OMIA 001821-9913 : Coat colour, albinism, oculocutaneous type IV in Bos taurus

In other species: Japanese medaka , western gorilla , dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 606574

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: Braunvieh.

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 (39789279..39827992) SLC45A2 Homologene, Ensembl, NCBI gene

Variants

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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
Braunvieh Coat colour, albinism, oculocutaneous type IV SLC45A2 missense UMD3.1 20 g.39829806G>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
Braunvieh Coat colour, albinism, oculocutaneous type IV SLC45A2 missense UMD3.1 20 g.39864148C>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

Reference


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.

Edit History


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