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News Article

Congenital developmental disorder identified in Ayrshire cattle


The findings of a new study have practical implications for cattle breeding and provide a model for human Kaufman oculocerebrofacial syndrome.

A research group led by Professor Magnus Andersson at the University of Helsinki has discovered an inherited disease that causes ptosis, retarded growth, intellectual disability and mortality in Ayrshire calves. It is reported in BMC Genomics that the disease is associated with a mutation in the UBE3B gene.

An inherited disease that causes serious developmental disorders has been reported in the Finnish Ayrshire population since 2011. The phenotype has been defined as PIRM syndrome according to its typical features: ptosis, intellectual disability, retarded growth and mortality. The most easily noticeable symptom of affected calves is the ptosis. The exceptionally large upper eye lid gives a characteristic sleepy appearance of the affected animals. Some affected calves also suffered from feeding problems, minor structural changes of the head and muscular hypotonia. The disease is recessively inherited.

Heredity research traced the disease to a mutation in UBE3B gene, which partially prevents the normal expression of the gene. Mutation screening of the 129 Ayrshire AI bulls that are in use or have recently been used in Finland indicated a high carrier frequency of 17.1%.

"The results of this study can be utilized in bovine breeding programs. With the successful prevention of PIRM syndrome the animal welfare can be increased and at the same time the financial losses for farmers and breeding companies can be reduced" says PhD student Heli Venhoranta.

In humans, mutations in UBE3B gene are associated with Kaufman oculocerebrofacial syndrome with similar pathological findings as in PIRM syndrome. Furthermore, mice engineered to lack UBE3B expression were reported having increased lethality. 

The mutation in UBE3B gene might be connected to the recently discovered Ayrshire haplotype 1 (AH1). The haplotype encompasses the mutation in UBE3B gene and of those tested 129 AI bulls, 29 had a known haplotype status for AH1. AH1 haplotype is associated with reduced fertility which could imply embryonic losses that agree with the findings of UBE3B deficiency in mice. The AH1 haplotype was perfectly associated with the UBE3B mutation in this study cohort. The estimated frequency of the AH1 haplotype was 26% in the North America Ayrshire herd.

"The relationship between PIRM syndrome and AH1 haplotype needs to be clarified but our study does however provide an avenue for further investigation," concludes Venhoranta.

Read article: In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle by Heli Venhoranta, Hubert Pausch, Krzysztof Flisikowski, Christine Wurmser, Juhani Taponen, Helena Rautala, Alexander Kind, Angelika Schnieke, Ruedi Fries, Hannes Lohi and Magnus Andersson, published in BMC Genomics (2014) 15 (1): 890, DOI: 10.1186/1471-2164-15-890

Article details

  • Date
  • 21 January 2015
  • Source
  • University of Helsinki
  • Subject(s)
  • Animal breeding and genetics
  • Veterinary medicine