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Detection of Retrotransposition Activity of Hot LINE-1s by Long-Distance Inverse PCR
Published on: July 27, 2019
Paisaje de la retrotransposición somática en los cánceres humanos
Eunjung Lee1, Rebecca Iskow, Lixing Yang
1Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA.
Science (New York, N.Y.)
|June 30, 2012
Resumen
Los elementos transponibles (ET) pueden insertarse en el genoma humano, lo que podría conducir al cáncer. Este estudio encontró inserciones somáticas de TE en tumores epiteliales, que afectan la expresión génica y están vinculadas a la hipometilación del ADN.
Área de la Ciencia:
- La genómica es la genómica.
- Biología del cáncer Biología del cáncer.
- Genética molecular La genética molecular.
Sus antecedentes:
- Los elementos transponibles (ET) son secuencias móviles de ADN que prevalecen en el genoma humano.
- La actividad TE normalmente suprimida puede reactivarse en el cáncer, causando potencialmente mutaciones.
- La retrotransposición a través de intermediarios de ARN es un mecanismo clave para la propagación de TE.
Objetivo del estudio:
- Investigar la ocurrencia y el impacto de las inserciones de elementos somáticos transponibles en cánceres humanos.
- Para analizar las ubicaciones genómicas y las posibles consecuencias funcionales de estas inserciones.
- Para identificar patrones específicos del cáncer de la actividad de TE.
Principales métodos:
- Secuenciación del genoma completo (WGS) de 43 tumores en cinco tipos de cáncer.
- Análisis de resolución de un solo nucleótido de las inserciones de elementos transponibles.
- Comparación de las inserciones somáticas en tumores con las inserciones de la línea germinal en tejidos normales emparejados.
Principales resultados:
- Se identificaron 194 inserciones somáticas de TE de alta confianza en los genomas de cáncer analizados.
- Se detectaron inserciones somáticas de TE en tumores epiteliales, pero ausentes en cánceres de sangre y cerebro.
- Se encontraron inserciones somáticas de elemento nuclear intercalado largo 1 (L1) en genes asociados con el cáncer, que afectan la expresión génica y se correlacionan con regiones hipometiladas.
Conclusiones:
- Las inserciones somáticas de elementos transponibles, particularmente L1, son activas en ciertos cánceres humanos.
- Estas inserciones pueden interrumpir la función y la expresión de los genes, contribuyendo a la tumorigénesis.
- La actividad de TE está asociada con alteraciones epigenéticas específicas del cáncer como la hipometilación del ADN.
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