{"id":25025,"date":"2019-12-09T00:00:29","date_gmt":"2019-12-09T08:00:29","guid":{"rendered":"https:\/\/vermont.salk.edu\/?post_type=disclosure&p=25025"},"modified":"2019-12-09T11:19:34","modified_gmt":"2019-12-09T19:19:34","slug":"finding-the-smallest-genes-could-yield-outsized-benefits","status":"publish","type":"disclosure","link":"https:\/\/www.salk.edu\/es\/news-release\/finding-the-smallest-genes-could-yield-outsized-benefits\/","title":{"rendered":"Encontrar los genes m\u00e1s peque\u00f1os podr\u00eda producir beneficios desproporcionados"},"content":{"rendered":"

LA JOLLA\u2014Si bien los cient\u00edficos conocen alrededor de 25,000 genes que codifican prote\u00ednas biol\u00f3gicamente importantes, genes adicionales y m\u00e1s peque\u00f1os ocultos en nuestro ADN podr\u00edan ser igual de importantes. Pero estas diminutas l\u00edneas de c\u00f3digo gen\u00e9tico han demostrado ser dif\u00edciles de rastrear.<\/p>\n

Un nuevo estudio del Instituto Salk identific\u00f3 m\u00e1s de 2.000 genes peque\u00f1os nuevos, expandiendo el n\u00famero de genes humanos en un 10 por ciento. Estos genes previamente desconocidos se conocen como marcos de lectura abiertos peque\u00f1os (smORFs), y los cient\u00edficos han desarrollado un m\u00e9todo para detectar estas importantes secuencias gen\u00e9ticas en l\u00edneas celulares humanas.<\/p>\n

\"This
Esta ilustraci\u00f3n representa el m\u00e9todo del laboratorio Saghatelian para encontrar genes conocidos como marcos de lectura abiertos peque\u00f1os (smORFs). Las \u201cmicroprote\u00ednas\u201d codificadas por smORFs se han relacionado con la funci\u00f3n inmunol\u00f3gica, el estr\u00e9s celular y muchos otros procesos celulares, lo que sugiere que la detecci\u00f3n de smORFs podr\u00eda conducir a los cient\u00edficos a nuevos biomarcadores y dianas farmacol\u00f3gicas para las enfermedades humanas.<\/p>\n

Haga clic aqu\u00ed<\/a> para obtener una imagen en alta resoluci\u00f3n.<\/p>\n

Cr\u00e9dito: Instituto Salk<\/figcaption><\/figure>\n

\u201cHemos expandido el genoma humano\u201d, dice el profesor de Salk Alan Saghatelian<\/a>, coautor correspondiente del estudio, publicado en Nature Chemical Biology<\/a><\/em> el **9 de diciembre de 2019**. \u201cEste trabajo realmente puede aplicarse para comprender mejor la biolog\u00eda humana y podr\u00eda tener implicaciones para enfermedades que van desde el c\u00e1ncer hasta la diabetes\u201d.\u201d<\/p>\n

En los \u00faltimos diez a\u00f1os, Saghatelian y sus colegas han estado desarrollando m\u00e9todos para identificar mejor los smORF que afectan la salud humana. Ya, las \u201cmicroprote\u00ednas\u201d codificadas por smORF se han relacionado con la funci\u00f3n inmunol\u00f3gica, el estr\u00e9s celular e incluso el desarrollo muscular temprano. Saghatelian dice que hay creciente evidencia de que la detecci\u00f3n de smORF podr\u00eda llevar a los cient\u00edficos a nuevos biomarcadores y objetivos de f\u00e1rmacos para enfermedades humanas.<\/p>\n

Thomas Mart\u00ednez, primer autor del estudio y becario posdoctoral en el laboratorio de Saghatelian, dirigi\u00f3 el proyecto para utilizar una t\u00e9cnica llamada Ribo-Seq con el fin de determinar qu\u00e9 smORF codificaban realmente prote\u00ednas en las c\u00e9lulas. Ribo-Seq se utiliza habitualmente para detectar la producci\u00f3n de prote\u00ednas de mayor tama\u00f1o, pero result\u00f3 ser menos fiable para detectar smORF. El equipo resolvi\u00f3 este problema optimizando el experimento para detectar los smORF de manera m\u00e1s confiable y obtener la estimaci\u00f3n m\u00e1s s\u00f3lida del n\u00famero de smORF en el genoma humano.<\/p>\n

\"From
De izquierda a derecha: Alan Saghatelian y Thomas Martinez<\/p>\n

Haga clic aqu\u00ed<\/a> para obtener una imagen en alta resoluci\u00f3n.<\/p>\n

Cr\u00e9dito: Instituto Salk<\/figcaption><\/figure>\n

El trabajo de Mart\u00ednez posibilit\u00f3 el hallazgo de smORFs en tres l\u00edneas celulares humanas, tomadas de leucemia, c\u00e1ncer de ovario y c\u00e9lulas de ri\u00f1\u00f3n inmortalizadas. Se encontraron alrededor de 7.500 smORFs en al menos una l\u00ednea celular. De estas, alrededor de 1.500 aparecieron en por lo menos dos l\u00edneas celulares y siguieron apareciendo cuando los investigadores repitieron sus experimentos. La reproducibilidad de los resultados dio a los cient\u00edficos la confianza de que estos genes reci\u00e9n detectados realmente exist\u00edan.<\/p>\n

\u201cPor fin contamos con informaci\u00f3n fiable de que el genoma humano contiene al menos entre 2.500 y 3.500 smORF\u201d, afirma Saghatelian.<\/p>\n

El reto ahora es determinar qu\u00e9 smORF est\u00e1n implicados en las enfermedades, y si las microprote\u00ednas que codifican podr\u00edan ser dianas terap\u00e9uticas. Los investigadores ya han identificado alrededor de 500 smORF que aparecen en las tres l\u00edneas celulares, lo que sugiere que podr\u00edan tener importantes funciones biol\u00f3gicas.<\/p>\n

\u201cEn este momento, nuestros m\u00e9todos pueden decirnos si un smORF existe o no existe, pero no nos dan mucha informaci\u00f3n sobre lo que est\u00e1 realmente relacionado con la enfermedad\u201d, dice Saghatelian. \u201cEn el futuro, el laboratorio comenzar\u00e1 a investigar m\u00e1s para encontrar smORFs que puedan ser espec\u00edficos de enfermedades como el c\u00e1ncer o la diabetes\u201d.\u201d<\/p>\n

Saghatelian dice que la ciencia de los smORF a\u00fan est\u00e1 en sus inicios, por lo que los investigadores esperan que otros laboratorios alrededor del mundo utilicen sus m\u00e9todos para buscar smORF en sus propias l\u00edneas celulares.<\/p>\n

\u201cSe trata realmente de un campo a\u00fan inexplorado\u201d, afirma Mart\u00ednez. \u201cAl fin y al cabo, lo que uno quiere saber es cu\u00e1les son todos los componentes del genoma\u201d.\u201d<\/p>\n

Otros autores del estudio incluyeron a Qian Chu, Cynthia Donaldson, Dan Tan y Maxim N. Shokhirev de Salk.<\/p>\n

La investigaci\u00f3n fue financiada por los National Institutes of Health (R01 GM102491, F32 GM123685), el Leona M. and Harry B. Helmsley Charitable Trust, la C\u00e1tedra Dr. Frederick Paulsen\/Ferring Pharmaceuticals, la George E. Hewitt Foundation for Medical Research y la Pioneer Fellowship. Este trabajo tambi\u00e9n fue financiado por el Razavi Newman Integrative Genomics and Bioinformatics Core y las Next Generation Sequencing Core Facilities del Salk Institute con fondos de los National Institutes of Health (P30 014195) y la Chapman Foundation.<\/p>","protected":false},"featured_media":0,"template":"","faculty":[111],"disease-research":[333],"class_list":["post-25025","disclosure","type-disclosure","status-publish","hentry","faculty-alan-saghatelian","disease-research-genetics"],"acf":[],"yoast_head":"\nFinding the smallest genes could yield outsized benefits - Salk Institute for Biological Studies<\/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:\/\/www.salk.edu\/es\/news-release\/finding-the-smallest-genes-could-yield-outsized-benefits\/\" \/>\n<meta property=\"og:locale\" content=\"es_MX\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Finding the smallest genes could yield outsized benefits - Salk Institute for Biological Studies\" \/>\n<meta property=\"og:description\" content=\"LA JOLLA\u2014While scientists know of about 25,000 genes that code for biologically important proteins, additional, smaller genes hiding in our DNA may be just as important. 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