Significant positive correlation between the recombination rate and GC content in the human pseudoautosomal region

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Abstract:

This paper establishes that recombination drives the evolution of GC content in a significant way. Because the human P-arm pseudoautosomal region (PAR1) has been shown to have a high recombination rate, at least 20-fold more frequent than the genomic average of ~1 cM/Mb, this region provides an ideal system to study the role of recombination in the evolution of base composition. Nine non-coding regions of PAR1 are analyzed in this study. We have observed a highly significant positive correlation between the recombination rate and GC content ( = 0.837, p ≤ 0.005). Five regions that lie in the distal part of PAR1 are shown to be significantly higher than genomic average divergence. By comparing the intra- and inter-specific ATGC – GCAT ratios, we have detected no fixation bias toward GC alleles except for L254915, which has excessive ATGC changes in the human lineage. Thus, we conclude that the high GC content of the PAR1 genes better fits the biased gene conversion (BGC) model.Key words: pseudoautosomal region, GC content, base composition, evolution, recombination.

Les auteurs démontrent dans ce travail que la recombinaison influence de manière significative l'évolution du contenu en GC. Comme la région pseudoautosomale du bras P (PAR1) présente un fort taux de recombinaison, au moins 20 fois plus que la moyenne génomique de ~1cM/Mb, cette région s'avère un système idéal pour étudier le rôle de la recombinaison dans l'évolution de la composition en bases. Neuf régions non-codantes de PAR1 ont été analysées dans ce travail. Les auteurs ont observé une corrélation positive très significative entre le taux de recombinaison et le contenu en GC ( = 0,837, p ≤ 0,005). Cinq régions situées dans la portion distale de PAR1 montrent une divergence significativement plus élevée que la moyenne. En comparant le ratio des mutations ATGC – GCAT aux niveaux intra- et interspécifiques, les auteurs n'ont détecté aucun biais favorable aux allèles GC sauf pour L254915, lequel montrait un nombre excessif de mutations ATGC au sein du lignage humain. Les auteurs concluent ainsi que le contenu élevé en GC des gènes de la région PAR1 est davantage conforme aux prédictions du modèle BCG (« biased gene conversion »).Mots clés : région pseudoautosomale, contenu en GC, composition en bases, évolution, recombinaison.[Traduit par la Rédaction]

Document Type: Research Article

Publication date: May 1, 2006

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  • From its inception in 1957, this international cytogenetics journal has catered to the research areas of the members of the Genetics Society of Canada; traditionally, these have included agriculture, entomology, genetics/cytogenetics, and evolutionary mechanisms. The contents of the journal have evolved as contributors developed new technologies and interests. A 20-member Editorial Board is composed of scientists from around the world. Reviews and commentary from respected experts are often featured.
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