Exon structure conservation despite low sequence similarity: a relic of dramatic events in evolution?
M J Betts1, R Guigó, P Agarwal
1Bioinformatics, GlaxoSmithKline, New Frontiers Science Park (North), 3rd Avenue, Harlow, CM19 5AW, UK.
The EMBO Journal
|September 28, 2001
Summary
Gene structure conservation, including intron position and length, offers clues to evolutionary history. This finding aids in identifying distant protein relatives and building evolutionary trees.
Area of Science:
- Evolutionary biology
- Genomics
- Bioinformatics
Background:
- The evolutionary role of introns, non-coding DNA sequences, is not well understood.
- Complete eukaryotic genomes provide opportunities to study intron function.
- Gene structure, encompassing intron position, phase, and length, is a key feature of eukaryotic genes.
Purpose of the Study:
- To investigate the conservation of gene structure in homologous protein domains.
- To determine if gene structure conservation correlates with protein function or evolutionary relationships.
- To explore the potential of gene structure conservation for identifying remote protein homologues.
Main Methods:
- Comparative analysis of gene structures across homologous protein domains in eukaryotic genomes.
- Utilizing protein tertiary structure information for sequence alignment when sequence similarity is low.
- Examining the relationship between gene structure conservation and biological processes.
Main Results:
- Conserved gene structures were observed in certain extracellular-signalling and nuclear domains, even with low sequence similarity.
- Intracellular signalling modules generally showed limited gene structure conservation.
- Domains with conserved gene structures, like cytokines, were often involved in similar biological processes, e.g., immune response.
Conclusions:
- Gene structure conservation may serve as a historical record of significant evolutionary events, such as the emergence of the immune system.
- Conserved intron positions and lengths can facilitate the detection of novel, distantly related protein homologues.
- This approach can aid in constructing phylogenetic trees for proteins with limited sequence similarity.
Related Concept Videos
Nucleotide Excision Repair
Overview
Nucleotide Excision Repair
Overview
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...
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved DNA...
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...
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Nucleotide Excision Repair
DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
Mismatch Repair
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...


