{"id":36871,"date":"2023-06-08T16:21:48","date_gmt":"2023-06-08T14:21:48","guid":{"rendered":"https:\/\/ellipse.prbb.org\/?p=36871"},"modified":"2023-06-08T16:21:49","modified_gmt":"2023-06-08T14:21:49","slug":"el-cataleg-genomic-de-mamifers-i-primats-mes-complet-fins-avui-en-dia","status":"publish","type":"post","link":"https:\/\/ellipse.prbb.org\/ca\/el-cataleg-genomic-de-mamifers-i-primats-mes-complet-fins-avui-en-dia\/","title":{"rendered":"El cat\u00e0leg gen\u00f2mic de mam\u00edfers i primats m\u00e9s complet fins avui en dia"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">El\u202f<strong>Consorci\u202f<a rel=\"noreferrer noopener\" href=\"https:\/\/zoonomiaproject.org\/\" target=\"_blank\">Zoonomia<\/a><\/strong>, format per <strong>37 grups de recerca internacionals<\/strong> i en el que hi participen l\u2019<a rel=\"noreferrer noopener\" href=\"https:\/\/www.ibe.upf-csic.es\/\" target=\"_blank\">Institut de Biologia Evolutiva (IBE: CSIC-UPF)<\/a> i la\u202f<a href=\"https:\/\/upf.edu\/\">Universitat Pompeu Fabra<\/a>, t\u00e9 com a objectiu construir la<strong> base de dades gen\u00f2mica d\u2019animals m\u00e9s completa i detallada fins ara<\/strong>. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Recentment\u202fhan publicat els seus resultats en <strong>dues edicions especials de la revista <em>Science<\/em><\/strong>.&nbsp;<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>A <a rel=\"noreferrer noopener\" href=\"https:\/\/www.science.org\/toc\/science\/380\/6643\" target=\"_blank\">la primera, publicada a finals d\u2019abril<\/a>, s\u2019hi van incloure onze estudis basats en la seq\u00fcenciaci\u00f3 i comparaci\u00f3 de <strong>240 esp\u00e8cies de mam\u00edfers<\/strong> \u2013 4 vegades m\u00e9s de les que es tenien fins ara. Aix\u00f2 va ser possible gr\u00e0cies a <strong>mostres d\u2019ADN recol\u00b7lectades per m\u00e9s de\u202f50 institucions diferents a&nbsp;tot el m\u00f3n<\/strong>.&nbsp;<br><\/li><li>La <a rel=\"noreferrer noopener\" href=\"https:\/\/www.science.org\/toc\/science\/380\/6648\" target=\"_blank\">segona edici\u00f3, publicada ara al juny<\/a>, s\u2019ha enfocat espec\u00edficament en els <strong>primats<\/strong>, i inclou informaci\u00f3 de<strong> 233 esp\u00e8cies<\/strong> dels nostres parents m\u00e9s propers \u2013 quasi la meitat de les existents.&nbsp;<\/li><\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><a rel=\"noreferrer noopener\" href=\"https:\/\/ellipse.prbb.org\/ca\/contra-natura-un-llibre-darcadi-navarro\/\" target=\"_blank\"><strong>Arcadi Navarro<\/strong><\/a>\u202fi\u202f<a rel=\"noreferrer noopener\" href=\"https:\/\/ellipse.prbb.org\/ca\/tomas-marques-bonet-ibe-coneixer-la-diversitat-genetica-de-les-especies-es-crucial-per-preservar-la\/\" target=\"_blank\"><strong>Tom\u00e0s Marqu\u00e9s-Bonet<\/strong><\/a>, professors d\u2019investigaci\u00f3\u202fICREA, catedr\u00e0tics a la UPF i investigadors de l\u2019IBE, han estat involucrats i han co-dirigit alguns dels estudis de totes dues col\u00b7leccions.&nbsp;<\/p>\n\n\n\n<div style=\"height:48px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div class=\"wp-block-image\"><figure class=\"aligncenter size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"523\" height=\"307\" src=\"https:\/\/ellipse.prbb.org\/wp-content\/uploads\/2023\/06\/gent.png\" alt=\"\" class=\"wp-image-36885\" srcset=\"https:\/\/ellipse.prbb.org\/wp-content\/uploads\/2023\/06\/gent.png 523w, https:\/\/ellipse.prbb.org\/wp-content\/uploads\/2023\/06\/gent-382x224.png 382w\" sizes=\"auto, (max-width: 523px) 100vw, 523px\" \/><figcaption><em>Tom\u00e0s Marqu\u00e8s-Bonet, Alejandro Valenzuela, David Juan, Esther Lizano i Arcadi Navarro han participat en els estudis. Cr\u00e8dit: IBE i UPF.<\/em><\/figcaption><\/figure><\/div>\n\n\n\n<div style=\"height:48px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Comparaci\u00f3 de mam\u00edfers<\/strong>&nbsp;<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Els mam\u00edfers s\u00f3n el grup d\u2019animals m\u00e9s divers.&nbsp;Tot i aix\u00ed, <a rel=\"noreferrer noopener\" href=\"https:\/\/www.ibe.upf-csic.es\/home\/-\/asset_publisher\/T2caeLMECPvW\/content\/the-genome-of-240-mammal-species-reveals-what-makes-the-human-genome-unique\/maximized\" target=\"_blank\">la <strong>comparaci\u00f3 <\/strong>de les seq\u00fc\u00e8ncies del genom<\/a><a href=\"https:\/\/www.ibe.upf-csic.es\/home\/-\/asset_publisher\/T2caeLMECPvW\/content\/the-genome-of-240-mammal-species-reveals-what-makes-the-human-genome-unique\/maximized\" target=\"_blank\" rel=\"noreferrer noopener\">a<\/a><a rel=\"noreferrer noopener\" href=\"https:\/\/www.ibe.upf-csic.es\/home\/-\/asset_publisher\/T2caeLMECPvW\/content\/the-genome-of-240-mammal-species-reveals-what-makes-the-human-genome-unique\/maximized\" target=\"_blank\"> de <strong>240 esp\u00e8cies de mam\u00edfers<\/strong> <\/a>ha perm\u00e8s detectar dotzenes de <strong>regions altament conservades<\/strong>\u202fentre esp\u00e8cies \u2013 regions que no han variat en milions d\u2019anys d\u2019evoluci\u00f3, el que implica que serien de <strong>vital import\u00e0ncia<\/strong>. &nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Aquestes regions no contenen gens, sin\u00f3 que s\u00f3n <strong>regions <em>reguladores <\/em>de l\u2019ADN<\/strong>. I a difer\u00e8ncia de les regions que codifiquen per prote\u00efnes i que estan molt marcades amb un principi i un final, les regions reguladores s\u00f3n encara for\u00e7a desconegudes i dif\u00edcils d\u2019identificar.&nbsp;&nbsp;<\/p>\n\n\n\n<div style=\"height:40px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\"><p>\u201cLes regions reguladores nom\u00e9s es poden detectar de manera sistem\u00e0tica comparant els genomes de diferents esp\u00e8cies i observant la seva evoluci\u00f3. Si es conserven \u00e9s perqu\u00e8 tenen alguna utilitat; si desapareixen \u00e9s perque no\u202fsuposaven\u202funa avantatge evolutiva\u201d<br><strong>Arcadi Navarro <\/strong>(IBE)<\/p><\/blockquote>\n\n\n\n<div style=\"height:40px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"wp-block-paragraph\">En efecte, segons aquests estudis, <strong>al menys un 10% del genoma es conserva entre especies de mam\u00edfers<\/strong>: m\u00e9s de\u202f4.500 elements quasi perfectament conservats\u202fen el genoma del\u202f98% de les esp\u00e8cies estudiades.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">El consorci ha utilitzat <strong>intel\u00b7lig\u00e8ncia artificial<\/strong> per vincular algunes d\u2019aquestes regions conservades amb car\u00e0cters fonamentals, com la mida del cervell. Altres de les regions m\u00e9s conservades estan involucrades en el\u202fdesenvolupament embrionari\u202fo la\u202fregulaci\u00f3 gen\u00e8tica. Les que m\u00e9s canvien, per altra banda, estan vinculades amb la relaci\u00f3 amb l\u2019ambient: la\u202fresposta immune, la pell, l\u2019olfacte o el gust.&nbsp;&nbsp;<\/p>\n\n\n\n<div style=\"height:45px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Primats: nova finestra a l\u2019evoluci\u00f3 i malaties humanes&nbsp;<\/strong>&nbsp;<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><a rel=\"noreferrer noopener\" href=\"https:\/\/www.ibe.upf-csic.es\/home\/-\/asset_publisher\/T2caeLMECPvW\/content\/primates-dna-highlights-applications-for-human-health\/maximized\" target=\"_blank\">Pel que fa a la col\u00b7lecci\u00f3 dels primats<\/a>, hi han participat grups investigadors de m\u00e9s de 24 pa\u00efsos. Dels 4 estudis resultants, tres han estat <strong>co-dirigits des de l\u2019IBE i la UPF<\/strong>, en col\u00b7laboraci\u00f3 amb <strong>Illumina <\/strong>i la <strong>Facultat de Medicina de Baylor als Estats Units<\/strong>. A m\u00e9s, <strong>el 80% dels genomes seq\u00fcenciats ho han estat al Centre Nacional d&#8217;An\u00e0lisi Gen\u00f2mica (CNAG)<\/strong>, tamb\u00e9 a Barcelona.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Aquestes dades gen\u00f2miques de primats serviran <a rel=\"noreferrer noopener\" href=\"https:\/\/ellipse.prbb.org\/ca\/claudia-fontsere-alemany-ibe-la-genomica-es-una-eina-fenomenal-per-estudiar-com-les-especies-han-canviat-al-llarg-del-temps\/\" target=\"_blank\">per entendre millor <strong>l\u2019evoluci\u00f3 i biodiversitat<\/strong> <\/a>d\u2019aquest subgrup animal, i donaran pistes sobre quines<em> <\/em>esp\u00e8cies necessiten m\u00e9s urgentment <a rel=\"noreferrer noopener\" href=\"https:\/\/ellipse.prbb.org\/ca\/biodiversity-genomics-europe-una-empenta-a-la-conservacio-de-la-biodiversitat-a-europa\/\" target=\"_blank\">esfor\u00e7os de conservaci\u00f3<\/a> (ja que m\u00e9s del 60% de les esp\u00e8cies de primats estan en perill d\u2019extinci\u00f3).&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Per\u00f2 tamb\u00e9 s\u00f3n una porta oberta a <strong>entendre millor les malalties humanes<\/strong>, gr\u00e0cies tamb\u00e9 a un <strong><a rel=\"noreferrer noopener\" href=\"https:\/\/ellipse.prbb.org\/ca\/data-science-meet-up-sobre-els-biaixos-de-la-ia-en-biomedicina-i-salut\/\" target=\"_blank\">algorisme d\u2019intel\u00b7lig\u00e8ncia artificial<\/a><\/strong>, <strong>PrimateAI-3D<\/strong>,&nbsp;que ha estat desenvolupat per l\u2019empresa de secuenciaci\u00f3 d\u2019ADN Illumina. Aquest algoritme seria una mena ChatGPT que utilitza el llenguatge gen\u00e8tic (l\u2019ADN) enlloc del llenguatge hum\u00e0.&nbsp;<\/p>\n\n\n\n<div style=\"height:34px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\"><p>La comparaci\u00f3 dels genomes de 233 esp\u00e8cies de primats amb el genoma hum\u00e0 pot ajudar a identificar les variants gen\u00e8tiques clau en moltes malalties humanes.<\/p><\/blockquote>\n\n\n\n<div style=\"height:34px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"wp-block-paragraph\">La comparaci\u00f3 de tots els genomes ha identificat <strong>4,3 milions de mutacions <\/strong>que poden alterar la funci\u00f3 de las prote\u00efnes. Aquestes&nbsp;podrien servir de base per estudiar i <strong><a href=\"https:\/\/ellipse.prbb.org\/ca\/no-totes-les-mutacions-son-dolentes-generen-varietat\/\" target=\"_blank\" rel=\"noreferrer noopener\">identificar les variants clau en moltes malalties humanes<\/a><\/strong>, en les que un grup de mutacions d\u2019efecte \u00ablleu\u00bb actuen conjuntament per causar una malaltia complexa, com el <a href=\"https:\/\/ellipse.prbb.org\/ca\/detectar-el-cancer-de-forma-precoc-per-nomes-50e\/\" target=\"_blank\" rel=\"noreferrer noopener\">c\u00e0ncer <\/a>o la <a href=\"https:\/\/ellipse.prbb.org\/ca\/descobert-un-estabilitzador-genomic-que-regula-un-gen-de-la-diabetis\/\" target=\"_blank\" rel=\"noreferrer noopener\">diabetis<\/a>.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">El nou cat\u00e0leg ha servit tamb\u00e9 per mostrar que moltes de les que es consideraven innovacions gen\u00f2miques exclusives dels humans tamb\u00e9 apareixen en altres primats. Aix\u00f2 ajudar\u00e0 a <strong>identificar millor <\/strong>quines s\u00f3n les <strong>caracter\u00edstiques gen\u00e8tiques que ens fan humans <\/strong>i com han evolucionat.&nbsp;&nbsp;<\/p>\n\n\n\n<div style=\"height:100px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n","protected":false},"excerpt":{"rendered":"<p>Dues col\u00b7leccions d&#8217;articles de grans consorcis internacionals\u202fpresenten els genomes de centenars de mam\u00edfers i de centenars de primats, respectivament. Un recurs que permetr\u00e0 entendre millor la nostra evoluci\u00f3, les enfermetats humanes i la conservaci\u00f3 de la biodiversitat. <\/p>\n","protected":false},"author":6,"featured_media":36888,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[26],"tags":[259,283,289,706,211,358],"new-type":[35],"class_list":["post-36871","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-recerca","tag-biodiversitat","tag-evolucio","tag-genoma","tag-genomica","tag-ibe-csic-upf","tag-upf-ca","new-type-noticies"],"acf":[],"_links":{"self":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/36871","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\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/comments?post=36871"}],"version-history":[{"count":19,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/36871\/revisions"}],"predecessor-version":[{"id":36902,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/36871\/revisions\/36902"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/media\/36888"}],"wp:attachment":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/media?parent=36871"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/categories?post=36871"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/tags?post=36871"},{"taxonomy":"new-type","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/new-type?post=36871"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}