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La poliadenilación intrónica generalizada inactiva los genes supresores de tumores en la leucemia
Shih-Han Lee1, Irtisha Singh2,3, Sarah Tisdale1
1Cancer Biology and Genetics Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Nature
|August 29, 2018
Resumen
El procesamiento aberrante del ARN mensajero (ARNm), específicamente la poliadenilación intrónica, inactiva los genes supresores de tumores en la leucemia linfocítica crónica (LLC). Este evento de ARNm es más común que las mutaciones genéticas en la conducción de la progresión del cáncer.
Área de la Ciencia:
- Biología molecular
- Genómica del cáncer
- Las transcripciones
Sus antecedentes:
- Las mutaciones en el ADN son factores establecidos del desarrollo del cáncer.
- El papel de los eventos de ARN en la imitación de alteraciones genéticas en el cáncer sigue siendo objeto de investigación.
Objetivo del estudio:
- Investigar si los eventos de ARNm regulados hacia arriba en el cáncer pueden replicar funcionalmente las alteraciones genéticas.
- Explorar la prevalencia y el impacto de la poliadenilación intrónica en la leucemia linfocítica crónica (LLC).
Principales métodos:
- Se realizó la secuenciación del ARN y la secuenciación del 3'-end en células B normales y malignas de 59 pacientes con CLL.
- El análisis se centró en la identificación de eventos de ARNm regulados al alza, particularmente los resultantes de la poliadenilación intrónica.
Principales resultados:
- Se descubrió una amplia regulación al alza de los ARNm y proteínas truncadas debido a la poliadenilación intrónica en las células primarias de CLL.
- Estos eventos de ARNm aberrantes afectaron a 330 genes recurrentes, predominantemente aquellos con funciones supresoras del tumor.
- Las proteínas truncadas a menudo perdieron funciones supresoras de tumores o adquirieron propiedades oncogénicas, impactando en genes como DICER, FOXN3, CARD11, MGA y CHST11.
Conclusiones:
- El procesamiento aberrante de ARNm, específicamente la poliadenilación intrónica, es un mecanismo más frecuente para la inactivación del gen supresor tumoral en la LLC que los eventos genéticos.
- Se identificaron nuevos genes supresores de tumores candidatos inactivados por poliadenilación intrónica en leucemia y mutaciones de ADN en tumores sólidos.
- Los hallazgos destacan la necesidad de analizar eventos de ARNm más allá de los datos genómicos para el diagnóstico integral del cáncer y la comprensión de la patogénesis.
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