Press release: Breakthrough in genetics

Nr. 78/2016 - 02.05.2016

Scientists discover cause of lethal genetic disorder in Holstein Friesian dairy cows

(pug) Scientists at Göttingen University have discovered the cause of a worldwide lethal genetic defect affecting Holstein Friesian dairy cows. This finding now forms the basis for a direct genetic test. The Göttingen researchers worked collaboratively with the Schönow Institute for Reproduction in Agricultural Livestock (IFN), the German Holstein Association and IT-Solutions for Animal Production (VIT). The results have been published in the scientific journal PLOS One.

For years, there has been a worldwide decline in the reproductive performance in Holstein cattle. Even under optimal herd management conditions, prenatal death of calves has been occurring with an increasing frequency. These early embryonic deaths can be attributed to various causes, whilst leading to substantial losses in cattle breeding every year. The scientists under Professor Bertram Brenig and Professor Ekkehard Schütz at Göttingen University's Institute of Veterinary Medicine have now identified one important causative gene mutation.

"Using the latest molecular high throughput genotyping and sequencing technologies, we were able to find the proverbial needle in the haystack amongst the around three billion chemical components of the bovine genome, the so-called base pairs," Professor Schütz explains. This genetic disorder is caused by a deletion spanning around 138,000 base pairs on bovine chromosome 9. This affects a gene that is indispensable for cellular metabolism, the loss of which leads to stillbirths.

"Moreover, we discovered an interesting molecular mechanism relating to the loss of this chromosomal region," adds Professor Brenig. In a sample of around 2,000 animals, the scientists determined a frequency of 5.5 percent carriers of the genetic defect. According to data from the German Holstein Association, currently around 1.86 million dairy cattle are registered in Germany, around 100,000 of which might therefore bear this genetic defect.

Original publication: Ekkehard Schütz et al. The Holstein Friesian lethal haplotype 5 (HH5) results from a complete deletion of TFB1M and cholesterol deficiency (CDH) from an ERV-(LTR) insertion into the coding region of APOB. PLOS One 2016. Doi: 10.1371/journal.pone.0154602.

Contact address:
Professor Bertram Brenig
Georg-August-Universität Göttingen
Faculty of Agricultural Sciences
Institute of Veterinary Medicine
Burckhardtweg 2, 37077 Göttingen, Germany
Phone +49 (0)551 39-33383
E-mail: bbrenig@gwdg.de
Website: www.tieraerztliches-institut.uni-goettingen.de