{"id":14020,"date":"2020-04-16T13:41:07","date_gmt":"2020-04-16T11:41:07","guid":{"rendered":"https:\/\/ellipse.prbb.org\/?p=14020"},"modified":"2020-04-16T13:42:24","modified_gmt":"2020-04-16T11:42:24","slug":"lestudi-de-les-oscil%c2%b7lacions-genetiques-del-rellotge-de-segmentacio-ajuda-a-comprendre-una-malaltia-de-les-vertebres","status":"publish","type":"post","link":"https:\/\/ellipse.prbb.org\/ca\/lestudi-de-les-oscil%c2%b7lacions-genetiques-del-rellotge-de-segmentacio-ajuda-a-comprendre-una-malaltia-de-les-vertebres\/","title":{"rendered":"L&#8217;estudi de les oscil\u00b7lacions gen\u00e8tiques del rellotge de segmentaci\u00f3 ajuda a comprendre una malaltia de les v\u00e8rtebres"},"content":{"rendered":"<p>Mitsuhiro Matsuda, dirigit per <a href=\"https:\/\/ellipse.prbb.org\/ca\/miki-ebisuya-embl-barcelona-investigar-es-un-privilegi-puc-dedicar-la-meva-vida-a-estudiar-el-que-em-fascina\/\" target=\"_blank\" rel=\"noopener\">Miki Ebisuya<\/a>\u00a0al\u00a0<a href=\"https:\/\/www.embl.es\/\" target=\"_blank\" rel=\"noopener\">Laboratori Europeu de Biologia Molecular \u2013 Barcelona (EMBL Barcelona),<\/a>\u00a0ha col\u00b7laborat amb companys i companyes de diverses institucions japoneses per a\u00a0<strong>recapitular\u00a0<em>in vitro<\/em> el mecanisme gen\u00e8tic subjacent a les estructures peri\u00f2diques de la nostra columna vertebral<\/strong>.<\/p>\n<p>L&#8217;expressi\u00f3 d&#8217;aquest grup de gens, coneguts com a\u00a0<a href=\"https:\/\/ellipse.prbb.org\/ca\/recreant-la-biologia-del-desenvolupament-en-una-placa-de-petri\/\" target=\"_blank\" rel=\"noopener\">\u00ab<strong>rellotge de segmentaci\u00f3<\/strong>\u00ab, oscil\u00b7la durant el desenvolupament embrionari<\/a>, amb una activitat gen\u00e8tica que augmenta i disminueix en un patr\u00f3 regular en el temps (veure v\u00eddeo). En cada oscil\u00b7laci\u00f3, es forma un nou somita, els predecessors de les v\u00e8rtebres i costelles.\u00a0<strong>Errors al rellotge de segmentaci\u00f3 poden provocar trastorns hereditaris de les v\u00e8rtebres<\/strong>, tals com la disostosi espondilocostal (SCD).<\/p>\n<p>&nbsp;<\/p>\n<p><iframe loading=\"lazy\" width=\"1170\" height=\"878\" src=\"https:\/\/www.youtube.com\/embed\/emWeLjgNzM8?feature=oembed\" frameborder=\"0\" allow=\"accelerometer; autoplay; encrypted-media; gyroscope; picture-in-picture\" allowfullscreen><\/iframe><\/p>\n<p>&nbsp;<\/p>\n<p>Els i les investigadores van crear l\u00ednies cel\u00b7lulars a les que els mancaven un dels gens conegut per causar SCD\u00a0\u2013\u00a0<em>HES7<\/em>,\u00a0<em>DLL3<\/em>\u00a0o\u00a0<em>LFNG <\/em>\u2013 i van observar que les oscil\u00b7lacions gen\u00e8tiques no tenien lloc o no es coordinaven correctament al llarg del teixit per formar les ones viatgeres habituals de l&#8217;activitat gen\u00e8tica. Despr\u00e9s van verificar que el mateix succe\u00efa amb c\u00e8l\u00b7lules de pacients reals (amb DLL3 mutat), i finalment van utilitzar l&#8217;eina d&#8217;edici\u00f3 gen\u00e8tica <a href=\"https:\/\/ellipse.prbb.org\/ca\/francisco-j-m-mojica-estic-molt-orgullos-dhaver-estat-part-de-la-revolucio-de-crispr\/\" target=\"_blank\" rel=\"noopener\">CRISPR<\/a>-Cas9 per a corregir la mutaci\u00f3 del pacient, demostrant que aquesta mutaci\u00f3 era responsable de l&#8217;asincronia del rellotge de segmentaci\u00f3.<\/p>\n<p>Podeu llegir m\u00e9s sobre aquest estudi a la <a href=\"https:\/\/www.embl.org\/news\/science\/tissue-dynamics-provide-clues-to-human-disease\/\" target=\"_blank\" rel=\"noopener\">p\u00e0gina web de l&#8217;EMBL<\/a>.<\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Un nou estudi recapitula al laboratori els patrons oscil\u00b7lants d&#8217;expressi\u00f3 g\u00e8nica que es coordinen a trav\u00e9s del temps i l&#8217;espai dins un teixit per donar lloc a la disposici\u00f3 peri\u00f2dica de la columna vertebral.<\/p>\n","protected":false},"author":9,"featured_media":14008,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[26],"tags":[307,277,564,279],"new-type":[35],"class_list":["post-14020","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-recerca","tag-biologia-sintetica","tag-desenvolupament","tag-edicio-genomica","tag-embl-barcelona-ca","new-type-noticies"],"acf":[],"_links":{"self":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/14020","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/users\/9"}],"replies":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/comments?post=14020"}],"version-history":[{"count":5,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/14020\/revisions"}],"predecessor-version":[{"id":14039,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/14020\/revisions\/14039"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/media\/14008"}],"wp:attachment":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/media?parent=14020"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/categories?post=14020"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/tags?post=14020"},{"taxonomy":"new-type","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/new-type?post=14020"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}