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Filogenias extensas del desarrollo humano inferidas de mutaciones somáticas

Tim H H Coorens¹, Luiza Moore^1,2, Philip S Robinson^1,3

¹Wellcome Sanger Institute, Hinxton, UK.

|August 26, 2021

Resumen

Las células del cuerpo humano acumulan mutaciones, actuando como marcadores de rastreo de linaje. La división celular embrionaria temprana muestra una asimetría significativa, que varía entre los individuos y los tejidos, lo que afecta el desarrollo adulto y los orígenes de la línea germinal.

Área de la Ciencia:

Biología del desarrollo
La genómica
Fisiología humana

Sus antecedentes:

Las mutaciones somáticas se acumulan a lo largo de la vida, originadas en el cigoto.
Las mutaciones compartidas sirven como marcadores naturales para rastrear linajes celulares.
Comprender el desarrollo humano temprano y el patrón de los tejidos es crucial.

Objetivo del estudio:

Para reconstruir las filogenias humanas usando mutaciones somáticas.
Investigar el alcance de la asimetría del desarrollo en la embriogénesis humana temprana.
Explorar los orígenes de las células germinales primordiales y la división del desarrollo de la línea germinal.

Principales métodos:

Secuenciación de todo el genoma de 511 microdisecciones de captura láser de tejidos normales de tres individuos adultos.
Reconstrucción filogenética para inferir relaciones de linaje e historia del desarrollo.
Análisis de patrones de mutación para determinar las contribuciones celulares y la organización espacial de los tejidos.

Principales resultados:

Las filogenias extensas revelaron una asimetría significativa en las contribuciones celulares embrionarias a los tejidos adultos, con relaciones de células hijas del cigoto que oscilan entre 60:40 y 93:7.
Se observaron asimetrías de desarrollo que impregnan generaciones celulares posteriores y varían entre diferentes tejidos dentro del mismo individuo.
El análisis filogenético resolvió el patrón embrionario espacial, identificando parches de tejido contiguos derivados de progenitores embrionarios individuales y sugiriendo una contribución extraembrionaria a las células germinales primordiales.

Conclusiones:

La división celular embrionaria temprana exhibe una asimetría sustancial y variable, que influye en la composición y el patrón del tejido adulto.
El compromiso de linaje y los cuellos de botella del desarrollo durante la embriogénesis conducen a variaciones significativas en los patrones de desarrollo dentro y entre los individuos.
Las filogenias basadas en mutaciones somáticas proporcionan una herramienta poderosa para reconstruir la historia del desarrollo y comprender el desarrollo de los tejidos humanos.

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