OMIA 001901-9913 : Abortion, RNASEH2B-related in Bos taurus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive Lethal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2014

Mapping: By conducting a GWAS on 4,072 Holstein-Friesian, 1,177 Jersey, 894 Danish Red, 1,714 Swedish Red, and 2,242 Finnish Ayrshire progeny-tested bulls, each genotyped with the 50K bovine SNP chip (yielding 37,123 informative SNPs across the five breeds), Kadri et al. (2014) identified a QTL for fertility on chromosome BTA12 in Finnish Ayrshires and Swedish Reds. By utilising additional genotyping and whole-genome next-gen sequencing data, these authors were able to attribute the QTL to a 662,463 bp deletion between 20,100,649 to 20,763,116 bp, which "encompasses three protein-encoding genes (RNASEH2B, GUCY1B2 and 3 out of 4 exons of FAM124A), one gene with uncertain coding potential (DLEU7) and two non-coding RNA genes (DLEU7-AS1 and LINC00371)".

Molecular basis: As reported by Kadri et al. (2014), one of the genes in the deletion (see Mapping section), namely RNASEH2B, is "known to cause embryonic lethality when knocked-out in the mouse". Subsequent investigations confirmed that this deletion is a recessive embryonic lethal in cattle but "is associated with a positive effect on milk yield and composition", which results in selection favouring heterozygotes (balancing selection), thereby maintaining the lethal deletion in the population.

Breed: Nordic Red.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
RNASEH2B ribonuclease H2 subunit B Bos taurus 12 NC_037339.1 (20346939..20423424) RNASEH2B Homologene, Ensembl, NCBI gene


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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Nordic Red Abortion due to deletion of RNASEH2B RNASEH2B deletion, gross (>20) A 662kb deletion encompases the gene RNASEH2B, lack of which creates embryonic lethality 2014 24391517


2014 Kadri, N.K., Sahana, G., Charlier, C., Iso-Touru, T., Guldbrandtsen, B., Karim, L., Nielsen, U.S., Panitz, F., Aamand, G.P., Schulman, N., Georges, M., Vilkki, J., Lund, M.S., Druet, T. :
A 660-kb deletion with antagonistic effects on fertility and milk production segregates at high frequency in nordic red cattle: additional evidence for the common occurrence of balancing selection in livestock. PLoS Genet 10(1):e1004049, 2014. Pubmed reference: 24391517. DOI: 10.1371/journal.pgen.1004049.

Edit History

  • Created by Frank Nicholas on 04 Jan 2014
  • Changed by Frank Nicholas on 04 Jan 2014
  • Changed by Frank Nicholas on 12 Feb 2014