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MBE Advance Access published online on January 22, 2004
Molecular Biology and Evolution, doi:10.1093/molbev/msh056
Molecular Biology and Evolution © Society for Molecular Biology and Evolution 2004; all rights reserved
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Accepted November 6, 2003
© 2004 Society for Molecular Biology and Evolution

Original Articles

Leptin Receptor Isoform 219.1: An Example of Protein Evolution by LINE-1 Mediated Human Specific Retrotransposition of a Coding SVA Element

Annette Damert 1, Johannes Löwer 1, and Roswitha Löwer 1*

1 Paul-Ehrlich-Institut, Paul-Ehrlich-Str. 51-59, D-63225 Langen, Germany

* To whom correspondence should be addressed. E-mail: loero{at}pei.de.


  Abstract

Phylogenetically new insertions of repetitive sequences may contribute to genome evolution by altering the function of pre-existing proteins. One example is the SVA sequence which forms the C-terminal coding exon of the human leptin receptor isoform 219.1. Here, we report that the SVA insertion into the LEPR locus has occurred after divergence of humans and chimpanzees. The SVA element was inserted into a Hal-1/LINE element present in all monkeys and apes tested. Structural features point towards an integration event that was mediated by the L1 protein machinery acting in trans. Thus our findings add evidence to the hypothesis that retrotransposition events are a driving force in genomic evolution and that the presence or absence of specific retroelements are one distinguishing feature that separates humans from chimpanzees.

Key Words: SVA, SINE-R, leptin receptor, retrotransposition, HERV-K, L1


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