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OMIA:001821-9913 : Coat colour, albinism, oculocutaneous type IV in Bos taurus (taurine cattle)

In other species: Japanese medaka , western gorilla , dog

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 606574 (trait) , 227240 (trait) , 606202 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: 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).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SLC45A2 solute carrier family 45 member 2 Bos taurus 20 NC_037347.1 (39789159..39827992) SLC45A2 Homologene, Ensembl , NCBI gene

Variants

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.

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 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" rs5334474931 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" rs5334474883 2017 28982372 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2017). OMIA:001821-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

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.

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  • Created by Frank Nicholas on 11 Oct 2017
  • Changed by Frank Nicholas on 11 Oct 2017