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Related Concept Videos

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 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.
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...
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
Gene Conversion02:08

Gene Conversion

Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
Mutations01:39

Mutations

Overview

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Related Experiment Video

Updated: Jul 6, 2026

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
05:48

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein

Published on: March 16, 2022

Chimerism, point mutation, and truncation dramatically transformed mast cell delta-tryptases during primate

Neil N Trivedi1, Wilfred W Raymond, George H Caughey

  • 1Cardiovascular Research Institute of the University of California at San Francisco, San Francisco, CA, USA.

The Journal of Allergy and Clinical Immunology
|March 8, 2008
PubMed
Summary

Primate evolution led to significant changes in delta-tryptase function. While nearly inactive in humans, delta-tryptases are active and dominant in monkeys due to specific mutations.

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Analyzing the Functions of Mast Cells In Vivo Using 'Mast Cell Knock-in' Mice
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Analyzing the Functions of Mast Cells In Vivo Using 'Mast Cell Knock-in' Mice

Published on: May 27, 2015

Area of Science:

  • Evolutionary biology
  • Molecular genetics
  • Primate genomics

Background:

  • Tryptases are mast cell-associated serine peptidases.
  • Human alpha- and beta-tryptases are orthologs of rodent MCP-6.
  • Human delta-tryptase is a chimeric enzyme derived from MCP-7, with hypothesized limited activity due to mutations.

Purpose of the Study:

  • To investigate the evolutionary origins of mutations in primate delta-tryptases.
  • To understand the functional consequences of these mutations on delta-tryptase activity.

Main Methods:

  • Genomic data mining and sequencing of delta-tryptase genes across various primates (lemurs, macaques, great apes, humans).
  • Phylogenetic and structural analyses of the identified genes.
  • Modeling of macaque delta-tryptase to assess the impact of structural changes.

Main Results:

  • The delta-tryptase chimera formed early in primate evolution.
  • Truncation (Trp206 nonsense mutation) occurred after the divergence of orangutans.
  • A recent Arg-3Gln propeptide mutation is present in humans and chimpanzees.
  • Monkeys utilize full-length delta-tryptase as their major active tryptase, unlike humans where beta-tryptase dominates.
  • Truncated segments in human delta-tryptase disrupt substrate-binding cleft structure, explaining reduced activity.

Conclusions:

  • Evolutionary modifications of the ancestral MCP-7-like gene resulted in diverse delta-tryptase functions across primates.
  • Delta-tryptases exhibit vastly different activities, being nearly inactive in humans but highly active and dominant in monkeys.