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Related Concept Videos

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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Related Experiment Video

Updated: May 29, 2026

Preparation and Gene Modification of Nonhuman Primate Hematopoietic Stem and Progenitor Cells
11:16

Preparation and Gene Modification of Nonhuman Primate Hematopoietic Stem and Progenitor Cells

Published on: February 15, 2019

MBL1 gene in nonhuman primates.

Ludovica Segat1, Sergio Crovella

  • 1Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy. segat@burlo.trieste.it

Human Immunology
|September 6, 2011
PubMed
Summary

The Mannose-binding lectin 1 pseudogene (MBL1) shows signs of progressive silencing across primate evolution. A key intron insertion in Cercopithecidae may explain functional differences compared to humans.

Area of Science:

  • Evolutionary genetics
  • Primate genomics
  • Molecular evolution

Background:

  • The Mannose-binding lectin 1 (MBL1) gene plays a role in the innate immune system.
  • Understanding MBL1 gene evolution provides insights into primate immune system diversification.

Purpose of the Study:

  • To investigate the evolutionary trajectory of the MBL1 gene across various primate species.
  • To identify genetic factors contributing to differential MBL1 expression and function in primates.

Main Methods:

  • Comparative analysis of MBL1 coding region sequences from humans, great apes, lesser apes, and Old/New World monkeys.
  • Identification and characterization of genetic variations, including insertions, within the MBL1 gene.

Main Results:

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  • Evidence suggests a progressive silencing of the MBL1 gene during primate evolution.
  • A ~300 bp insertion in the first intron of MBL1 was identified in Cercopithecidae (Old World monkeys).
  • This insertion may account for alternative splicing, enabling Macaca mulatta to produce a complete MBL1 protein, unlike humans with a truncated product.

Conclusions:

  • The 300-bp insertion in Cercopithecidae likely allows for mature MBL1 protein expression, similar to M. mulatta.
  • Great apes, lesser apes, and humans, lacking this insertion, may possess only a truncated MBL1 pseudogene, indicating functional loss.