Abstract

BackgroundVariations in recombination fraction (θ) among chromosomal regions, individuals and families have been observed and have an important impact on quantitative trait loci (QTL) mapping studies. Such variations on porcine chromosome X (SSC-X) and on other mammalian chromosome X are rarely explored. The emerging assembly of pig sequence provides exact physical location of many markers, facilitating the study of a fine-scale recombination landscape of the pig genome by comparing a clone-based physical map to a genetic map. Using large offspring of F1 females from two large-scale resource populations (Large White ♂ × Chinese Meishan ♀, and White Duroc ♂ × Chinese Erhualian ♀), we were able to evaluate the heterogeneity in θ for a specific interval among individual F1 females.ResultsAlignments between the cytogenetic map, radiation hybrid (RH) map, genetic maps and clone map of SSC-X with the physical map of human chromosome X (HSA-X) are presented. The most likely order of 60 markers on SSC-X is inferred. The average recombination rate across SSC-X is of ~1.27 cM/Mb. However, almost no recombination occurred in a large region of ~31 Mb extending from the centromere to Xq21, whereas in the surrounding regions and in the Xq telomeric region a recombination rate of 2.8-3.3 cM/Mb was observed, more than twice the chromosome-wide average rate. Significant differences in θ among F1 females within each population were observed for several chromosomal intervals. The largest variation was observed in both populations in the interval UMNP71-SW1943, or more precisely in the subinterval UMNP891-UMNP93. The individual variation in θ over this subinterval was found associated with F1 females' maternal haplotypes (Chinese pig haplotypes) and independent of paternal haplotype (European pig haplotypes). The θ between UMNP891 and UMNP93 for haplotype 1122 and 4311 differed by more than fourteen-fold (10.3% vs. 0.7%).ConclusionsThis study reveals marked regional, individual and haplotype-specific differences in recombination rate on SSC-X. Lack of recombination in such a large region makes it impossible to narrow QTL interval using traditional fine-mapping approaches. The relationship between recombination variation and haplotype polymorphism is shown for the first time in pigs.

Highlights

  • Variations in recombination fraction (θ) among chromosomal regions, individuals and families have been observed and have an important impact on quantitative trait loci (QTL) mapping studies

  • Milan et al [6] detected a few major QTL on the porcine X chromosome (SSC-X) that explained more than 40% of the F2 phenotypic variation for backfat weight and muscle contents in a Large White × Meishan pig resource population

  • Estimation of the most likely marker order and regional variation in recombination rate along Such variations on porcine chromosome X (SSC-X) based on comparison of maps We used a total number of 60 markers in this study

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Summary

Introduction

Variations in recombination fraction (θ) among chromosomal regions, individuals and families have been observed and have an important impact on quantitative trait loci (QTL) mapping studies. Recombination rate can vary dramatically among species, among chromosomes within species, among regions within chromosomes, and among individuals and families within regions in mammals [1] These variations may have important consequences for the accuracy of marker assisted selection, genetic diagnosis and for the success of positional cloning or positional identification of disease gene and quantitative trait loci (QTL) [2]. Identification of causal genes underlying these QTL could have great economic significance for the pig industry It could provide very valuable insights into the genetic regulation of fat deposition in mammals. This purpose can hardly be achieved because, so far, little is known about between-region, individual and family variation in recombination that occurs on SSC-X

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