OMIA 002238-9913 : Ichthyosis, ABCA12-related in Bos taurus
Whole-genome sequencing of the affected Shorthorn calf described by O'Rourke et al. (2017), and subsequent checking for deleterious variants in functional candidate genes, enabled Woolley et al. (2019) to identify "a likely causal missense variant on chromosome 2 in the ABCA12 gene (NM_001191294.2:c.6776T>C)". The authors also reported that "Sanger sequencing of the affected calf and the dam confirmed the variant was homozygous in the affected calf and heterozygous in the dam."
Eager et al. (2020): "Sanger sequencing of all 53 exons" of the functional candidate gene ABCA12 in an affected still-born Poll Hereford led to the discovery of a likely causal variant, namely a "novel mutation found in exon 34, which was an insertion of a cytosine at position BTA 2:103043495–103043496 or ENSBTAT00000004518.6:c.5689‐5690insC . . . . The frameshift is predicted to result in a premature stop codon at residue 1816, truncating the protein by 781 amino acids – ENSBTAP00000004518.6:p.(Ser1784Ilefs*33)".Clinical features: In the words of Charlier et al. (2008), "Affected calves show cutaneous lesions, with deep fissures separating hyperkeratotic skin plaques and eversion of mucocutaneous junctions (ectropion and eclabium), reminiscent of harlequin ichthyosis in humans". Prevalence: O'Rourke et al. (2017) reported that "The known mutation (H1935R) in gene ABCA12, responsible for ichthyosis fetalis in Chianina cattle, was shown to be absent in . . . [one Polled Hereford and one Shorthorn affected calf] and their obligate heterozygous parents."
Woolley et al. (2019) reported that "genotyping of 130 Shorthorn animals from the same property [as the affected calf described by O'Rourke et al. (2017)] revealed an estimated [c.6776T>C] allele frequency of 3.8%."Breeds: Chianina, Shorthorn. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ABCA12||ATP binding cassette subfamily A member 12||Bos taurus||2||NC_037329.1 (103202095..103002532)||ABCA12||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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|
|Poll Hereford||Ichthyosis, ABCA12-related||ABCA12||insertion, small (<=20)||ARC-UCD1.2||2||g.103043495_103043496insC||c.5689_5690insC||p.(Ser1784Ilefs*33)||BTA 2:103043495–103043496insC; ENSBTAT00000004518.6:c.5689‐5690insC; ENSBTAP00000004518.6:p.(Ser1784Ilefs*33) (Eager et al., 2020)||ss7094285003||2020||32567073|
|Shorthorn||Ichthyosis, ABCA12-related||ABCA12||missense||ARS-UCD1.2||2||g.103016791T>C||c.6776T>C||p.(Leu2259Pro)||NM_001191294.2:c.6776T>C; NP_001178223.2:p.(Leu2259Pro)||2019||31568573|
|Chianina||Ichthyosis, ABCA12-related||ABCA12||missense||UMD3.1||2||g.103543077A>G||c.5,804A>G||p.H1,935R||2008||18344998||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2020||Eager, K.L.M., Conyers, L.E., Woolley, S.A., Tammen, I., O'Rourke, B.A. :|
|A novel ABCA12 frameshift mutation segregates with ichthyosis fetalis in a Polled Hereford calf. Anim Genet :, 2020. Pubmed reference: 32567073. DOI: 10.1111/age.12973.|
|2019||Woolley, S.A., Eager, K.L.M., Häfliger, I.M., Bauer, A., Drögemüller, C., Leeb, T., O'Rourke, B.A., Tammen, I. :|
|An ABCA12 missense variant in a Shorthorn calf with ichthyosis fetalis. Anim Genet 50:749-752, 2019. Pubmed reference: 31568573. DOI: 10.1111/age.12856.|
|2017||O'Rourke, B.A., Kelly, J., Spiers, Z.B., Shearer, P.L., Porter, N.S., Parma, P., Longeri, M. :|
|Ichthyosis fetalis in Polled Hereford and Shorthorn calves. J Vet Diagn Invest :, 2017. Pubmed reference: 28782451. DOI: 10.1177/1040638717724186.|
|2008||Charlier, C., Coppieters, W., Rollin, F., Desmecht, D., Agerholm, JS., Cambisano, N., Carta, E., Dardano, S., Dive, M., Fasquelle, C., Frennet, JC., Hanset, R., Hubin, X., Jorgensen, C., Karim, L., Kent, M., Harvey, K., Pearce, BR., Simon, P., Tama, N., Nie, H., Vandeputte, S., Lien, S., Longeri, M., Fredholm, M., Harvey, RJ., Georges, M. :|
|Highly effective SNP-based association mapping and management of recessive defects in livestock. Nat Genet 40:449-54, 2008. Pubmed reference: 18344998. DOI: 10.1038/ng.96.|
|Dardano, S., Gandolfi, B., Parma, P., Polli, M., Bighignoli, B., Strillacci, MG., Cozzi, MC., Molteni, L., Longeri, M. :|
|Characterization of Bovine TGM1 and Exclusion as Candidate Gene for Ichthyosis in Chianina. J Hered 99:81-83, 2008. Pubmed reference: 18165261. DOI: 10.1093/jhered/esm101.|
|2006||Molteni, L., Dardano, S., Parma, P., Polli, M., De Giovanni, AM., Sironi, G., Longeri, M. :|
|Ichthyosis in Chianina cattle. Vet Rec 158:412-4, 2006. Pubmed reference: 16565341.|
|Testoni, S., Zappulli, V., Gentile, A. :|
|Ichthyosis in two Chianina calves. Dtsch Tierarztl Wochenschr 113:351-4, 2006. Pubmed reference: 17009813.|
- Created by Frank Nicholas on 31 Jan 2020
- Changed by Frank Nicholas on 23 Jun 2020