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Following the Dynamics of Structural Variants in Experimentally Evolved Populations

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Los pangenomas de múltiples especies revelan una influencia generalizada del tamaño de la población en la variación

Scott V Edwards^1,2, Bohao Fang^1,2, Danielle Khost³

¹Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA, USA.

Science (New York, N.Y.)

|December 11, 2025

Resumen

El tamaño y la complejidad del genoma evolucionan rápidamente en los jays, influenciados por el tamaño de la población. Las variantes estructurales muestran una dinámica ligeramente dañina, con una adaptación que solo se observa en las poblaciones más grandes.

Área de la Ciencia:

La genómica
Biología evolutiva
Genómica comparada

Sus antecedentes:

Las variantes estructurales (SV) son comunes en los genomas de los vertebrados, pero su impacto evolutivo no se comprende bien.
El tamaño efectivo de la población es un factor clave en la dinámica evolutiva, pero su papel en la configuración de la arquitectura del genoma no está claro.

Objetivo del estudio:

Investigar la dinámica evolutiva de las variantes estructurales (SV) en los jacas de América del Norte.
Comprender cómo el tamaño efectivo de la población influye en la arquitectura y la complejidad del genoma.

Principales métodos:

Utilizó 45 ensamblajes de genoma de novo de larga lectura para tres especies estrechamente relacionadas.
Utilizó herramientas de pangénoma para analizar variantes estructurales entre especies con un rango de 55 veces el tamaño efectivo de la población.

Principales resultados:

Evolución rápida del genoma observada, incluida la reducción del tamaño del genoma de ~ 100 megabases impulsada por cambios en el paisaje satelital.
Se encontró que los SV exhiben una dinámica ligeramente perjudicial influenciada por la longitud de la variante y el tamaño de la población.
Identificación de la fijación adaptativa de SVs exclusivamente en la población más grande y una relación inversa entre las variantes del número de copias de genes y el tamaño de la población.

Conclusiones:

El tamaño de la población moldea significativamente la complejidad del genoma y la dinámica de las variantes estructurales.
La secuenciación de larga lectura y el análisis del pangénoma proporcionan poderosas ideas sobre la evolución del genoma en las poblaciones.

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