OMIA 002180-9823 : Abortion due to haplotype DU1 in Sus scrofa

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive Lethal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2019

Species-specific description: Derks et al. (2019) identified five relatively frequent haplotypes for which there was either a deficit or a complete lack of homozygotes in large populations of Landrace (28,085) and Duroc (11,255). One such haplotype (DU1) was found in the Duroc population and is the subject of this entry.

Molecular basis: Derks et al. (2019): "splice-donor mutation (12:g.38922102G>A) in the Transcriptional adapter-Ada2 (TADA2A) gene is in complete LD with the DU1 haplotype . . . . The mutation affects a conserved GT splice dinucleotide site at the 5’ end of the intron between exons 13 and 14 . . . the splice-donor mutation affects TADA2A splicing with different consequences (both exon skipping and intron retention) in carrier animals, but in all cases result in a compromised, non-functional transcript."

Prevalence: Derks et al. (2019) reported the carrier frequency of haplotype DU1 as 9.6%, with zero observed homozygotes. The reduction in litter size (total number born) in carrier x carrier matings, compared with carrier x non-carrier matings, was 21.6%.

Breed: Duroc.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TADA2A transcriptional adaptor 2A Sus scrofa 12 NC_010454.2 (40847905..40809992) TADA2A 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
Duroc Embryonic lethality TADA2A splicing Sscrofa11.1 12 g.38922102G>A 2019 30875370


2019 Derks, M.F.L., Gjuvsland, A.B., Bosse, M., Lopes, M.S., van Son, M., Harlizius, B., Tan, B.F., Hamland, H., Grindflek, E., Groenen, M.A.M., Megens, H.J., Derks, M.F.L., Gjuvsland, A.B., Bosse, M., Lopes, M.S., van Son, M., Harlizius, B., Tan, B.F., Hamland, H., Grindflek, E., Groenen, M.A.M., Megens, H.J. :
Loss of function mutations in essential genes cause embryonic lethality in pigs. PLoS Genet 15:e1008055, 2019. Pubmed reference: 30875370. DOI: 10.1371/journal.pgen.1008055.

Edit History

  • Created by Frank Nicholas on 25 Mar 2019
  • Changed by Frank Nicholas on 26 Mar 2019
  • Changed by Imke Tammen2 on 27 May 2021