutation in the tRNALeu gene (UUR), is one of the most common pathogenic mitochondrial DNA (mtDNA) mutations in France, and is associated with highly variable and heterogeneous disease phenotypes. To define the relationships between the A3243G mutation and mtDNA backgrounds, we determined the haplogroup affiliation of 142 unrelated French patients – diagnosed as carriers of the A3243G mutation – by control-region sequencing and RFLP survey of their mtDNAs.</p></sec><sec><title>Results</title><p>The analysis revealed 111 different haplotypes encompassing all European haplogroups, indicating that the 3243 site might be a mutational hot spot. However, contrary to previous findings, we observed a statistically significant underepresentation of the A3243G mutation on haplogroup J in patients (p = 0.01, OR = 0.26, C.I. 95%: 0.08–0.83), suggesting that might be due to a strong negative selection at the embryo or germ line stages.</p></sec><sec><title>Conclusion</title><p>Thus, our study supports the existence of mutational hotspot on mtDNA and a "haplogroup J paradox," a haplogroup that may increase the expression of mtDNA pathogenic mutations, but also be beneficial in certain environmental contexts.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct></listBibl></div1></back></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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