Relative extended haplotype homozygosity signals across breeds reveal dairy and beef specific signatures of selection
Open accessAbstract
BACKGROUND: A number of methods are available to scan a genome for selection signatures by evaluating patterns of diversity within and between breeds. Among these, "extended haplotype homozygosity" (EHH) is a reliable approach to detect genome regions under recent selective pressure. The objective of this study was to use this approach to identify regions that are under recent positive selection and shared by the most representative Italian dairy and beef cattle breeds. RESULTS: A total of 3220 animals from Italian Holstein (2179), Italian Brown (775), Simmental (493), Marchigiana (485) and Piedmontese (379) breeds were genotyped with the Illumina BovineSNP50 BeadChip v.1. After standard quality control procedures, genotypes were phased and core haplotypes were identified. The decay of linkage disequilibrium (LD) for each core haplotype was assessed by measuring the EHH. Since accurate estimates of local recombination rates were not available, relative EHH (rEHH) was calculated for each core haplotype. Genomic regions that carry frequent core haplotypes and with significant rEHH values were considered as candidates for recent positive selection. Candidate regions were aligned across to identify signals shared by dairy or beef cattle breeds. Overall, 82 and 87 common regions were detected among dairy and beef cattle breeds, respectively. Bioinformatic analysis identified 244 and 232 genes in these common genomic regions. Gene annotation and pathway analysis showed that these genes are involved in molecular functions that are biologically related to milk or meat production. CONCLUSIONS: Our results suggest that a multi-breed approach can lead to the identification of genomic signatures in breeds of cattle that are selected for the same production goal and thus to the localisation of genomic regions of interest in dairy and beef production.
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Under positive selection, strong and long range linkage disequilibrium and unexpectedly high local haplotype homozygosity might occur in the genome.
“Under positive selection, strong and long range linkage disequilibrium (LD) and unexpectedly high local haplotype homozygosity might occur in the genome (Gautier and Vitalis, 2012; Bomba et al., 2015).”
From Identification of Candidate Signature Genes and Key Regulators Associated With Trypanotolerance in the Sheko Breed (2019) · cites this paper as Bomba et al., 2015
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- Authors
- Bomba, L., Nicolazzi, E. L., Milanesi, M., Negrini, R., Mancini, G., Biscarini, F., Stella, A., Valentini, A., & Ajmone-Marsan, P.
- Affiliations
- Università Cattolica del Sacro Cuore (IT)
- Parco Tecnologico Padano (IT)
- Scuola Normale Superiore (IT)
- Università degli Studi della Tuscia (IT)
- Corresponding author
- Bomba, Lorenzo
- ORCID
- Venue
- Genetics Selection Evolution
- Published
- 2015-04-02
- Volume
- 47
- Issue
- 1
- Pages
- 25-25
- ISSN
- 0999-193X (ISSN-L)
- 1297-9686
- PMC
- PMC4383072
- OpenAlex
- W2126575387
- Cited by
- 42
- References
- 53
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 5 · 2023: 2 · 2022: 1 · 2021: 9 · 2020: 4 · 2019: 6 · 2018: 3 · 2017: 4 · 2016: 4 · 2015: 2
- FWCI
- 2.98
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Genetics Selection Evolution (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- HAL (submittedVersion, other-oa)
- UnitusOpen (Tuscia University) (submittedVersion)
- PubliCatt (Università Cattolica del Sacro Cuore) (submittedVersion, cc-by)
- Scuola Normale Superiore di Pisa (submittedVersion, cc-by)
- Funders
- Fondazione Cariplo
- Ministero delle Politiche Agricole Alimentari e Forestali
- Fondazione Banca Popolare di Lodi
- Regione Lombardia
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- extended haplotype homozygosity, positive selection signatures, dairy cattle, beef cattle, Italian cattle breeds, Holstein, Brown Swiss cattle, Simmental cattle, Marchigiana, Piedmontese, linkage disequilibrium, recombination rate
- MeSH terms
- Animals, Breeding, Cattle, Dairying, Haplotypes, Homozygote, Male, Meat, Selection, Genetic, Genomics, Molecular Sequence Annotation
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