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Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
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Synteny and Evolution02:31

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John H. Renwick first coined the term “synteny” in 1971, which refers to the genes present on the same chromosomes, even if they are not genetically linked. The species with common ancestry tend to show conserved syntenic regions. Therefore, the concept of synteny is nowadays used to describe the evolutionary relationship between species.
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Evolutionary Relationships through Genome Comparisons02:54

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Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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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.
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Cis-regulatory Sequences02:02

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Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
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Convergent Evolution01:54

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Evolution shapes the features of organisms over time, ensuring that they are suited for the environments in which they live. Sometimes, selection pressure leads to the rise of similar but unrelated adaptations in organisms with no recent common ancestors, a process known as convergent evolution.
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Video Experimental Relacionado

Updated: Jul 9, 2025

Single Cell Multiplex Reverse Transcription Polymerase Chain Reaction After Patch-clamp
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Identificación de elementos de secuencia restringidos en 239 genomas de primates

Lukas F K Kuderna1, Jacob C Ulirsch1, Sabrina Rashid1

  • 1Illumina Artificial Intelligence Laboratory, Illumina, San Diego, CA, USA.

Nature
|November 29, 2023
PubMed
Resumen

Los investigadores identificaron elementos de ADN reguladores específicos de los primates mediante el análisis de 239 especies. Estos elementos son cruciales para la regulación de los genes y están vinculados a las enfermedades humanas, lo que pone de relieve los cambios evolutivos recientes.

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Área de la Ciencia:

  • La genómica
  • Biología evolutiva
  • La genética humana

Sus antecedentes:

  • El ADN no codificante es clave para la regulación genética humana y las enfermedades complejas.
  • La restricción de la secuencia evolutiva ayuda a identificar los elementos reguladores funcionales.
  • La identificación de elementos genómicos específicos de los primates es un desafío debido a la rápida evolución del ADN no codificante y los datos genómicos limitados.

Objetivo del estudio:

  • Identificar los elementos reguladores humanos bajo restricción selectiva específicamente en los primates.
  • Comprender el papel de la evolución reciente en las secuencias reguladoras específicas de los primates.

Principales métodos:

  • Construyó una alineación de todo el genoma de 239 especies de primates.
  • Se aplicó una tasa de descubrimiento falso del 5% para identificar los elementos reglamentarios restringidos.
  • Efectos cis-reguladores validados en la expresión génica.

Principales resultados:

  • Se identificaron 111,318 sitios de hipersensibilidad a la DNasa I y 267,410 sitios de unión al factor de transcripción específicamente restringidos en primates.
  • Estos elementos muestran efectos cis-reguladores en la expresión génica.
  • Enriquecido para variantes genéticas humanas asociadas con la expresión génica, rasgos complejos y enfermedades.

Conclusiones:

  • Los eventos evolutivos recientes en las secuencias reguladoras diferencian significativamente a los primates de otros mamíferos placentarios.
  • Los elementos reglamentarios restringidos específicos de los primates son funcionalmente importantes y están vinculados a la salud humana.
  • Este estudio proporciona un recurso valioso para comprender la evolución de los primates y las enfermedades humanas.