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Coding sequences of functioning human genes derived entirely from mobile element sequences.

Roy J Britten1

  • 1California Institute of Technology, 101 Dahlia Avenue, Corona del Mar, CA 92625, USA. rbritten@caltech.edu

Proceedings of the National Academy of Sciences of the United States of America
|November 18, 2004
PubMed
Summary

Human genes can originate from mobile genetic elements, also known as parasitic sequences. These elements can form the majority of functional gene sequences, impacting human biology and evolution.

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Area of Science:

  • Genomics
  • Molecular Evolution
  • Human Genetics

Background:

  • Mobile genetic elements, or parasitic sequences, are abundant in the human genome.
  • These elements can significantly influence genome function and evolution.
  • Previous research has noted mobile element contributions to gene sequences.

Purpose of the Study:

  • To identify and describe functioning human genes derived from mobile elements.
  • To investigate the extent of mobile element contribution to gene coding sequences.
  • To explore the evolutionary origins of functional genes from mobile elements.

Main Methods:

  • Sequence analysis of human genes.
  • Identification of mobile element-derived sequences within gene coding regions.

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  • Comparison of gene sequences to known mobile element databases.

    • Main Results:

    • Several functional human genes are predominantly composed of sequences from mobile elements (over 80%).
    • The AD7C gene coding sequence is 99% derived from Alu sequences.
    • The BNIP3 gene and Syncytin gene coding sequences show significant derivation from human endogenous retroviruses.

    Conclusions:

    • Functional human genes can evolve from mobile genetic elements.
    • Mobile elements have played a crucial role in the formation of genes important for human biology.
    • This highlights a significant pathway for gene innovation and evolution in the human genome.