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Related Concept Videos

Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

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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.
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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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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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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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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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Single Cell Multiplex Reverse Transcription Polymerase Chain Reaction After Patch-clamp
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Identification of constrained sequence elements across 239 primate genomes.

Lukas F K Kuderna1, Jacob C Ulirsch1, Sabrina Rashid1

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

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|November 29, 2023
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Summary
This summary is machine-generated.

Researchers identified primate-specific regulatory DNA elements by analyzing 239 species. These elements are crucial for gene regulation and linked to human diseases, highlighting recent evolutionary changes.

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Area of Science:

  • Genomics
  • Evolutionary Biology
  • Human Genetics

Background:

  • Noncoding DNA is key to human gene regulation and complex diseases.
  • Evolutionary sequence constraint helps identify functional regulatory elements.
  • Primate-specific genomic element identification is challenging due to rapid noncoding DNA evolution and limited genomic data.

Purpose of the Study:

  • To identify human regulatory elements under selective constraint specifically in primates.
  • To understand the role of recent evolution in primate-specific regulatory sequences.

Main Methods:

  • Constructed a whole-genome alignment of 239 primate species.
  • Applied a 5% false discovery rate to identify constrained regulatory elements.
  • Validated cis-regulatory effects on gene expression.

Main Results:

  • Identified 111,318 DNase I hypersensitivity sites and 267,410 transcription factor binding sites constrained specifically in primates.
  • These elements show cis-regulatory effects on gene expression.
  • Enriched for human genetic variants associated with gene expression, complex traits, and diseases.

Conclusions:

  • Recent evolutionary events in regulatory sequences significantly differentiate primates from other placental mammals.
  • Primate-specific constrained regulatory elements are functionally important and linked to human health.
  • This study provides a valuable resource for understanding primate evolution and human disease.