OMIA 001821-9913 : Coat colour, albinism, oculocutaneous type IV in Bos taurus
Category: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2017
History: The paper by Rothammer et al. (2017) is the first published report of oculocutaneous albinism in cattle being due to mutations in the SLC45A2 gene.
Mapping: Rothammer et al. (2017): "Analysis of genotyping data (50K) of the two albino individuals, their mothers and five other relatives identified a 47.61-Mb candidate haplotype on Bos taurus chromosome BTA20"
Molecular basis: Rothammer et al. (2017): "comparisons of the sequence of [the candidate] haplotype [see Genetic mapping section] with sequence data from four Braunvieh sires and the Aurochs genome identified two possible candidate causal mutations at positions 39,829,806 bp (G/A; R45Q) and 39,864,148 bp (C/T; T444I) that were absent in 1682 animals from various bovine breeds included in the 1000 bull genomes project. Both polymorphisms represent coding variants in the SLC45A2 gene, for which the human equivalent harbors numerous variants associated with oculocutaneous albinism type 4. . . . To determine which of the two mutations or even if the combination of both is causal for oculocutaneous albinism in Braunvieh, it would be necessary to produce additional cases and investigate them more precisely."
Clinical features: Rothammer et al. (2017): "Both animals were fathered by the same sire and displayed a phenotype that was characterized by a complete lack of pigment in the skin, hair, eyes, horns and hooves. The albino phenotype was not present in either of their parents, which were half-sibs."
Breed: Brown Swiss (Cattle) (VBO_0000166).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC45A2||solute carrier family 45 member 2||Bos taurus||20||NC_037347.1 (39789279..39827992)||SLC45A2||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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|847||Brown Swiss (Cattle)||Coat colour, albinism, oculocutaneous type IV||SLC45A2||missense||Naturally occurring variant||ARS-UCD1.2||20||g.39790069G>A||c.134G>A||p.(R45Q)||Important note by Rothammer et al. (2017): "To determine which of the two mutations or even if the combination of both is causal for oculocutaneous albinism in Braunvieh, it would be necessary to produce additional cases and investigate them more precisely"||2017||28982372||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|848||Brown Swiss (Cattle)||Coat colour, albinism, oculocutaneous type IV||SLC45A2||missense||Naturally occurring variant||ARS-UCD1.2||20||g.39824417C>T||c.1331C>T||p.(T444I)||Important note by Rothammer et al. 92017): "To determine which of the two mutations or even if the combination of both is causal for oculocutaneous albinism in Braunvieh, it would be necessary to produce additional cases and investigate them more precisely"||2017||28982372||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||Bhati, M., Kadri, N.K., Crysnanto, D., Pausch, H. :>|
|Assessing genomic diversity and signatures of selection in Original Braunvieh cattle using whole-genome sequencing data. BMC Genomics 21:27, 2020. Pubmed reference: 31914939. DOI: 10.1186/s12864-020-6446-y.|
|2017||Rothammer, S., Kunz, E., Seichter, D., Krebs, S., Wassertheurer, M., Fries, R., Brem, G., Medugorac, I. :>|
|Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle. Genet Sel Evol 49:73, 2017. Pubmed reference: 28982372. DOI: 10.1186/s12711-017-0349-7.|
- Created by Frank Nicholas on 11 Oct 2017
- Changed by Frank Nicholas on 11 Oct 2017