The genetic background of clinical mastitis in Holstein-Friesian cattle
Mastitis is an inflammatory disease of the mammary gland, which has a significant economic impact and is an animal welfare concern. This work examined the association between single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) with the incidence of clinical mastitis (CM). Using...
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| Format: | Article |
| Language: | English |
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Elsevier
2019-01-01
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| Series: | Animal |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1751731119000338 |
| _version_ | 1818928750329331712 |
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| author | J. Szyda M. Mielczarek M. Frąszczak G. Minozzi J.L. Williams K. Wojdak-Maksymiec |
| author_facet | J. Szyda M. Mielczarek M. Frąszczak G. Minozzi J.L. Williams K. Wojdak-Maksymiec |
| author_sort | J. Szyda |
| collection | DOAJ |
| description | Mastitis is an inflammatory disease of the mammary gland, which has a significant economic impact and is an animal welfare concern. This work examined the association between single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) with the incidence of clinical mastitis (CM). Using information from 16 half-sib pairs of Holstein-Friesian cows (32 animals in total) we searched for genomic regions that differed between a healthy (no incidence of CM) and a mastitis-prone (multiple incidences of CM) half-sib. Three cows with average sequence depth of coverage below 10 were excluded, which left 13 half-sib pairs available for comparisons. In total, 191 CNV regions were identified, which were deleted in a mastitis-prone cow, but present in its healthy half-sib and overlapped in at least nine half-sib pairs. These regions overlapped with exons of 46 genes, among which APP (BTA1), FOXL2 (BTA1), SSFA2 (BTA2), OTUD3 (BTA2), ADORA2A (BTA17), TXNRD2 (BTA17) and NDUFS6 (BTA20) have been reported to influence CM. Moreover, two duplicated CNV regions present in nine healthy individuals and absent in their mastitis-affected half-sibs overlapped with exons of a cholinergic receptor nicotinic α 10 subunit on BTA15 and a novel gene (ENSBTAG00000008519) on BTA27. One CNV region deleted in nine mastitis-affected sibs overlapped with two neighbouring long non-coding RNA sequences located on BTA12. Single nucleotide polymorphisms with differential genotypes between a healthy and a mastitis-affected sib included 17 polymorphisms with alternate alleles in eight affected and healthy half-sib families. Three of these SNPs were located introns of genes: MET (BTA04), RNF122 (BTA27) and WRN (BTA27). In summary, structural polymorphisms in form of CNVs, putatively play a role in susceptibility to CM. Specifically, sequence deletions have a greater effect on reducing resistance against mastitis, than sequence duplications have on increasing resistance against the disease. |
| first_indexed | 2024-12-20T03:33:52Z |
| format | Article |
| id | doaj.art-8309f2b64534437580534a0b61520bcd |
| institution | Directory Open Access Journal |
| issn | 1751-7311 |
| language | English |
| last_indexed | 2024-12-20T03:33:52Z |
| publishDate | 2019-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Animal |
| spelling | doaj.art-8309f2b64534437580534a0b61520bcd2022-12-21T19:54:55ZengElsevierAnimal1751-73112019-01-01131021562163The genetic background of clinical mastitis in Holstein-Friesian cattleJ. Szyda0M. Mielczarek1M. Frąszczak2G. Minozzi3J.L. Williams4K. Wojdak-Maksymiec5Biostatistics Group, Department of Genetics, Wroclaw University of Environmental and Life Sciences, Kozuchowska 7, 51-631 Wroclaw, Poland; Institute of Animal Breeding, Krakowska 1, 32-083 Balice, PolandBiostatistics Group, Department of Genetics, Wroclaw University of Environmental and Life Sciences, Kozuchowska 7, 51-631 Wroclaw, Poland; Institute of Animal Breeding, Krakowska 1, 32-083 Balice, PolandBiostatistics Group, Department of Genetics, Wroclaw University of Environmental and Life Sciences, Kozuchowska 7, 51-631 Wroclaw, PolandDepartment of Veterinary Medicine, Università degli Studi di Milano, Via Giovanni Celoria 10, 20133 Milano, ItalyDavies Research Centre, School of Animal and Veterinary Sciences, University of Adelaide, Roseworthy, SA 5371, AustraliaDepartment of Animal Genetics, West Pomeranian University of Technology, Doktora Judyma 26, 71-466 Szczecin, PolandMastitis is an inflammatory disease of the mammary gland, which has a significant economic impact and is an animal welfare concern. This work examined the association between single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) with the incidence of clinical mastitis (CM). Using information from 16 half-sib pairs of Holstein-Friesian cows (32 animals in total) we searched for genomic regions that differed between a healthy (no incidence of CM) and a mastitis-prone (multiple incidences of CM) half-sib. Three cows with average sequence depth of coverage below 10 were excluded, which left 13 half-sib pairs available for comparisons. In total, 191 CNV regions were identified, which were deleted in a mastitis-prone cow, but present in its healthy half-sib and overlapped in at least nine half-sib pairs. These regions overlapped with exons of 46 genes, among which APP (BTA1), FOXL2 (BTA1), SSFA2 (BTA2), OTUD3 (BTA2), ADORA2A (BTA17), TXNRD2 (BTA17) and NDUFS6 (BTA20) have been reported to influence CM. Moreover, two duplicated CNV regions present in nine healthy individuals and absent in their mastitis-affected half-sibs overlapped with exons of a cholinergic receptor nicotinic α 10 subunit on BTA15 and a novel gene (ENSBTAG00000008519) on BTA27. One CNV region deleted in nine mastitis-affected sibs overlapped with two neighbouring long non-coding RNA sequences located on BTA12. Single nucleotide polymorphisms with differential genotypes between a healthy and a mastitis-affected sib included 17 polymorphisms with alternate alleles in eight affected and healthy half-sib families. Three of these SNPs were located introns of genes: MET (BTA04), RNF122 (BTA27) and WRN (BTA27). In summary, structural polymorphisms in form of CNVs, putatively play a role in susceptibility to CM. Specifically, sequence deletions have a greater effect on reducing resistance against mastitis, than sequence duplications have on increasing resistance against the disease.http://www.sciencedirect.com/science/article/pii/S1751731119000338copy number variationgenomic annotationsingle nucleotide polymorphismsomatic mutationswhole genome sequence |
| spellingShingle | J. Szyda M. Mielczarek M. Frąszczak G. Minozzi J.L. Williams K. Wojdak-Maksymiec The genetic background of clinical mastitis in Holstein-Friesian cattle Animal copy number variation genomic annotation single nucleotide polymorphism somatic mutations whole genome sequence |
| title | The genetic background of clinical mastitis in Holstein-Friesian cattle |
| title_full | The genetic background of clinical mastitis in Holstein-Friesian cattle |
| title_fullStr | The genetic background of clinical mastitis in Holstein-Friesian cattle |
| title_full_unstemmed | The genetic background of clinical mastitis in Holstein-Friesian cattle |
| title_short | The genetic background of clinical mastitis in Holstein-Friesian cattle |
| title_sort | genetic background of clinical mastitis in holstein friesian cattle |
| topic | copy number variation genomic annotation single nucleotide polymorphism somatic mutations whole genome sequence |
| url | http://www.sciencedirect.com/science/article/pii/S1751731119000338 |
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