Insertion and Deletion of Exons during Human Gene Evolution

Abstract

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.

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Web Links

Chromosome condensation 1 (CHC1); LocusID: 1104. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1104

Chromosome condensation 1 (CHC1); MIM number: 179710. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?179710

Cystic fibrosis transmembrane conductance regulator, ATP‐binding cassette (CFTR); LocusID: 1080. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1080

Cystic fibrosis transmembrane conductance regulator, ATP‐binding cassette (CFTR); MIM number: 602421. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?602421

Low density lipoprotein receptor‐related protein 8, apolipoprotein e receptor (LRP8); LocusID: 7804. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7804

Low density lipoprotein receptor‐related protein 8, apolipoprotein e receptor (LRP8); MIM number: 602600. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?602600

Major histocompatibility complex, class II, DR beta 6 (HLA‐DRB6); LocusID: 3128. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3128

Renin (REN); MIM number: 179820. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?179820

Renin (REN); LocusID: 5972. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5972

Transferrin (TF); LocusID: 7018. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7018

Transferrin (TF); MIM number: 190000. OMIM http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?190000

Vertebrate exon evolution database: http://www.bioinformatics.ucla.edu/VEEDB

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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. http://www.els.net [doi: 10.1002/9780470015902.a0005088.pub2]