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Open AccessArticle

Genetics of Arthrogryposis and Macroglossia in Piemontese Cattle Breed

1
Department of Agricultural, Forest and Food Sciences, University of Torino, Largo Baccini 2, 10095 Grugliasco (TO), Italy
2
Associazione Nazionale Allevatori Bovini di Razza Piemontese, strada provinciale Trinita’ 31/A, 12061 Carrù (CN), Italy
3
Department of Agriculture, University of Sassari, Via De Nicola 9, 07100 Sassari, Italy
*
Author to whom correspondence should be addressed.
Animals 2020, 10(10), 1732; https://doi.org/10.3390/ani10101732
Received: 7 September 2020 / Revised: 17 September 2020 / Accepted: 18 September 2020 / Published: 24 September 2020
(This article belongs to the Special Issue Genetics of Animal Health and Disease in Livestock)
The study was carried out in order to investigate the genetic background of arthrogryposis and macroglossia in the Piemontese cattle breed, for which limited information is available so far. The genotyping of affected and healthy animals with a high-density chip and the subsequent genome-wide association study did not evidence a single strong association with the two pathologies. Therefore, for arthrogryposis, the results do not support the existence of a single-gene model, as reported for other breeds. Rather, 23 significant markers on different chromosomes were found, associated to arthrogryposis, to macroglossia, or to both pathologies, suggesting a more complex genetic mechanism underlying both diseases in the Piemontese breed. The significant single nucleotide polymorphisms (SNPs) allowed the identification of some genes (NTN3, KCNH1, KCNH2, and KANK3) for which a possible role in the pathologies can be hypothesized. The real involvement of these genes needs to be further investigated and validated.
Arthrogryposis and macroglossia are congenital pathologies known in several cattle breeds, including Piemontese. As variations in single genes were identified as responsible for arthrogryposis in some breeds, we decided: (i) to test the hypothesis of a similar genetic determinism for arthrogryposis in the Piemontese breed by genotyping affected and healthy animals with a high-density chip and applying genome-wide association study (GWAS), FST and canonical discriminant analysis (CDA) procedures, and (ii) to investigate with the same approach the genetic background of macroglossia, for which no genetic studies exist so far. The study included 125 animals (63 healthy, 30 with arthrogryposis, and 32 with macroglossia). Differently from what reported for other breeds, the analysis did not evidence a single strong association with the two pathologies. Rather, 23 significant markers on different chromosomes were found (7 associated to arthrogryposis, 11 to macroglossia, and 5 to both pathologies), suggesting a multifactorial genetic mechanism underlying both diseases in the Piemontese breed. In the 100-kb interval surrounding the significant SNPs, 20 and 26 genes were identified for arthrogryposis and macroglossia, respectively, with 12 genes in common to both diseases. For some genes (NTN3, KCNH1, KCNH2, and KANK3), a possible role in the pathologies can be hypothesized, being involved in processes related to muscular or nervous tissue development. The real involvement of these genes needs to be further investigated and validated. View Full-Text
Keywords: Piemontese breed; arthrogryposis; macroglossia; genetic model Piemontese breed; arthrogryposis; macroglossia; genetic model
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MDPI and ACS Style

Di Stasio, L.; Albera, A.; Pauciullo, A.; Cesarani, A.; Macciotta, N.P.P.; Gaspa, G. Genetics of Arthrogryposis and Macroglossia in Piemontese Cattle Breed. Animals 2020, 10, 1732.

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