Del genoma humano a su pangenoma pasando por los consorcios ENCODE y T2T
DOI:
https://doi.org/10.24310/enbio.v15i182.17114Palabras clave:
genoma humano, ENCODE, T2TResumen
Llevamos 21 años explotando un genoma humano quimérico lleno de huecos. Afortunadamente, sabemos que hay mucho más que genes codificantes gracias a que el consorcio ENCODE lo ha escudriñado a fondo. Entre los hallazgos más inesperados están que más del 75 % del genoma se transcribe, que cada gen sufre 6,3 tipos de ayuste alternativo y fabrica 4 transcritos distintos, que tenemos muchísimas regiones reguladoras repartidas por el genoma y, lo más sorprendente de todo, que desde el punto de vista transcripcional solo tenemos cinco tipos de células diferentes. En estos 21 años no solo hemos mejorado aquella primera secuencia y conocemos mejor para qué sirven las secuencias genómicas, sino que también hemos pasado de una secuenciación indiscriminada preamplificada de lecturas cortas (75 a 600 nt) a una secuenciación molécula a molécula que proporciona miles de bases contiguas. Gracias a ello se acaba de publicar el primer genoma humano completo (salvo el cromosoma Y), no quimérico y sin huecos, que está abriendo nuevas puertas a la genómica y la medicina, incluida la obtención del pangenoma humano que recoja toda la diversidad genética de nuestra especie.
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Borfitz, D (2022) Scientists Finally Finish The Quest For A Gapless Human Genome. BioIT World. [consulta 20-IV-22]
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2022-06-21
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Claros, M. G. (2022). Del genoma humano a su pangenoma pasando por los consorcios ENCODE y T2T. Encuentros En La Biología, 15(182), 23–33. https://doi.org/10.24310/enbio.v15i182.17114
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