Genetic defect is causal for mysterious disease
Cattle breeders had been puzzled. For some time they had observed calves with shortened tails in some Holstein cattle herds. Some calves developed normal; others showed health problems, e.g. a hobbling gait.
Some animals were even unable to stand up. This was two years ago, when the Förderverein Biotechnologieforschung, the umbrella organisation of the German pig and cattle breeding and insemination associations, approached the Leibniz Institute for Farm Animal Biology (FBN) to investigate the unknown disease and to reveal its origin.
Under the lead of Prof. Christa Kühn, the scientists in Dummerstorf detected a phenomenon of evolutionary biology relevance, and, together with colleagues from the Tierärztliche Hochschule Hannover (www.tiho-hannover.de), solved the mystery of the disease. The results from their work applying latest molecular genetic tools were now published in the renowned scientific journal Genetics (http://www.genetics.org).
“Initially the veterinary surgeon Dr. Andreas Kromik had investigated suspicious calves and mates of the same age and sex on affected farms. During this endeavour, the farmers and cattle breeding associations strongly supported our work right from the beginning” highlighted Prof. Dr. Christa Kühn from the Institute of Genome Biology of the FBN. First clinical surveys revealed deformations of the vertebral column and malformations of the spinal cord, e.g., fluid-filled cavities, in addition to the aforesaid shortened tails.
Then, the veterinary surgeons in Hanover made a key observation when meticulously investigating the calves. “Some of the dissected calves had only six instead of the conventional seven cervical vertebrae. This is a violation of the strict rule valid since more than 200 million years that all mammals including humans share seven cervical vertebrae and that this feature is essential for survival. In humans, e.g., new-borns with congenital, non-inherited six cervical vertebrae have an extremely reduced life span.
3 billion genetic pieces – the 21st century needle-in-the-hay-stack challenge
The Leibniz scientists rapidly put up the hypothesis of a genetic defect being causal for this mystery of evolutionary biology, which had not been observed in any other species before. Inherited cases of tail malformations are known in some other species, e.g., in mice, dogs and cats, but no naturally occurring heritable reduction in the number of cervical vertebrae had ever been described before.
“Comparing the genetic material of healthy cattle with that of animals showing the defect, we could filter and sequence the three billion genetic pieces of a cow until we found the mutated chromosomal position that is unequivocally responsible for the defect”, explained Kühn. “Subsequently, we were even able to unambiguously identify the first individual with this mutation. Together with a genetic test, which we developed, this restricted a further spread of the deleterious defect in the cattle population.”
“Mutations in our germ cells are part of our life, in some sense they even are fundamental for biological diversity on our planet”, said Kühn, who recently took up a Professorship for Genetics of Disease Resistance at the University of Rostock. “These mutations happen; some have no, some have advantageous and some, like in this case, have very harmful negative consequences.
All living organisms, including humans, carry mutations. It is important, how we deal with them, especially in animal breeding, where we are responsible for the animals entrusted to our care. The very close and supportive collaboration of the partners within this project shows that together we can elucidate the background of such rare phenomenons and provide solutions for their handling.
*The Mammalian Cervical Vertebrae Blueprint Depends on the T (brachyury) Gene
Genetics genetics.114.169680; Early online January 22, 2015, doi: 10.1534/genetics.114.169680
Photos FBN/Joachim Kloock:
Recollection to a thrilling search for clues – Prof. Christa Kühn demonstrates the six cervical vertebrae of a sire. His dam was the founding animal for dissemination of the mutation.
Leibniz-Institut für Nutztierbiologie (FBN)
Wilhelm-Stahl-Allee 2, 18196 Dummerstorf
Institut für Genombiologie
Abteilungsleiterin Genomphysiologie: Prof. Dr. Christa Kühn
T +49 38208-68 709
Wissenschaftsorganisation Dr. Norbert K. Borowy
Wilhelm-Stahl-Allee 2, 18196 Dummerstorf
T +49 38208-68 605
Norbert K. Borowy | Leibniz-Institut für Nutzierbiologie (FBN)
Multi-institutional collaboration uncovers how molecular machines assemble
02.12.2016 | Salk Institute
Fertilized egg cells trigger and monitor loss of sperm’s epigenetic memory
02.12.2016 | IMBA - Institut für Molekulare Biotechnologie der Österreichischen Akademie der Wissenschaften GmbH
A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.
Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...
In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.
“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...
The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.
The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...
Broadband rotational spectroscopy unravels structural reshaping of isolated molecules in the gas phase to accommodate water
In two recent publications in the Journal of Chemical Physics and in the Journal of Physical Chemistry Letters, researchers around Melanie Schnell from the Max...
The efficiency of power electronic systems is not solely dependent on electrical efficiency but also on weight, for example, in mobile systems. When the weight of relevant components and devices in airplanes, for instance, is reduced, fuel savings can be achieved and correspondingly greenhouse gas emissions decreased. New materials and components based on gallium nitride (GaN) can help to reduce weight and increase the efficiency. With these new materials, power electronic switches can be operated at higher switching frequency, resulting in higher power density and lower material costs.
Researchers at the Fraunhofer Institute for Solar Energy Systems ISE together with partners have investigated how these materials can be used to make power...
16.11.2016 | Event News
01.11.2016 | Event News
14.10.2016 | Event News
02.12.2016 | Medical Engineering
02.12.2016 | Agricultural and Forestry Science
02.12.2016 | Physics and Astronomy