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Evolutionary selection against change in many Alu repeat sequences interspersed through primate genomes

Britten, Roy J. (1994) Evolutionary selection against change in many Alu repeat sequences interspersed through primate genomes. Proceedings of the National Academy of Sciences of the United States of America, 91 (13). pp. 5992-5996. ISSN 0027-8424. PMCID PMC44123.

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Mutations have been examined in the 1500 interspersed Alu repeats of human DNA that have been sequenced and are nearly full length. There is a set of particular changes at certain positions that rarely occur (termed suppressed changes) compared to the average of identical changes of identical nucleotides in the rest of the sequence. The suppressed changes occur in positions that are clustered together in what appear to be sites for protein binding. There is a good correlation of the suppression in different positions, and therefore the joint probability of absence of mutation at many pairs of such positions is significantly higher than that expected at random. The suppression of mutation appears to result from selection that is not due to requirements for Alu sequence replication. The implication is that hundreds of thousands of Alu sequences have sequence-dependent functions in the genome that are selectively important for primates. In a few known cases Alu inserts have been adapted to function in the regulation of gene transcription.

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Additional Information:© 1994 by the National Academy of Sciences. Contributed by Roy J. Britten, February 18, 1994. Eric Davidson and Walter Fitch have improved the manuscript. The large set of Alu sequences was collected by Jerzy Jurka and supplied by file transfer protocol (FTP) from Barbara H. Rapp of the National Library of Medicine. The work was supported by grants from the National Institutes of Health. The publication costs of this article were defrayed in part by page charge payment. This article must therefore be hereby marked "advertisement" in accordance with 18 U.S.C. §1734 solely to indicate this fact.
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Subject Keywords:insertion; sequence conservation; gene regulation
Issue or Number:13
PubMed Central ID:PMC44123
Record Number:CaltechAUTHORS:BRIpnas94a
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Usage Policy:No commercial reproduction, distribution, display or performance rights in this work are provided.
ID Code:7584
Deposited By: Tony Diaz
Deposited On:09 Mar 2007
Last Modified:02 Oct 2019 23:43

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