Introduction and significance of research
Originally, the aim of the research was to maintain the high quality of semen from artificial insemination bulls and boars, as well as that of artificial insemination products. The goal was to identify and remove external and hereditary factors that have an adverse effect on fertility. In the last five years, the world has changed markedly. At the moment, we are prepared to take on new challenges, financial realities permitting.
Our research projects employ, among other methods, SNP (single nucleotide polymorphism) genotyping and various PCR techniques, such as sequencing and quantitative PCR. Research materials are stored in a private DNA and RNA collection where large amounts of interesting material not related to the projects are also stored. At the forefront, however, are research ideas originating from clinical findings, statistics and speculation.
The group’s motto is alea iacta est - the die is cast.
Central research areas / subjects / strategies / goals
Hereditary spermatogenesis disorders in Finnish boars and bulls
- We are studying the genetic causes underlying primordial germ cell migration disorders in, e.g., bovines. We have identified the ectopic position of the duplicated KIT gene in homozygous form as the fundamental genetic cause of primordial germ cell migration disorder and gonadal hypoplasia in both genders of Northern Finncattle and the Swedish Mountain breed.
- We are investigating the genetic cause for sperm tail immobility and abnormal development in certain Ayrshire bulls.
- TEX14 mutation in boars causing azoospermia, or the halting of spermatogenesis in the spermatocyte phase (due to intercellular bridges becoming inactive). This study is in its finishing stages. New cases have recently been found. This is the only natural mutation of the TEX14 gene that has been described.
- Bulls whose sperm motility is very poor even though the sperm plasma membranes are intact and morphology is otherwise normal. Research is conducted in broad cooperation with other parties and we are approaching a breakthrough. End results will be confirmed in the near future.
- Other spermatogenesis disorders in Ayrshire bulls.
Genetic causes of stillborn calves and/or calves with genetic disorders and abnormal development
- This study commenced approximately 5 years ago and has focused on the most common cattle breed in Finland, Ayrshire.
- The effects of the mutated and maternally imprinted MIMT1 gene in the PEG3 domain on late abortions and stillborn calves. In this research area, we continue to focus on new perspectives.
- Autosomal recessive gene mutation in chromosome 17 causing PIRM syndrome in homozygous calves (PIRM = ptosis, intellectual disability, retarded growth and mortality). At the moment, the gene mutation is being identified and characterised, in addition to which its effects on transcription and pathology are being analysed. A mutation in the UBE3B gene was found to be the cause of the disorder. It resembles a genetic disorder found in humans, Kaufman oculocerebrofacial syndrome, caused by a mutation in the same gene. This genetic mutation is fairly common in the Ayrshire breed, especially in its Canadian line.
- A study with the title “Other genetic causes of calf deaths and deformities ” is commencing, headed by Dr Heli Venhoranta.
Genetic susceptibility to pneumonia
We are investigating a gene mutation that makes Ayrshire calves more susceptible to lethal pneumonia. The study has begun and is progressing slowly but surely, financing problems notwithstanding. We are currently focused on four small areas in the set of chromosomes.
The research is managed by the Reproinnova group, which despite its small size, enjoys active cooperation with many Finnish and international partners.
Important partners within the Faculty of Veterinary Medicine
Other important partners in Finland include the Natural Resources Institute Finland LUKE (Dr Terhi Iso-Touru, Dr Anu Sironen and Dr Nina Schulman), Viking Genetics, Semex Finland, Faba, Figen, Finnpig, ProAgria accounting services, Dr Paula Syrjälä from the Kuopio regional office of the Finnish Food Safety Authority Evira, and Finnish cattle breeders (cattle and pigs).
International partners include Professor Ruedi Fries, Dr Hubert Pausch and Dr Kristof Flisikowski (Animal Breeding, Technical University of Munich, Germany), Professor Marek Switonski and Dr Christine Wurmser (Agricultural University of Poznan, Poland), Professor Lennart Söderquist (Swedish University of Agricultural Sciences, Uppsala), Professor Heriberto Rodriguez (Linköping) and Dr Szabolcs Nagy (Hungary).
Due to extremely meagre funding, the group has come up with a new financing model known as PYOR, or pay your own research. In other words, partners cover most of their expenses by themselves. Costs accrued from SNP genotyping and NGS sequencing are covered by us (with research grants awarded by the Finnish Veterinary Foundation and the Finnish Foundation of Veterinary Research).