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Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle

BACKGROUND: Cases of albinism have been reported in several species including cattle. So far, research has identified many genes that are involved in this eye-catching phenotype. Thus, when two paternal Braunvieh half-sibs with oculocutaneous albinism were detected on a private farm, we were interes...

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Autores principales: Rothammer, Sophie, Kunz, Elisabeth, Seichter, Doris, Krebs, Stefan, Wassertheurer, Martina, Fries, Ruedi, Brem, Gottfried, Medugorac, Ivica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628493/
https://www.ncbi.nlm.nih.gov/pubmed/28982372
http://dx.doi.org/10.1186/s12711-017-0349-7
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author Rothammer, Sophie
Kunz, Elisabeth
Seichter, Doris
Krebs, Stefan
Wassertheurer, Martina
Fries, Ruedi
Brem, Gottfried
Medugorac, Ivica
author_facet Rothammer, Sophie
Kunz, Elisabeth
Seichter, Doris
Krebs, Stefan
Wassertheurer, Martina
Fries, Ruedi
Brem, Gottfried
Medugorac, Ivica
author_sort Rothammer, Sophie
collection PubMed
description BACKGROUND: Cases of albinism have been reported in several species including cattle. So far, research has identified many genes that are involved in this eye-catching phenotype. Thus, when two paternal Braunvieh half-sibs with oculocutaneous albinism were detected on a private farm, we were interested in knowing whether their phenotype was caused by an already known gene/mutation. RESULTS: 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. Subsequent comparisons of the sequence of this haplotype 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. We demonstrate an association of R45Q and T444I with the albino phenotype by targeted genotyping. CONCLUSIONS: Although the candidate gene SLC45A2 is known to be involved in albinism in different species, to date in cattle only mutations in the TYR and MITF genes were reported to be associated with albinism or albinism-like phenotypes. Thus, our study extends the list of genes that are associated with bovine albinism. However, further research and more samples from related animals are needed to elucidate if only one of these two single nucleotide polymorphisms or the combination of both is the actual causal variant. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s12711-017-0349-7) contains supplementary material, which is available to authorized users.
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spelling pubmed-56284932017-10-13 Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle Rothammer, Sophie Kunz, Elisabeth Seichter, Doris Krebs, Stefan Wassertheurer, Martina Fries, Ruedi Brem, Gottfried Medugorac, Ivica Genet Sel Evol Short Communication BACKGROUND: Cases of albinism have been reported in several species including cattle. So far, research has identified many genes that are involved in this eye-catching phenotype. Thus, when two paternal Braunvieh half-sibs with oculocutaneous albinism were detected on a private farm, we were interested in knowing whether their phenotype was caused by an already known gene/mutation. RESULTS: 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. Subsequent comparisons of the sequence of this haplotype 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. We demonstrate an association of R45Q and T444I with the albino phenotype by targeted genotyping. CONCLUSIONS: Although the candidate gene SLC45A2 is known to be involved in albinism in different species, to date in cattle only mutations in the TYR and MITF genes were reported to be associated with albinism or albinism-like phenotypes. Thus, our study extends the list of genes that are associated with bovine albinism. However, further research and more samples from related animals are needed to elucidate if only one of these two single nucleotide polymorphisms or the combination of both is the actual causal variant. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s12711-017-0349-7) contains supplementary material, which is available to authorized users. BioMed Central 2017-10-05 /pmc/articles/PMC5628493/ /pubmed/28982372 http://dx.doi.org/10.1186/s12711-017-0349-7 Text en © The Author(s) 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Short Communication
Rothammer, Sophie
Kunz, Elisabeth
Seichter, Doris
Krebs, Stefan
Wassertheurer, Martina
Fries, Ruedi
Brem, Gottfried
Medugorac, Ivica
Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle
title Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle
title_full Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle
title_fullStr Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle
title_full_unstemmed Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle
title_short Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle
title_sort detection of two non-synonymous snps in slc45a2 on bta20 as candidate causal mutations for oculocutaneous albinism in braunvieh cattle
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628493/
https://www.ncbi.nlm.nih.gov/pubmed/28982372
http://dx.doi.org/10.1186/s12711-017-0349-7
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