Identification of a common haplotype in carriers of rob(1;29) in 32 Italian cattle breeds
Abstract Robertsonian translocation 1;29 (rob(1;29)), a widespread chromosomal anomaly affecting cattle fertility, appears to have originated from a common ancestor. This study utilizes routine SNP data to investigate the chromosomal region associated with rob(1;29) and confirm the presence of a sha...
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Nature Portfolio
2024-01-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-023-46341-3 |
| _version_ | 1797276550643580928 |
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| author | Matteo Cortellari Arianna Bionda Luigi Liotta Fiorella Sbarra Pietro Parma Paola Crepaldi |
| author_facet | Matteo Cortellari Arianna Bionda Luigi Liotta Fiorella Sbarra Pietro Parma Paola Crepaldi |
| author_sort | Matteo Cortellari |
| collection | DOAJ |
| description | Abstract Robertsonian translocation 1;29 (rob(1;29)), a widespread chromosomal anomaly affecting cattle fertility, appears to have originated from a common ancestor. This study utilizes routine SNP data to investigate the chromosomal region associated with rob(1;29) and confirm the presence of a shared haplotype among carriers in diverse Italian breeds. Three datasets were employed: Dataset 1 included 151 subjects from 5 beef cattle breeds genotyped with the GGP Bovine 33 k SNP chip; Dataset 2 encompassed 800 subjects from 32 Italian breeds genotyped with the Illumina 50 k SNP chip, sourced from the BOVITA dataset; Dataset 3 combined Dataset 2 with 21 karyologically tested subjects from breeds with a high carrier frequency, genotyped using the Affymetrix 65 K SNP chip. FST analysis pinpointed a distinctive genomic region on the first six Mb of BTA29, the centromeric region involved in the translocation. Haplotype comparisons within this non-recombining region revealed a common haplotype shared among all carriers, supporting the theory of a common ancestor. Principal component and haplotype analysis allowed clear differentiation of rob(1;29) homozygous and heterozygous carriers. Expanding to Dataset 2 revealed rob(1;29) carriers in unexpected breeds, all sharing the same ancestral haplotype. Notably, previously untested breeds, including Cinisara, exhibited a high carrier prevalence (nearly 50%), confirmed by karyological analysis. This study validates the presence of a shared haplotype among all identified rob(1;29) carriers, reinforcing the common ancestor theory as the origin of this translocation's spread throughout the cattle population. Furthermore, it underscores the potential of SNP data analysis as a rapid, accurate, and cost-effective tool for broad rob(1;29) screening, given the translocation's consistent nature across all analyzed breeds. |
| first_indexed | 2024-03-07T15:30:46Z |
| format | Article |
| id | doaj.art-7ab1da4b3f1740fd8a7b3a19c0ed7467 |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-03-07T15:30:46Z |
| publishDate | 2024-01-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-7ab1da4b3f1740fd8a7b3a19c0ed74672024-03-05T16:27:54ZengNature PortfolioScientific Reports2045-23222024-01-011411810.1038/s41598-023-46341-3Identification of a common haplotype in carriers of rob(1;29) in 32 Italian cattle breedsMatteo Cortellari0Arianna Bionda1Luigi Liotta2Fiorella Sbarra3Pietro Parma4Paola Crepaldi5Dipartimento di Scienze Agrarie e Ambientali—Produzione, Territorio, Agroenergia, University of MilanDipartimento di Scienze Agrarie e Ambientali—Produzione, Territorio, Agroenergia, University of MilanDipartimento di Scienze Veterinarie, University of MessinaNational Association of Italian Beef-Cattle Breeders (ANABIC)Dipartimento di Scienze Agrarie e Ambientali—Produzione, Territorio, Agroenergia, University of MilanDipartimento di Scienze Agrarie e Ambientali—Produzione, Territorio, Agroenergia, University of MilanAbstract Robertsonian translocation 1;29 (rob(1;29)), a widespread chromosomal anomaly affecting cattle fertility, appears to have originated from a common ancestor. This study utilizes routine SNP data to investigate the chromosomal region associated with rob(1;29) and confirm the presence of a shared haplotype among carriers in diverse Italian breeds. Three datasets were employed: Dataset 1 included 151 subjects from 5 beef cattle breeds genotyped with the GGP Bovine 33 k SNP chip; Dataset 2 encompassed 800 subjects from 32 Italian breeds genotyped with the Illumina 50 k SNP chip, sourced from the BOVITA dataset; Dataset 3 combined Dataset 2 with 21 karyologically tested subjects from breeds with a high carrier frequency, genotyped using the Affymetrix 65 K SNP chip. FST analysis pinpointed a distinctive genomic region on the first six Mb of BTA29, the centromeric region involved in the translocation. Haplotype comparisons within this non-recombining region revealed a common haplotype shared among all carriers, supporting the theory of a common ancestor. Principal component and haplotype analysis allowed clear differentiation of rob(1;29) homozygous and heterozygous carriers. Expanding to Dataset 2 revealed rob(1;29) carriers in unexpected breeds, all sharing the same ancestral haplotype. Notably, previously untested breeds, including Cinisara, exhibited a high carrier prevalence (nearly 50%), confirmed by karyological analysis. This study validates the presence of a shared haplotype among all identified rob(1;29) carriers, reinforcing the common ancestor theory as the origin of this translocation's spread throughout the cattle population. Furthermore, it underscores the potential of SNP data analysis as a rapid, accurate, and cost-effective tool for broad rob(1;29) screening, given the translocation's consistent nature across all analyzed breeds.https://doi.org/10.1038/s41598-023-46341-3 |
| spellingShingle | Matteo Cortellari Arianna Bionda Luigi Liotta Fiorella Sbarra Pietro Parma Paola Crepaldi Identification of a common haplotype in carriers of rob(1;29) in 32 Italian cattle breeds Scientific Reports |
| title | Identification of a common haplotype in carriers of rob(1;29) in 32 Italian cattle breeds |
| title_full | Identification of a common haplotype in carriers of rob(1;29) in 32 Italian cattle breeds |
| title_fullStr | Identification of a common haplotype in carriers of rob(1;29) in 32 Italian cattle breeds |
| title_full_unstemmed | Identification of a common haplotype in carriers of rob(1;29) in 32 Italian cattle breeds |
| title_short | Identification of a common haplotype in carriers of rob(1;29) in 32 Italian cattle breeds |
| title_sort | identification of a common haplotype in carriers of rob 1 29 in 32 italian cattle breeds |
| url | https://doi.org/10.1038/s41598-023-46341-3 |
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