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DNA sequence insertion and evolutionary variation in gene regulation

Britten, Roy J. (1996) DNA sequence insertion and evolutionary variation in gene regulation. Proceedings of the National Academy of Sciences of the United States of America, 93 (18). pp. 9374-9377. ISSN 0027-8424. PMCID PMC38434.

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Current evidence on the long-term evolutionary effect of insertion of sequence elements into gene regions is reviewed, restricted to cases where a sequence derived from a past insertion participates in the regulation of expression of a useful gene. Ten such examples in eukaryotes demonstrate that segments of repetitive DNA or mobile elements have been inserted in the past in gene regions, have been preserved, sometimes modified by selection, and now affect control of transcription of the adjacent gene. Included are only examples in which transcription control was modified by the insert. Several cases in which merely transcription initiation occurred in the insert were set aside. Two of the examples involved the long terminal repeats of mammalian endogenous retroviruses. Another two examples were control of transcription by repeated sequence inserts in sea urchin genomes. There are now six published examples in which Alu sequences were inserted long ago into human gene regions, were modified, and now are central in control/enhancement of transcription. The number of published examples of Alu sequences affecting gene control has grown threefold in the last year and is likely to continue growing. Taken together, all of these examples show that the insertion of sequence elements in the genome has been a significant source of regulatory variation in evolution.

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Additional Information:© 1996 by the National Academy of Sciences. This paper was presented at a colloquium entitled "Biology of Developmental Transcription Control," organized by Eric H. Davidson, Roy J. Britten, and Gary Felsenfeld, held October 26-28, 1995, at the National Academy of Sciences in Irvine, CA. This work was supported by grants from the National Institutes of Health.
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Subject Keywords:mobile elements; long terminal repeats; Alu sequences; factor-binding sites
Issue or Number:18
PubMed Central ID:PMC38434
Record Number:CaltechAUTHORS:BRIpnas96
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Usage Policy:No commercial reproduction, distribution, display or performance rights in this work are provided.
ID Code:11336
Deposited By: Tony Diaz
Deposited On:08 Aug 2008 23:50
Last Modified:03 Oct 2019 00:18

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