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Un compendio de firmas mutacionales de agentes ambientales

Jill E Kucab¹, Xueqing Zou², Sandro Morganella³

¹Department of Analytical, Environmental and Forensic Sciences, MRC-PHE Centre for Environment and Health, King's College London, 150 Stamford Street, London SE1 9NH, UK.

|April 16, 2019

Resumen

Los carcinógenos ambientales causan patrones de mutación de ADN distintos en las células madre humanas. Este estudio identifica firmas mutacionales específicas, revelando mecanismos de reparación celular y la vulnerabilidad directa del ADN humano a los agentes ambientales.

Área de la Ciencia:

La genómica
Salud del medio ambiente
Investigación del cáncer

Sus antecedentes:

La secuenciación de todo el genoma (WGS) de tumores humanos revela patrones de mutación relacionados con los orígenes del cáncer.
Comprender las exposiciones ambientales es crucial para identificar los agentes cancerígenos.

Objetivo del estudio:

Investigar las firmas mutacionales en células madre humanas expuestas a carcinógenos ambientales.
Caracterizar las vías de reparación del ADN involucradas en la resolución del daño inducido por los mutágenos.

Principales métodos:

Secuenciación del genoma completo (WGS) de 324 líneas de células madre pluripotentes inducidas por el hombre.
Exposición de las células madre a 79 carcinógenos ambientales conocidos o sospechosos.
Análisis de las firmas mutacionales, incluidas las sustituciones, las dobles sustituciones y las inserciones/deleciones (indels).

Principales resultados:

Cuarenta y un carcinógenos indujeron firmas mutacionales de sustitución características, algunas que reflejan las de los tumores humanos.
Seis agentes produjeron firmas de doble sustitución, y ocho produjeron firmas indel.
El análisis de la asimetría de la mutación confirmó el desajuste funcional y las vías de reparación de ADN acopladas a la transcripción.

Conclusiones:

Los mutágenos ambientales inducen diversas firmas mutacionales en las células madre humanas a través de varias vías de reparación.
Este compendio ayuda a explorar los factores ambientales en la etiología del cáncer.
El ADN de las células madre humanas es directamente vulnerable a los agentes ambientales.

Palabras clave:

Daño en el ADN Las firmas mutacionales Carcinógenos Los agentes mutagénicos ambientales Mutagénesis

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