A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle

Schwarzenbacher, Hermann; Burgstaller, Johann; Seefried, Franz R; Wurmser, Christine; Hilbe, Monika; Jung, Simone; Fuerst, Christian; Dinhopl, Nora; Weissenböck, Herbert; Fuerst-Waltl, Birgit; Dolezal, Marlies; Winkler, Reinhard; Grueter, Oskar; Bleul, Ulrich; Wittek, Thomas; Fries, Ruedi; Pausch, Hubert

doi:10.5167/uzh-125645

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Schwarzenbacher, H., Burgstaller, J., Seefried, F. R., Wurmser, C., Hilbe, M., Jung, S., Fuerst, C., Dinhopl, N., Weissenböck, H., Fuerst-Waltl, B., Dolezal, M., Winkler, R., Grueter, O., Bleul, U., Wittek, T., Fries, R., & Pausch, H. (2016). A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle. BMC Genomics, 17, 1–13. https://doi.org/10.1186/s12864-016-2742-y

Abstract

Background Haplotypes with reduced or missing homozygosity may harbor deleterious alleles that compromise juvenile survival. A scan for homozygous haplotype deficiency revealed a short segment on bovine chromosome 19 (Braunvieh haplotype 2, BH2) that was associated with high juvenile mortality in Braunvieh cattle. However, the molecular genetic underpinnings and the pathophysiology of BH2 remain to be elucidated. Results The frequency of BH2 was 6.5 % in 8,446 Braunvieh animals from the national bovine genome databases. Both perinatal