help button home button Genetics eBMJ
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Originally published as Genetics Published Articles Ahead of Print on October 22, 2006.

Genetics, Vol. 175, 421-428, January 2007, Copyright © 2007
doi:10.1534/genetics.106.064386

This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow All Versions of this Article:
genetics.106.064386v1
175/1/421    most recent
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Schmegner, C.
Right arrow Articles by Assum, G.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Schmegner, C.
Right arrow Articles by Assum, G.

The Rate, Not the Spectrum, of Base Pair Substitutions Changes at a GC-Content Transition in the Human NF1 Gene Region: Implications for the Evolution of the Mammalian Genome Structure

Claudia Schmegner, Josef Hoegel, Walther Vogel and Günter Assum1

Institut für Humangenetik, Universität Ulm, D-89081 Ulm, Germany

1 Corresponding author: Institut für Humangenetik, Universität Ulm, Albert-Einstein-Allee 11, D-89081 Ulm, Germany.
E-mail: guenter.assum{at}uni-ulm.de

The human genome is composed of long stretches of DNA with distinct GC contents, called isochores or GC-content domains. A boundary between two GC-content domains in the human NF1 gene region is also a boundary between domains of early- and late-replicating sequences and of regions with high and low recombination frequencies. The perfect conservation of the GC-content distribution in this region between human and mouse demonstrates that GC-content stabilizing forces must act regionally on a fine scale at this locus. To further elucidate the nature of these forces, we report here on the spectrum of human SNPs and base pair substitutions between human and chimpanzee. The results show that the mutation rate changes exactly at the GC-content transition zone from low values in the GC-poor sequences to high values in GC-rich ones. The GC content of the GC-poor sequences can be explained by a bias in favor of GC > AT mutations, whereas the GC content of the GC-rich segment may result from a fixation bias in favor of AT > GC substitutions. This fixation bias may be explained by direct selection by the GC content or by biased gene conversion.




This article has been cited by other articles:


Home page
 Genome Res.Home page
T. R. Dreszer, G. D. Wall, D. Haussler, and K. S. Pollard
Biased clustered substitutions in the human genome: The footprints of male-driven biased gene conversion
Genome Res., October 1, 2007; 17(10): 1420 - 1430.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2007 by the Genetics Society of America.