Health
POU1F1 gene mutant associated with Karelian Bear Dog’s growth hormone deficiency
A study conducted at the University of Helsinki investigated pituitary dwarfing in Karelian Bear Dog and found a link to a mutant of the POU1F1 gene. This result also helps to understand the importance of genes to the development and function of the human pituitary gland.
The pituitary gland is a pea-sized endocrine gland composed of two structurally and functionally separate parts known as the anterior and posterior lobes. The anterior pituitary gland secretes six hormones that are essential for growth, reproduction, and other basic physiological functions. Abnormal development of the pituitary gland, or hypopituitarism, can cause a mild or complete deficiency of one or more pituitary hormones, which manifests itself in a wide variety of symptoms. Tumors primarily cause hypopituitarism in humans, but congenital factors may also be associated with the disorder.
The POU1F1 gene regulates the development of the anterior pituitary gland, disruption of its function results in hormonal changes, which are demonstrated in affected dogs as dwarfism and abnormal coat. Developed on the basis of the findings, genetic testing supports diagnostic and reproductive programs to eradicate disease from varieties.
“Approximately 30 genes are associated with human hypopituitarism, many of which are regulatory genes that affect pituitary development. In addition to humans, pituitary dysfunction occurs in mice and dogs. Hypopituitarism has been present in German shepherds In the case of Calerian bear dogs, the disease was already reported in Denmark 45 years ago, but is now a cause associated with the POU1F1 gene. This is the second new dog model in humans. Pituitary disease is very important, “says Professor Hannes Lohi.
Samples from this study were collected from symptomatic and asymptomatic Karelian Bear Dogs in Finland and Sweden.
“We were able to take samples from a total of eight sick puppies from five different litters. The puppies were 20 centimeters smaller than normal, many with puppy-like coats and considerable hair loss. This is a classic example of the disease. Symptoms varied. An analysis of more than 8,000 dogs also found a small number of carriers of the POU1F1 variant in the Laponian Helders. ” , Says Dr. Kaisa Kyöstilä, the first author of the article.
This study confirmed that the disease is recessive. That is, affected dogs inherit the genetic mutation from both parents. Of the Karelian Bear Dogs, only 8% of breeds are defective and carriers do not develop the disease. Research-based genetic testing can be used to identify carriers, avoid carrier- and carrier combinations in breeding, and completely eradicate this serious disease from varieties.
The latest discovery of the POU1F1 gene is the third disease gene already described in Karelian Bear Dog. The research group previously described the discovery of genes associated with dwarfism (Finnish-only link) and hypophosphatosis.
Source:
Journal reference:
Kyöstilä, K. , et al. (2021) An intron variant of POU1F1 associated with canine pituitary dwarfism. Human genetics. doi.org/10.1007/s00439-021-02259-2..
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