Current topics in genome evolution: Molecular mechanisms of new gene formation |
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Authors: | D V Babushok E M Ostertag Jr" target="_blank">H H KazazianJr |
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Institution: | (1) Department of Genetics, University of Pennsylvania School of Medicine, 475 Clinical Research Building, 415 Curie Blvd, Philadelphia, Pennsylvania 19104 – 6145, USA;(2) Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA |
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Abstract: | Comparative genome analyses reveal that most functional domains of human genes have homologs in widely divergent species.
These shared functional domains, however, are differentially shuffled among evolutionary lineages to produce an increasing
number of domain architectures. Combined with duplication and adaptive evolution, domain shuffling is responsible for the
great phenotypic complexity of higher eukaryotes. Although the domain-shuffling hypothesis is generally accepted, determining
the molecular mechanisms that lead to domain shuffling and novel gene creation has been challenging, as sequence features
accompanying the formation of known genes have been obscured by accumulated mutations. The growing availability of genome
sequences and EST databases allows us to study the characteristics of newly emerged genes. Here we review recent genome-wide
DNA and EST analyses, and discuss the three major molecular mechanisms of gene formation: (1) atypical spicing, both within
and between genes, followed by adaptation, (2) tandem and interspersed segmental duplications, and (3) retrotransposition
events.
Received 18 October 2006; received after revision 18 November 2006; accepted 28 November 2006 |
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Keywords: | New gene formation exon-shuffling alternative splicing gene duplication retrotransposition |
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