Haplotype Block Structure Is Conserved across Mammals
Open accessAbstract
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.
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The isolation of strains and breeds in mouse, rat, cow, and dog results in much longer block lengths than are found in humans.
“The isolation of strains and breeds in these species results in much longer block lengths than are found in humans.”
From Linkage disequilibrium--understanding the evolutionary past and mapping the medical future. (2008) · cites this paper as [22]
The Results/Discussion section says linkage disequilibrium spans larger segments in mouse and rat than in humans and relates larger haplotype blocks to differences in population history. The Introduction also links large blocks in laboratory mice to a bottleneck during domestication. Our copy does not extend this comparison or explanation to cow or dog breeds. (LLM, conf=0.88)
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Abrahams-Salaam, F. (2008) · SUNScholar (Stellenbosch University)
Kreidberg, J. A. (2009)
Kreidberg, J. A. (2009) · Springer eBooks · doi:10.1007/978-3-540-76341-3_16
Translational Research Methods: The Value of Animal Models in Renal Research
Kreidberg, J. A. (2015) · Springer eBooks · doi:10.1007/978-3-662-43596-0_14
REMOVED DUE TO POLICY VIOLATIONSPreprint
Rostazada, M. D., Shirzad, J., Hazim, Z., & Sharifi, M. A. (2023) · doi:10.31219/osf.io/urfe9
- Authors
- Guryev, V., Smits, B. M. G., de Belt, J. V., Verheul, M., Hubner, N., & Cuppen, E.
- Affiliations
- Hubrecht Institute for Developmental Biology and Stem Cell Research (NL)
- Corresponding author
- Cuppen, Edwin
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2006-07-28
- Volume
- 2
- Issue
- 7
- Pages
- e121
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- PMC
- PMC1523234
- OpenAlex
- W2165123153
- Cited by
- 69
- References
- 30
- Citations by year
- 2024: 1 · 2023: 5 · 2022: 2 · 2021: 2 · 2020: 4 · 2019: 6 · 2018: 2 · 2017: 5 · 2015: 2 · 2014: 5 · 2013: 4 · 2012: 6
- FWCI
- 3.42
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- PLoS Genetics (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- MDC Repository (Max-Delbrueck-Center for Molecular Medicine) (acceptedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Figshare (submittedVersion, cc-by)
- KNAW Research Portal (The Royal Netherlands Academy of Arts and Sciences) (submittedVersion)
- Funders
- European Commission
- European Science Foundation
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Keywords
- haplotype blocks, linkage disequilibrium, HapMap, interspecies conservation, rats, human, mice, promoter, demographic history, recombination, genetic polymorphism
- MeSH terms
- Animals, Multigene Family, Haplotypes, Humans, Mammals, Models, Genetic, Polymorphism, Genetic, Recombination, Genetic, Species Specificity, Genetic Variation, Linkage Disequilibrium, Evolution, Molecular, Mice, Rats
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