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Atypical Genotypes for Canine Agouti Signaling Protein Suggest Novel Chromosomal Rearrangement

Canine coat color is a readily observed phenotype of great interest to dog enthusiasts; it is also an excellent avenue to explore the mechanisms of genetics and inheritance. As such, multiple commercial testing laboratories include basic color alleles in their popular screening panels, allowing for...

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Autores principales: Dreger, Dayna L., Anderson, Heidi, Donner, Jonas, Clark, Jessica A., Dykstra, Arlene, Hughes, Angela M., Ekenstedt, Kari J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397341/
https://www.ncbi.nlm.nih.gov/pubmed/32635139
http://dx.doi.org/10.3390/genes11070739
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author Dreger, Dayna L.
Anderson, Heidi
Donner, Jonas
Clark, Jessica A.
Dykstra, Arlene
Hughes, Angela M.
Ekenstedt, Kari J.
author_facet Dreger, Dayna L.
Anderson, Heidi
Donner, Jonas
Clark, Jessica A.
Dykstra, Arlene
Hughes, Angela M.
Ekenstedt, Kari J.
author_sort Dreger, Dayna L.
collection PubMed
description Canine coat color is a readily observed phenotype of great interest to dog enthusiasts; it is also an excellent avenue to explore the mechanisms of genetics and inheritance. As such, multiple commercial testing laboratories include basic color alleles in their popular screening panels, allowing for the creation of genotyped datasets at a scale not before appreciated in canine genetic research. These vast datasets have revealed rare genotype anomalies that encourage further exploration of color and pattern inheritance. We previously reported the simultaneous presence of greater than two allele variants at the Agouti Signaling Protein (ASIP) locus in a commercial genotype cohort of 11,790 canids. Here we present additional data to characterize the occurrence of anomalous ASIP genotypes. We document the detection of combinations of three or four ASIP allele variants in 17 dog breeds and Dingoes, at within-breed frequencies of 1.32–63.34%. We analyze the potential impact on phenotype that these allele combinations present, and propose mechanisms that could account for the findings, including: gene recombination, duplication, and incorrect causal variant identification. These findings speak to the accuracy of industry-wide protocols for commercial ASIP genotyping and imply that ASIP should be analyzed via haplotype, rather than using only the existing allele hierarchy, in the future.
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spelling pubmed-73973412020-08-16 Atypical Genotypes for Canine Agouti Signaling Protein Suggest Novel Chromosomal Rearrangement Dreger, Dayna L. Anderson, Heidi Donner, Jonas Clark, Jessica A. Dykstra, Arlene Hughes, Angela M. Ekenstedt, Kari J. Genes (Basel) Article Canine coat color is a readily observed phenotype of great interest to dog enthusiasts; it is also an excellent avenue to explore the mechanisms of genetics and inheritance. As such, multiple commercial testing laboratories include basic color alleles in their popular screening panels, allowing for the creation of genotyped datasets at a scale not before appreciated in canine genetic research. These vast datasets have revealed rare genotype anomalies that encourage further exploration of color and pattern inheritance. We previously reported the simultaneous presence of greater than two allele variants at the Agouti Signaling Protein (ASIP) locus in a commercial genotype cohort of 11,790 canids. Here we present additional data to characterize the occurrence of anomalous ASIP genotypes. We document the detection of combinations of three or four ASIP allele variants in 17 dog breeds and Dingoes, at within-breed frequencies of 1.32–63.34%. We analyze the potential impact on phenotype that these allele combinations present, and propose mechanisms that could account for the findings, including: gene recombination, duplication, and incorrect causal variant identification. These findings speak to the accuracy of industry-wide protocols for commercial ASIP genotyping and imply that ASIP should be analyzed via haplotype, rather than using only the existing allele hierarchy, in the future. MDPI 2020-07-03 /pmc/articles/PMC7397341/ /pubmed/32635139 http://dx.doi.org/10.3390/genes11070739 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Dreger, Dayna L.
Anderson, Heidi
Donner, Jonas
Clark, Jessica A.
Dykstra, Arlene
Hughes, Angela M.
Ekenstedt, Kari J.
Atypical Genotypes for Canine Agouti Signaling Protein Suggest Novel Chromosomal Rearrangement
title Atypical Genotypes for Canine Agouti Signaling Protein Suggest Novel Chromosomal Rearrangement
title_full Atypical Genotypes for Canine Agouti Signaling Protein Suggest Novel Chromosomal Rearrangement
title_fullStr Atypical Genotypes for Canine Agouti Signaling Protein Suggest Novel Chromosomal Rearrangement
title_full_unstemmed Atypical Genotypes for Canine Agouti Signaling Protein Suggest Novel Chromosomal Rearrangement
title_short Atypical Genotypes for Canine Agouti Signaling Protein Suggest Novel Chromosomal Rearrangement
title_sort atypical genotypes for canine agouti signaling protein suggest novel chromosomal rearrangement
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397341/
https://www.ncbi.nlm.nih.gov/pubmed/32635139
http://dx.doi.org/10.3390/genes11070739
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