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

Britten, Roy J. (2004) Coding sequences of functioning human genes derived entirely from mobile element sequences. Proceedings of the National Academy of Sciences of the United States of America, 101 (48). pp. 16825-16830. ISSN 0027-8424. PMCID PMC534736.

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Among all of the many examples of mobile elements or "parasitic sequences" that affect the function of the human genome, this paper describes several examples of functioning genes whose sequences have been almost completely derived from mobile elements. There are many examples where the synthetic coding sequences of observed mRNA sequences are made up of mobile element sequences, to an extent of 80% or more of the length of the coding sequences. In the examples described here, the genes have named functions, and some of these functions have been studied. It appears that each of the functioning genes was originally formed from mobile elements and that in some process of molecular evolution a coding sequence was derived that could be translated into a protein that is of some importance to human biology. In one case (AID7C), the coding sequence is 99% made up of a cluster of Alu sequences. In another example, the gene BNIP3 coding sequence is 97% made up of sequences from an apparent human endogenous retrovirus. The Syncytin gene coding sequence appears to be made from an endogenous retrovirus envelope gene.

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Additional Information:Copyright © 2004 by the National Academy of Sciences. Contributed by Roy J. Britten, September 20, 2004. I thank John Williams for assistance, Arian Smit and Mark Springer for criticism, and Eric H. Davidson’s laboratory for support.
Subject Keywords:transposable elements, human genome, locus, disorder, 13Q33
Issue or Number:48
PubMed Central ID:PMC534736
Record Number:CaltechAUTHORS:BRIpnas04
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Usage Policy:No commercial reproduction, distribution, display or performance rights in this work are provided.
ID Code:934
Deposited By: Tony Diaz
Deposited On:09 Nov 2005
Last Modified:02 Oct 2019 22:38

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