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News Article

Gene linked with respiratory disease in Dalmatian dogs

Study provides new insights into the pathophysiology of familial fatal acute respiratory distress syndrome in Dalmatian dogs and has enabled the development of a genetic test for breeding purposes.

Researchers at the University of Helsinki have uncovered a novel gene associated with acute respiratory distress syndrome (ARDS) in dogs. They report their findings in PLoS Genetics.

ADRS has an early onset, with puppies or young dogs experiencing difficulty in breathing, which rapidly leads to death. The gene study used material which was previously collected at the University of Helsinki Veterinary Teaching Hospital as well as canine biobank samples.

“There are many causes for lethal acute respiratory distress. In humans, the underlying cause is often pneumonia, inflammation or pulmonary fibrosis. In Dalmatians, the cause is a genetic lung tissue disorder. Our study indicates that the disorder results from a defect in an anillin protein which binds to actin, the supporting microfilaments in the cell,” explains Professor Hannes Lohi.

“Anillin has an important role in cell division and growth. The lung injury in the affected dogs seems to be related to an abnormal regeneration capacity of the bronchiolar epithelium. The ANLN gene discovery is in line with this manifestation of the disease. In addition, some of the affected dogs only had one kidney, while some had hydrocephalus. This suggests that ANLN has broader significance for the development of the epithelium in different organs,” states Dr Marjo Hytönen.

“This gene discovery provides new insights into the mechanisms of lung injuries. Typically, lung injuries in the affected Dalmatians are associated with disorders in the cellular regeneration and intercellular junctions. The lack of anillin, the actin-binding protein, can perfectly explain the changes which we see on the cellular level. Due to the malformed epithelial structure, inhaled air is trapped in the alveolar level, over-extending the alveolar walls,” explains veterinary pathologist, Pernilla Syrjä.

In the future, the research results can help diagnose the illness and eradicate it from the breed.

“We tested more than 180 Dalmatians and 30 Pointers to find the mutation associated with the disease. Less than 2% of the Dalmatians carried the mutation, while none of the Pointers did. ARDS has been known for a long time in the breed, and breeders have learnt to avoid risk lines, which is likely the cause of the low carrier frequency. However, it is challenging to eradicate a condition from the breed in recessive disorders such as ARDS without genetic testing, as the carrier dogs do not have the disease. Both parents must be carriers for the disease to manifest, so affected puppies will have inherited the mutation from each parent,” states Saila Holopainen.

The gene test will be made available as part of the MyDogDNA test (

Read article: ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs by Saila Holopainen, Marjo K. Hytönen, Pernilla Syrjä, Meharji Arumilli, Anna-Kaisa Järvinen, Minna Rajamäki and Hannes Lohi, published in PLoS Genetics (2017) 13(2): e1006625, doi:10.1371/journal.pgen.1006625

Article details

  • Date
  • 14 March 2017
  • Source
  • University of Helsinki
  • Subject(s)
  • Animal breeding and genetics
  • Veterinary medicine