A genomic biomarker for the rapid identification of the rob(1;29) translocation in beef cattle breeds.


Journal

Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288

Informations de publication

Date de publication:
05 Feb 2024
Historique:
received: 19 09 2023
accepted: 30 01 2024
medline: 6 2 2024
pubmed: 6 2 2024
entrez: 5 2 2024
Statut: epublish

Résumé

Robertsonian translocations, specifically rob(1;29) translocation, have reportedly been the most prevalent chromosomal abnormalities in cattle, affecting various breeds and leading to a decrease in fertility and reproductive value. Currently, the identification of rob(1;29) carriers relies on cytogenetic analysis that has limitations in terms of accessibility, cost, and sample requirements. To address these limitations, a novel genomic biomarker was developed in this study for the rapid and precise identification of rob(1;29) carriers. Using q-PCR, a specific copy number variation associated with translocation was targeted, which effectively distinguished between wild-type, homozygous and heterozygous carriers. Crucially, the biomarker can be applied to DNA extracted from various biological matrices, such as semen, embryos, oocytes, milk, saliva, coat, and muscle, and it is compatible with fresh, refrigerated, or frozen samples. Furthermore, this approach offers significant reductions in cost compared to those associated with traditional cytogenetic analysis and provides results within a short turnaround time. The successful development of this genomic biomarker has considerable potential for widespread adoption in screening programs. It facilitates timely identification and management of rob(1;29) carriers while mitigating economic losses and preserving genetic integrity in bovine populations.

Identifiants

pubmed: 38316831
doi: 10.1038/s41598-024-53232-8
pii: 10.1038/s41598-024-53232-8
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

2951

Informations de copyright

© 2024. The Author(s).

Références

Gustavsson, I. & Rockborn, G. Chromosome abnormality in three cases of lymphatic leukaemia in cattle. Nature 203, 990. https://doi.org/10.1038/203990a0 (1964).
doi: 10.1038/203990a0 pubmed: 14203527
Popescu, C. P. & Pech, A. Une bibliographie sur la translocation 1/29 de bovins dans le monde (1964–1990). Ann Zootech 40, 271–305 (1991).
doi: 10.1051/animres:19910405
Gustavsson, I. Cytogenetics, distribution and phenotypic effects of a translocation in Swedish cattle. Hereditas 63, 68–169. https://doi.org/10.1111/j.1601-5223.1969.tb02259.x (1969).
doi: 10.1111/j.1601-5223.1969.tb02259.x pubmed: 5399228
Gustavsson, I. Distribution of the 1/29 translocation in the A.I. Bull population of Swedish Red and White cattle. Hereditas 69, 101–106. https://doi.org/10.1111/j.1601-5223.1971.tb02422.x (1971).
doi: 10.1111/j.1601-5223.1971.tb02422.x pubmed: 5173414
Dyrendahl, I. & Gustavsson, I. Sexual functions, semen characteristics and fertility of bulls carrying the 1/29 chromosome translocation. Hereditas 90, 281–289. https://doi.org/10.1111/j.1601-5223.1979.tb01315.x (1979).
doi: 10.1111/j.1601-5223.1979.tb01315.x pubmed: 437991
Schmutz, S. M., Moker, J. S., Barth, A. D. & Mapletoft, R. J. Embryonic loss in superovulated cattle caused by the 1;29 Robertsonian translocation. Theriogenology 35, 705–714. https://doi.org/10.1016/0093-691x(91)90411-6 (1991).
doi: 10.1016/0093-691x(91)90411-6 pubmed: 16726939
Lonergan, P., Kommisrud, E., Andresen, O., Refsdal, A. O. & Farstad, W. Use of semen from a bull heterozygous for the 1 29 translocation in an IVF program. Theriogenology 41, 1379–1384. https://doi.org/10.1016/0093-691x(94)90189-p (1994).
doi: 10.1016/0093-691x(94)90189-p pubmed: 16727492
Rodero-Serrano, E., Demyda-Peyrás, S., González-Martinez, A., Rodero-Franganillo, A. & Moreno-Millán, M.,. The rob(1;29) chromosome translocation in endangered Andalusian cattle breeds. Livestock Sci. 1, 32–39. https://doi.org/10.1016/j.livsci.2013.10.001 (2013).
doi: 10.1016/j.livsci.2013.10.001
Bonnet-Garnier, A. et al. Sperm nuclei analysis of 1/29 Robertsonian translocation carrier bulls using fluorescence in situ hybridization. Cytogenet. Genome Res. 112, 241–247. https://doi.org/10.1159/000089877 (2006).
doi: 10.1159/000089877 pubmed: 16484779
Bonnet-Garnier, A. et al. Meiotic segregation analysis in cows carrying the t(1;29) Robertsonian translocation. Cytogenet. Genome Res. 120, 91–96. https://doi.org/10.1159/000118744 (2008).
doi: 10.1159/000118744 pubmed: 18467829
Iannuzzi, A. et al. Frequency and distribution of rob(1;29) in eight Portuguese cattle breeds. Cytogenet. Genome Res. 120, 147–149. https://doi.org/10.1159/000118755 (2008).
doi: 10.1159/000118755 pubmed: 18467840
Iannuzzi, A., Parma, P. & Iannuzzi, L. Chromosome abnormalities and fertility in domestic bovids: A review. Anim. Open Access J. MDPI 11, 1. https://doi.org/10.3390/ani11030802 (2021).
doi: 10.3390/ani11030802
Jimenez, J. M., Morales, R., Molina, A., Moreno-Millan, M. & Demyda-Peyras, S. Effect of the rob(1;29) translocation on the fertility of beef cattle reared under extensive conditions: A 30-year retrospective study. Reprod. Domest. Anim. 57, 349–356. https://doi.org/10.1111/rda.14073 (2022).
doi: 10.1111/rda.14073 pubmed: 34958697
Ducos, A. et al. Cytogenetic screening of livestock populations in Europe: An overview. Cytogenet. Genome Res. 120, 26–41. https://doi.org/10.1159/000118738 (2008).
doi: 10.1159/000118738 pubmed: 18467823
De Grouchy, J., Roubin, M. & Passage, E. Microtechnique pour l’etude des chromosomes humains a partir d’une culture de leucocytes sanguins (Microtechnic for the study of human chromosomes from a human leukocyte culture). Annales de genetique 45, 1 (1964).
Vozdova, M., Kubickova, S., Cernohorska, H. & Rubes, J. Detection of translocation rob(1;29) in bull sperm using a specific DNA probe. Cytogenet. Genome Res. 120, 102–105. https://doi.org/10.1159/000118746 (2008).
doi: 10.1159/000118746 pubmed: 18467831
Iannuzzi, A., Iannuzzi, L. & Parma, P. Molecular cytogenetics in domestic bovids: A review. Anim. Open Access J. MDPI 13, 1. https://doi.org/10.3390/ani13050944 (2023).
doi: 10.3390/ani13050944
McNab, F. W., Rajsbaum, R., Stoye, J. P. & O’Garra, A. Tripartite-motif proteins and innate immune regulation. Curr. Opin. Immunol. 23, 46–56. https://doi.org/10.1016/j.coi.2010.10.021 (2011).
doi: 10.1016/j.coi.2010.10.021 pubmed: 21131187
Switonski, M., Gustavsson, I. & Ploen, L. The nature of the 1;29 translocation in cattle as revealed by synaptonemal complex analysis using electron microscopy. Cytogenet. Cell Genet. 44, 103–111. https://doi.org/10.1159/000132353 (1987).
doi: 10.1159/000132353 pubmed: 3568759
De Lorenzi, L. et al. Genomic analysis of cattle rob(1;29). Chromosome Res. Int. J. Mol. Supramol. Evolut. Aspects Chromosome Biol. 20, 815–823. https://doi.org/10.1007/s10577-012-9315-y (2012).
doi: 10.1007/s10577-012-9315-y
Lewis, N. M. et al. The economic burden of chromosome translocations and the benefits of enhanced screening for cattle breeding. Anim. Open Access J. MDPI 12, 1. https://doi.org/10.3390/ani12151982 (2022).
doi: 10.3390/ani12151982
Cortellari, M. et al. Identification of a common haplotype in carriers of rob(1;29) in 32 Italian cattle breeds. Sci. Rep. 14, 2057 (2024).
doi: 10.1038/s41598-023-46341-3 pubmed: 38267480 pmcid: 10808231
Robinson, J. T. et al. Integrative genomics viewer. Nat. Biotechnol. 29, 24–26. https://doi.org/10.1038/nbt.1754 (2011).
doi: 10.1038/nbt.1754 pubmed: 21221095 pmcid: 3346182
Bustin, S. A. et al. The MIQE guidelines: minimum information for publication of quantitative real-time PCR experiments. Clin. Chem. 55, 611–622. https://doi.org/10.1373/clinchem.2008.112797 (2009).
doi: 10.1373/clinchem.2008.112797 pubmed: 19246619
Iannuzzi, A. et al. Characterization of telomere length in Agerolese cattle breed, correlating blood and milk samples. Anim. Genet. 53, 676–679. https://doi.org/10.1111/age.13227 (2022).
doi: 10.1111/age.13227 pubmed: 35775462 pmcid: 9544343
Iannuzzi, A. et al. Evaluation of bovine sperm telomere length and association with semen quality. Theriogenology 158, 227–232. https://doi.org/10.1016/j.theriogenology.2020.09.019 (2020).
doi: 10.1016/j.theriogenology.2020.09.019 pubmed: 32980685

Auteurs

Alessandra Iannuzzi (A)

Institute for Animal Production System in Mediterranean Environment, National Research Council, 80055, Portici, Italy. alessandra.iannuzzi@cnr.it.

Sebastián Demyda-Peyrás (S)

Departamento de Genética, Universidad de Córdoba, Campus Rabanales, 14014, Córdoba, Spain.
Facultad de Ciencias Veterinarias, Universidad Nacionald E La Plata, 1900, La Plata, Argentina.

Ramona Pistucci (R)

Institute for Animal Production System in Mediterranean Environment, National Research Council, 80055, Portici, Italy.

Rosa Morales (R)

Departamento de Genética, Universidad de Córdoba, Campus Rabanales, 14014, Córdoba, Spain.

Michele Zannotti (M)

Department of Agricultural and Environmental Sciences, University of Milan, 20133, Milan, Italy.

Fiorella Sbarra (F)

National Association of Italian Beef-Cattle Breeders (ANABIC), 06132, San Martino in Colle, Perugia, Italy.

Andrea Quaglia (A)

National Association of Italian Beef-Cattle Breeders (ANABIC), 06132, San Martino in Colle, Perugia, Italy.

Pietro Parma (P)

Department of Agricultural and Environmental Sciences, University of Milan, 20133, Milan, Italy.

Classifications MeSH