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La secuenciación del transcriptoma y el genoma descubre variaciones funcionales en los seres humanos.
Tuuli Lappalainen1, Michael Sammeth, Marc R Friedländer
1Department of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva, Switzerland. tuuli.e.lappalainen@gmail.com
Nature
|September 17, 2013
Resumen
Las variantes genéticas tienen un amplio impacto en la regulación y expresión de los genes, revelando los mecanismos detrás de los rasgos humanos y las enfermedades. Este estudio analiza los datos de secuenciación de ARN para mapear las variaciones genéticas funcionales en las poblaciones humanas.
Área de la Ciencia:
- La genómica es la genómica.
- La transcriptómica es el campo de la transcripción.
- Genética Humana Genética Humana.
Sus antecedentes:
- Millones de variantes genéticas se descubren a través de la secuenciación del genoma.
- La interpretación de los efectos funcionales de estas variantes es crucial para comprender la variación de los rasgos humanos.
- La secuenciación de ARN de alto rendimiento proporciona información sobre la expresión genética y la regulación.
Objetivo del estudio:
- Para analizar el ARN mensajero (ARNm) y el microARN (ARNmi) de las líneas celulares linfoblastoides de 462 individuos.
- Para caracterizar la variación genética generalizada que afecta a la regulación y la expresión de los genes.
- Para inferir variantes causales para los loci asociados a la enfermedad.
Principales métodos:
- Secuenciación y análisis profundo de ARNm y ARNm.
- Utilizando datos de secuenciación de ARN de alto rendimiento y procesados uniformemente del Proyecto 1000 Genomas.
- Integración de datos de secuenciación de ARN con secuencias de genoma humano de alta calidad.
Principales resultados:
- Descubrimiento de una variación genética extremadamente extendida que afecta la regulación de la mayoría de los genes.
- Identificación de variaciones comunes pero genéticamente independientes en la estructura de la transcripción y los niveles de expresión.
- Caracterización de la variación reguladora causal, iluminando los mecanismos celulares.
- Inferencia de variantes causales putativas para numerosas localizaciones asociadas a enfermedades.
Conclusiones:
- La variación genética afecta significativamente la regulación y la expresión del transcriptoma en todas las poblaciones humanas.
- El estudio mejora la comprensión de los mecanismos celulares subyacentes a las variaciones regulatorias y de pérdida de función.
- Proporciona un panorama completo de las variantes funcionales en el genoma humano.
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