Atypical Genotypes for Canine <em>Agouti Signaling Protein</em> 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...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2020-07-01
|
| Series: | Genes |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4425/11/7/739 |
| _version_ | 1797563401383182336 |
|---|---|
| author | Dayna L. Dreger Heidi Anderson Jonas Donner Jessica A. Clark Arlene Dykstra Angela M. Hughes Kari J. Ekenstedt |
| author_facet | Dayna L. Dreger Heidi Anderson Jonas Donner Jessica A. Clark Arlene Dykstra Angela M. Hughes Kari J. Ekenstedt |
| author_sort | Dayna L. Dreger |
| collection | DOAJ |
| 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 <i>Agouti Signaling Protein (ASIP)</i> locus in a commercial genotype cohort of 11,790 canids. Here we present additional data to characterize the occurrence of anomalous <i>ASIP</i> genotypes. We document the detection of combinations of three or four <i>ASIP</i> 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 <i>ASIP</i> genotyping and imply that <i>ASIP</i> should be analyzed via haplotype, rather than using only the existing allele hierarchy, in the future. |
| first_indexed | 2024-03-10T18:42:06Z |
| format | Article |
| id | doaj.art-01213a81be084eb198fa9b1ec279220e |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T18:42:06Z |
| publishDate | 2020-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-01213a81be084eb198fa9b1ec279220e2023-11-20T05:42:52ZengMDPI AGGenes2073-44252020-07-0111773910.3390/genes11070739Atypical Genotypes for Canine <em>Agouti Signaling Protein</em> Suggest Novel Chromosomal RearrangementDayna L. Dreger0Heidi Anderson1Jonas Donner2Jessica A. Clark3Arlene Dykstra4Angela M. Hughes5Kari J. Ekenstedt6Department of Basic Medical Sciences, College of Veterinary Medicine, Purdue University, West Lafayette, IN 47906, USAWisdom Health, FI-00290 Helsinki, FinlandWisdom Health, FI-00290 Helsinki, FinlandDepartment of Basic Medical Sciences, College of Veterinary Medicine, Purdue University, West Lafayette, IN 47906, USACoronado, Sturgeon County, AB T0A 1N4, CanadaWisdom Health, Vancouver, WA 98683, USADepartment of Basic Medical Sciences, College of Veterinary Medicine, Purdue University, West Lafayette, IN 47906, USACanine 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 <i>Agouti Signaling Protein (ASIP)</i> locus in a commercial genotype cohort of 11,790 canids. Here we present additional data to characterize the occurrence of anomalous <i>ASIP</i> genotypes. We document the detection of combinations of three or four <i>ASIP</i> 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 <i>ASIP</i> genotyping and imply that <i>ASIP</i> should be analyzed via haplotype, rather than using only the existing allele hierarchy, in the future.https://www.mdpi.com/2073-4425/11/7/739dogcoat colorcolour<i>ASIP</i>duplicationgene |
| spellingShingle | Dayna L. Dreger Heidi Anderson Jonas Donner Jessica A. Clark Arlene Dykstra Angela M. Hughes Kari J. Ekenstedt Atypical Genotypes for Canine <em>Agouti Signaling Protein</em> Suggest Novel Chromosomal Rearrangement Genes dog coat color colour <i>ASIP</i> duplication gene |
| title | Atypical Genotypes for Canine <em>Agouti Signaling Protein</em> Suggest Novel Chromosomal Rearrangement |
| title_full | Atypical Genotypes for Canine <em>Agouti Signaling Protein</em> Suggest Novel Chromosomal Rearrangement |
| title_fullStr | Atypical Genotypes for Canine <em>Agouti Signaling Protein</em> Suggest Novel Chromosomal Rearrangement |
| title_full_unstemmed | Atypical Genotypes for Canine <em>Agouti Signaling Protein</em> Suggest Novel Chromosomal Rearrangement |
| title_short | Atypical Genotypes for Canine <em>Agouti Signaling Protein</em> Suggest Novel Chromosomal Rearrangement |
| title_sort | atypical genotypes for canine em agouti signaling protein em suggest novel chromosomal rearrangement |
| topic | dog coat color colour <i>ASIP</i> duplication gene |
| url | https://www.mdpi.com/2073-4425/11/7/739 |
| work_keys_str_mv | AT daynaldreger atypicalgenotypesforcanineemagoutisignalingproteinemsuggestnovelchromosomalrearrangement AT heidianderson atypicalgenotypesforcanineemagoutisignalingproteinemsuggestnovelchromosomalrearrangement AT jonasdonner atypicalgenotypesforcanineemagoutisignalingproteinemsuggestnovelchromosomalrearrangement AT jessicaaclark atypicalgenotypesforcanineemagoutisignalingproteinemsuggestnovelchromosomalrearrangement AT arlenedykstra atypicalgenotypesforcanineemagoutisignalingproteinemsuggestnovelchromosomalrearrangement AT angelamhughes atypicalgenotypesforcanineemagoutisignalingproteinemsuggestnovelchromosomalrearrangement AT karijekenstedt atypicalgenotypesforcanineemagoutisignalingproteinemsuggestnovelchromosomalrearrangement |