Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers
A GWAS was performed for inborn X-linked facial dysmorphia with severe growth retardation in Labrador Retrievers. This lethal condition was mapped on the X chromosome at 17–21 Mb and supported by eight SNPs in complete LD. Dams of affected male puppies were heterozygous for the significantly associa...
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ftopenagrar:oai:www.openagrar.de:openagrar_mods_00054748 2024-09-15T18:01:13+00:00 Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers Vasiliadis, D. Dierks, Claudia Hoffmann, H. Hellige, M. Hewicker-Trautwein, M. Metzger, J. Distl, O. 2019-11-05 https://doi.org/10.1111/age.12875 https://www.openagrar.de/receive/openagrar_mods_00054748 https://www.openagrar.de/servlets/MCRFileNodeServlet/openagrar_derivate_00026147/SD2019531_SD202035.pdf https://onlinelibrary.wiley.com/doi/full/10.1111/age.12875 eng eng Animal genetics -- Anim Genet -- 1365-2052 -- 0268-9146 -- 0268-9154 -- 1472889-8 -- 632766-7 -- 10.1111/(ISSN)1365-2052 -- https://onlinelibrary.wiley.com/journal/13652052 -- http://www.bibliothek.uni-regensburg.de/ezeit/?1472889 https://doi.org/10.1111/age.12875 https://www.openagrar.de/receive/openagrar_mods_00054748 https://www.openagrar.de/servlets/MCRFileNodeServlet/openagrar_derivate_00026147/SD2019531_SD202035.pdf https://onlinelibrary.wiley.com/doi/full/10.1111/age.12875 https://creativecommons.org/licenses/by/4.0/ public info:eu-repo/semantics/openAccess article Text ddc:570 association Canis lupus familiaris facial dysmorphia RPS6KA3 X chromosome article Text doc-type:article 2019 ftopenagrar https://doi.org/10.1111/age.1287510.1111/(ISSN)1365-2052 2024-07-08T23:56:25Z A GWAS was performed for inborn X-linked facial dysmorphia with severe growth retardation in Labrador Retrievers. This lethal condition was mapped on the X chromosome at 17–21 Mb and supported by eight SNPs in complete LD. Dams of affected male puppies were heterozygous for the significantly associated SNPs and male affected puppies carried the associated alleles hemizygously. In the near vicinity to the associated region, RPS6KA3 was identified as a candidate gene causing facial dysmorphia in humans and mice known as Coffin–Lowry syndrome. Haplotype analysis showed significant association with the phenotypes of all 18 animals under study. This haplotype was validated through normal male progeny from a dam with the not-associated haplotype on both X chromosomes but male affected full-sibs with the associated haplotype. Article in Journal/Newspaper Canis lupus OpenAgrar (OA) Animal Genetics 51 1 122 126 |
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English |
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article Text ddc:570 association Canis lupus familiaris facial dysmorphia RPS6KA3 X chromosome |
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article Text ddc:570 association Canis lupus familiaris facial dysmorphia RPS6KA3 X chromosome Vasiliadis, D. Dierks, Claudia Hoffmann, H. Hellige, M. Hewicker-Trautwein, M. Metzger, J. Distl, O. Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers |
topic_facet |
article Text ddc:570 association Canis lupus familiaris facial dysmorphia RPS6KA3 X chromosome |
description |
A GWAS was performed for inborn X-linked facial dysmorphia with severe growth retardation in Labrador Retrievers. This lethal condition was mapped on the X chromosome at 17–21 Mb and supported by eight SNPs in complete LD. Dams of affected male puppies were heterozygous for the significantly associated SNPs and male affected puppies carried the associated alleles hemizygously. In the near vicinity to the associated region, RPS6KA3 was identified as a candidate gene causing facial dysmorphia in humans and mice known as Coffin–Lowry syndrome. Haplotype analysis showed significant association with the phenotypes of all 18 animals under study. This haplotype was validated through normal male progeny from a dam with the not-associated haplotype on both X chromosomes but male affected full-sibs with the associated haplotype. |
format |
Article in Journal/Newspaper |
author |
Vasiliadis, D. Dierks, Claudia Hoffmann, H. Hellige, M. Hewicker-Trautwein, M. Metzger, J. Distl, O. |
author_facet |
Vasiliadis, D. Dierks, Claudia Hoffmann, H. Hellige, M. Hewicker-Trautwein, M. Metzger, J. Distl, O. |
author_sort |
Vasiliadis, D. |
title |
Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers |
title_short |
Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers |
title_full |
Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers |
title_fullStr |
Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers |
title_full_unstemmed |
Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers |
title_sort |
genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in labrador retrievers |
publishDate |
2019 |
url |
https://doi.org/10.1111/age.12875 https://www.openagrar.de/receive/openagrar_mods_00054748 https://www.openagrar.de/servlets/MCRFileNodeServlet/openagrar_derivate_00026147/SD2019531_SD202035.pdf https://onlinelibrary.wiley.com/doi/full/10.1111/age.12875 |
genre |
Canis lupus |
genre_facet |
Canis lupus |
op_relation |
Animal genetics -- Anim Genet -- 1365-2052 -- 0268-9146 -- 0268-9154 -- 1472889-8 -- 632766-7 -- 10.1111/(ISSN)1365-2052 -- https://onlinelibrary.wiley.com/journal/13652052 -- http://www.bibliothek.uni-regensburg.de/ezeit/?1472889 https://doi.org/10.1111/age.12875 https://www.openagrar.de/receive/openagrar_mods_00054748 https://www.openagrar.de/servlets/MCRFileNodeServlet/openagrar_derivate_00026147/SD2019531_SD202035.pdf https://onlinelibrary.wiley.com/doi/full/10.1111/age.12875 |
op_rights |
https://creativecommons.org/licenses/by/4.0/ public info:eu-repo/semantics/openAccess |
op_doi |
https://doi.org/10.1111/age.1287510.1111/(ISSN)1365-2052 |
container_title |
Animal Genetics |
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51 |
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1 |
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122 |
op_container_end_page |
126 |
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1810438395945549824 |