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Related Concept Videos

Gene Duplication and Divergence02:37

Gene Duplication and Divergence

The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.
Synteny and Evolution02:31

Synteny and Evolution

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.
Around 80 million years ago, the human and mice lineages diverged from the common ancestor. During the course of evolution, the ancestral chromosome underwent...
Gene Families01:57

Gene Families

Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

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 DNA...
Polytene Chromosomes02:04

Polytene Chromosomes

Polytene chromosomes are giant interphase chromosomes with several DNA strands placed side by side. They were discovered in the year 1881 by Balbiani in salivary glands, intestine, muscles, malpighian tubules, and hypoderm of larvae Chironomus plumosus. Hence, these are also called "Salivary gland chromosomes." These are found in insects of the order Diptera and Collembola; in certain organs of mammals; and synergids, antipodes of flowering plants. Polytene chromosomes are also regularly...
Exon Recombination02:32

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...

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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Segmental duplications contribute to gene expression differences between humans and chimpanzees.

Ran Blekhman1, Alicia Oshlack, Yoav Gilad

  • 1Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.

Genetics
|April 1, 2009
PubMed
Summary

Species-specific segmental duplications contribute to gene expression differences between humans and chimpanzees. These genomic structural changes play a key role in evolutionary divergence.

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Area of Science:

  • Genomics
  • Comparative genomics
  • Evolutionary biology

Background:

  • Gene expression differences between species are crucial for evolutionary divergence.
  • Genomic structural variations, including segmental duplications, are increasingly recognized as significant contributors to these differences.
  • Understanding the role of structural variations in gene regulation is key to deciphering species-specific traits.

Purpose of the Study:

  • To investigate the relationship between species-specific segmental duplications and differential gene expression between humans and chimpanzees.
  • To determine if genes within duplicated regions show altered expression patterns across species.

Main Methods:

  • Comparative genomic analysis of human and chimpanzee genomes.
  • Identification and characterization of species-specific segmental duplications.
  • Differential gene expression analysis between human and chimpanzee tissues or cell types.

Main Results:

  • Species-specific segmental duplications were identified in both human and chimpanzee lineages.
  • Genes located within these segmental duplication regions were found to be significantly enriched for differential expression between humans and chimpanzees.
  • This enrichment suggests a functional impact of segmental duplications on gene regulation.

Conclusions:

  • Species-specific segmental duplications are a significant source of gene expression variation between humans and chimpanzees.
  • Genomic structural changes, particularly segmental duplications, are important drivers of evolutionary differences in gene regulation.
  • Further research into the functional consequences of segmental duplications can illuminate the genetic basis of species-specific adaptations.