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Haplotype block structure is conserved across mammals

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Item Type:Article
Title:Haplotype block structure is conserved across mammals
Creators Name:Guryev, V. and Smits, B.M. and van de Belt, J. and Verheul, M. and Huebner, N. and Cuppen, E.
Abstract:Genetic variation in genomes is organized in haplotype blocks, and species-specific block structure is defined by differential contribution of population history effects in combination with mutation and recombination events. Haplotype maps characterize the common patterns of linkage disequilibrium in populations and have important applications in the design and interpretation of genetic experiments. Although evolutionary processes are known to drive the selection of individual polymorphisms, their effect on haplotype block structure dynamics has not been shown. Here, we present a high-resolution haplotype map for a 5-megabase genomic region in the rat and compare it with the orthologous human and mouse segments. Although the size and fine structure of haplotype blocks are species dependent, there is a significant interspecies overlap in structure and a tendency for blocks to encompass complete genes. Extending these findings to the complete human genome using haplotype map phase I data reveals that linkage disequilibrium values are significantly higher for equally spaced positions in genic regions, including promoters, as compared to intergenic regions, indicating that a selective mechanism exists to maintain combinations of alleles within potentially interacting coding and regulatory regions. Although this characteristic may complicate the identification of causal polymorphisms underlying phenotypic traits, conservation of haplotype structure may be employed for the identification and characterization of functionally important genomic regions.
Keywords:Molecular Evolution, Haplotypes, Linkage Disequilibrium, Mammals, Genetic Models, Multigene Family, Genetic Polymorphism, Genetic Recombination, Species Specificity, Animals
Source:PLoS Genetics
Publisher:Public Library of Science
Page Range:1111-1118
Date:28 July 2006
Official Publication:https://doi.org/10.1371/journal.pgen.0020121
PubMed:View item in PubMed

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