{"id":2012,"date":"2017-07-24T15:07:17","date_gmt":"2017-07-24T19:07:17","guid":{"rendered":"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/?page_id=2012"},"modified":"2018-03-15T09:08:53","modified_gmt":"2018-03-15T12:08:53","slug":"rol-del-adn-mitocondrial","status":"publish","type":"page","link":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/rol-del-adn-mitocondrial\/","title":{"rendered":"Rol del ADN mitocondrial"},"content":{"rendered":"<p><a href=\"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/rol-ADN-mitocondrial.jpg\" rel=\"attachment wp-att-2013\"><img loading=\"lazy\" decoding=\"async\" class=\"size-medium wp-image-2013 aligncenter\" src=\"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/rol-ADN-mitocondrial-300x201.jpg\" alt=\"rol ADN mitocondrial\" width=\"300\" height=\"201\" srcset=\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/rol-ADN-mitocondrial-300x201.jpg 300w, https:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/rol-ADN-mitocondrial.jpg 346w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<h5><strong>DESCRIPCI\u00d3N<\/strong><\/h5>\n<p style=\"text-align: justify;\">El genoma humano est\u00e1 compuesto por 23 pares de cromosomas localizados en el n\u00facleo, y m\u00faltiples copias del ADN mitocondrial, una mol\u00e9cula de ADN circular altamente especializada la cual es heredada de la madre solamente.<\/p>\n<p style=\"text-align: justify;\">La interacci\u00f3n gen\u00e9tica entre los 23 cromosomas nucleares y el ADN mitocondrial es fundamental para garantizar el correcto funcionamiento celular. Las enfermedades mitocondriales ocurren con una frecuencia de 1 en 4.000 personas, causadas tanto por defectos en el ADN nuclear como en el ADN mitocondrial.<\/p>\n<p style=\"text-align: justify;\">En este proyecto nos enfocamos en cuantificar la variabilidad del genoma mitocondrial en enfermedades poco frecuentes, en particular, en el s\u00edndrome causado por la deleci\u00f3n 22q11.2, para determinar su contribuci\u00f3n al fenotipo del paciente.<\/p>\n<h5><strong>EQUIPO<\/strong><\/h5>\n<p>[persona id=\u00bb893&#8243; align=\u00bbalignleft\u00bb]\u00a0[persona id=\u00bb1824&#8243; align=\u00bbalignleft\u00bb]<\/p>\n<h5><strong>COLABORADORES<\/strong><\/h5>\n<ul>\n<li>Anton Nekrutenko, Pennsylvania State University, USA<\/li>\n<li>Kateryna Makova, Pennsylvania State University, USA<\/li>\n<\/ul>\n<h5><strong>FINANCIAMIENTO<\/strong><\/h5>\n<p>FONDECYT de postdoctorado 2017 N\u00ba 3170280. Contribution of mitochondrial DNA heteroplasmy to the phenotype of patients with maternally transmitted 22q11.2 deletion syndrome (velocardiofacial syndrome). [2017-2020]<\/p>\n<h5><strong>PUBLICACIONES<\/strong><\/h5>\n<ol>\n<li>Rebolledo-Jaramillo B*, Su MS*, McElhoe J, Stoller N, Dickins B, Korneliussen T, Nielsen R, Holland M, Paul I, Nekrutenko A, Makova KD. (2014) <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4217420\/\">Maternal Age Effect and Severe Germline Bottleneck in the Inheritance of Human Mitochondrial DNA<\/a>. [*Equal contribution] PNAS 111(43):15474<\/li>\n<li>Dickins B*, Rebolledo-Jaramillo B*, Shu-Wei S, Paul IM, Blankenberg D, Stoler N, Makova KD, Nekrutenko A. (2014). Controlling for contamination in resequencing studies with a reproducible web-based phylogenetic approach. [*Equal contribution] BioTechniques, 56(3):134<\/li>\n<li>Bar-Yaacov D, Avital G, Levin L, Richards A, Hachen N, Rebolledo-Jaramillo B, Nekrutenko A, Zarivach R, Mishmar D. (2013). <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3814879\/\">RNA-DNA differences in human mitochondria restore ancestral form of 16S ribosomal RNA<\/a>. Genome Res. 23(11):1789-96<\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"<p>DESCRIPCI\u00d3N El genoma humano est\u00e1 compuesto por 23 pares de cromosomas localizados en el n\u00facleo, y m\u00faltiples copias del ADN mitocondrial, una mol\u00e9cula de ADN circular altamente especializada la cual es heredada de la madre solamente. La interacci\u00f3n gen\u00e9tica entre los 23 cromosomas nucleares y el ADN mitocondrial es fundamental para garantizar el correcto funcionamiento [&hellip;]<\/p>\n","protected":false},"author":42,"featured_media":0,"parent":27,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"template-wide-content.php","meta":{"footnotes":""},"class_list":["post-2012","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.9 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Rol del ADN mitocondrial - Centro de Gen\u00e9tica y Gen\u00f3mica<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/rol-del-adn-mitocondrial\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Rol del ADN mitocondrial - Centro de Gen\u00e9tica y Gen\u00f3mica\" \/>\n<meta property=\"og:description\" content=\"DESCRIPCI\u00d3N El genoma humano est\u00e1 compuesto por 23 pares de cromosomas localizados en el n\u00facleo, y m\u00faltiples copias del ADN mitocondrial, una mol\u00e9cula de ADN circular altamente especializada la cual es heredada de la madre solamente. 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