Video Experimental Relacionado

Updated: May 16, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

El análisis de 6.515 exomas revela el origen reciente de la mayoría de las variantes codificantes de proteínas

Wenqing Fu¹, Timothy D O'Connor, Goo Jun

¹Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA. wqfu@u.washington.edu

|December 4, 2012

Resumen

La mayoría de las mutaciones que codifican las proteínas humanas surgieron recientemente, en los últimos 10.000 años. Los genes de las enfermedades llevan desproporcionadamente variantes de nucleótido único (SNV) más jóvenes y dañinas, lo que afecta la evolución humana y el descubrimiento de genes de enfermedades.

Área de la Ciencia:

Genética evolutiva del hombre Genética evolutiva del hombre.
Genética de la población Genética de la población.
La genómica es la genómica.

Sus antecedentes:

Comprender la historia evolutiva humana requiere la datación de las mutaciones genéticas.
El reciente crecimiento de la población sugiere que muchas mutaciones son evolutivamente jóvenes.
La identificación de las edades de las mutaciones ayuda al descubrimiento de genes de enfermedades.

Objetivo del estudio:

Evaluar cuantitativamente la distribución por edad de las mutaciones en poblaciones humanas.
Investigar el impacto de la historia humana reciente en la variación genética.
Para proporcionar ideas para el descubrimiento de genes de enfermedades.

Principales métodos:

La re-secuenciación de 15.336 genes en 6.515 personas.
Inferencia de edades para 1.146.401 variantes autosómicas de un solo nucleótido (SNV).
Comparación de las edades y frecuencias de las variantes entre grupos ancestrales y tipos de genes.

Principales resultados:

Aproximadamente el 73% de los SNV que codifican proteínas y el 86% de los SNV dañinos surgieron en los últimos 5.000 a 10.000 años.
Los SNVs dañinos son más jóvenes en promedio en los genes de la enfermedad en comparación con otros genes.
Los estadounidenses de origen europeo mostraron un exceso de variantes dañinas en genes clave en comparación con los afroamericanos.

Conclusiones:

La historia reciente de la humanidad ha moldeado significativamente la carga actual de SNV perjudiciales.
La edad de la mutación es un factor crítico en la comprensión de la variación genética humana y la enfermedad.
Los hallazgos ofrecen una guía práctica para priorizar las variantes en los esfuerzos de descubrimiento de genes de enfermedades.

Más Videos Relacionados

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Videos de Conceptos Relacionados

Exon Recombination

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon has three reading...

Organization of Genes

Organization of Genes

Gene Evolution - Fast or Slow?

Gene Evolution - Fast or Slow?

The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...

Gene Evolution - Fast or Slow?

Gene Evolution - Fast or Slow?

The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...

Genome Size and the Evolution of New Genes

Genome Size and the Evolution of New Genes

While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.

Genome Size and the Evolution of New Genes

Genome Size and the Evolution of New Genes

While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.