Insertion and Deletion of Exons during Human Gene Evolution


During the evolution of human genes, exons have been both acquired and lost. The study of the structure of orthologous mammalian genes provides numerous examples of the gain or loss of exons by a variety of different mechanisms.

Keywords: exon deletion; exon insertion; exon duplication/amplification; exon shuffling; LINE element‐mediated recombination; alternative splicing; pseudoexons


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Further Reading

Cooper DN (1999) Human Gene Evolution. Oxford: BIOS Scientific.

Kolkman JA and Stemmer WP (2001) Directed evolution of proteins by exon shuffling. Nature Biotechnology 19: 423–428.

Long M (2001) Evolution of novel genes. Current Opinion in Genetics and Development 11: 673–680.

Vilches C, Pando MJ and Parham P (2000) Genes encoding human killer‐cell Ig‐like receptors with D1 and D2 extracellular domains all contain untranslated pseudoexons encoding a third Ig‐like domain. Immunogenetics 51: 639–646.

Web Links

Chromosome condensation 1 (CHC1); LocusID: 1104. LocusLink:

Chromosome condensation 1 (CHC1); MIM number: 179710. OMIM:‐post/Omim/dispmim?179710

Cystic fibrosis transmembrane conductance regulator, ATP‐binding cassette (CFTR); LocusID: 1080. LocusLink:

Cystic fibrosis transmembrane conductance regulator, ATP‐binding cassette (CFTR); MIM number: 602421. OMIM:‐post/Omim/dispmim?602421

Low density lipoprotein receptor‐related protein 8, apolipoprotein e receptor (LRP8); LocusID: 7804. LocusLink:

Low density lipoprotein receptor‐related protein 8, apolipoprotein e receptor (LRP8); MIM number: 602600. OMIM:‐post/Omim/dispmim?602600

Major histocompatibility complex, class II, DR beta 6 (HLA‐DRB6); LocusID: 3128. LocusLink:

Renin (REN); MIM number: 179820. OMIM:‐post/Omim/dispmim?179820

Renin (REN); LocusID: 5972. LocusLink:

Transferrin (TF); LocusID: 7018. LocusLink:

Transferrin (TF); MIM number: 190000. OMIM‐post/Omim/dispmim?190000

Vertebrate exon evolution database:

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How to Cite close
Cooper, David N(Sep 2007) Insertion and Deletion of Exons during Human Gene Evolution. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005088.pub2]