{"doi":"10.1002/vetr.2832","title":"Copper toxicosis in Bedlington terriers is associated with multiple independent genetic variants","abstract":"<jats:title>Abstract</jats:title>\n                  <jats:sec>\n                    <jats:title>Background</jats:title>\n                    <jats:p>\n                      Bedlington terrier copper toxicosis (CT) is due to a homozygous exon deletion in\n                      <jats:italic>COMMD1</jats:italic>\n                      . CT also occurs in Bedlingtons lacking this deletion. An association with two\n                      <jats:italic>ABCA12</jats:italic>\n                      single nuceotide polymorphism (SNP) splice variants was reported. Labrador retriever CT is associated with a missense mutation in\n                      <jats:italic>ATP7B</jats:italic>\n                      , and with a protective mutation in\n                      <jats:italic>ATP7A</jats:italic>\n                      .\n                    </jats:p>\n                  </jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods</jats:title>\n                    <jats:p>\n                      Liver and DNA samples from 24 affected and 10 unaffected Bedlingtons were assessed for copper and genetic variants. Allelic frequencies were compared. The\n                      <jats:italic>ATP7B</jats:italic>\n                      mutation frequency was investigated in 144 dogs of other breeds.\n                    </jats:p>\n                  </jats:sec>\n                  <jats:sec>\n                    <jats:title>Results</jats:title>\n                    <jats:p>\n                      The\n                      <jats:italic>ABCA12</jats:italic>\n                      SNPs showed no differences between groups. The\n                      <jats:italic>COMMD1</jats:italic>\n                      deletion was less frequent in unaffected than in affected dogs and in affected dogs post‐2001 than pre‐2001. The\n                      <jats:italic>ATP7B</jats:italic>\n                      mutation was more frequent in affected than unaffected Bedlingtons. Thirty‐five of 144 dogs of other breeds were homo‐ or heterozygous for the\n                      <jats:italic>ATP7B</jats:italic>\n                      mutation. The\n                      <jats:italic>ATP7A</jats:italic>\n                      mutation was absent from Bedlingtons.\n                    </jats:p>\n                  </jats:sec>\n                  <jats:sec>\n                    <jats:title>Limitations</jats:title>\n                    <jats:p>Clinical information and qualitative copper measurements were unavailable for most dogs.</jats:p>\n                  </jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion</jats:title>\n                    <jats:p>\n                      The\n                      <jats:italic>COMMD1</jats:italic>\n                      deletion remains present in Bedlington terriers but is no longer the primary cause of CT.\n                      <jats:italic>ABCA12</jats:italic>\n                      SNPs were not associated with CT. The\n                      <jats:italic>ATP7B:c.4358G&gt;A</jats:italic>\n                      mutation was significantly associated with Bedlington CT and was more common in dogs of this breed than in the 144 dogs of other breeds.\n                    </jats:p>\n                  </jats:sec>","journal":"Veterinary Record","year":2023,"id":611659,"datarank":0.26876392038420827,"base_score":1.791759469228055,"endowment":1.791759469228055,"self_citation_contribution":0.26876392038420827,"citation_network_contribution":0.0,"self_endowment_contribution":0.26876392038420827,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":5,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1574372,"name":"June Swinburne","orcid":null,"position":1,"is_corresponding":false},{"id":763149,"name":"Ellen Schofield","orcid":"0000-0003-0648-1418","position":2,"is_corresponding":false},{"id":1574373,"name":"Fernando Constantino‐Casas","orcid":null,"position":3,"is_corresponding":false},{"id":1574374,"name":"Penny Watson","orcid":"0000-0002-7241-9412","position":4,"is_corresponding":false},{"id":1574371,"name":"Susan Haywood","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Copper toxicosis in Bedlington terriers is associated with multiple independent genetic variants","abstract":"<jats:title>Abstract</jats:title>\n                  <jats:sec>\n                    <jats:title>Background</jats:title>\n                    <jats:p>\n                      Bedlington terrier copper toxicosis (CT) is due to a homozygous exon deletion in\n                      <jats:italic>COMMD1</jats:italic>\n                      . CT also occurs in Bedlingtons lacking this deletion. An association with two\n                      <jats:italic>ABCA12</jats:italic>\n                      single nuceotide polymorphism (SNP) splice variants was reported. Labrador retriever CT is associated with a missense mutation in\n                      <jats:italic>ATP7B</jats:italic>\n                      , and with a protective mutation in\n                      <jats:italic>ATP7A</jats:italic>\n                      .\n                    </jats:p>\n                  </jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods</jats:title>\n                    <jats:p>\n                      Liver and DNA samples from 24 affected and 10 unaffected Bedlingtons were assessed for copper and genetic variants. Allelic frequencies were compared. The\n                      <jats:italic>ATP7B</jats:italic>\n                      mutation frequency was investigated in 144 dogs of other breeds.\n                    </jats:p>\n                  </jats:sec>\n                  <jats:sec>\n                    <jats:title>Results</jats:title>\n                    <jats:p>\n                      The\n                      <jats:italic>ABCA12</jats:italic>\n                      SNPs showed no differences between groups. The\n                      <jats:italic>COMMD1</jats:italic>\n                      deletion was less frequent in unaffected than in affected dogs and in affected dogs post‐2001 than pre‐2001. The\n                      <jats:italic>ATP7B</jats:italic>\n                      mutation was more frequent in affected than unaffected Bedlingtons. Thirty‐five of 144 dogs of other breeds were homo‐ or heterozygous for the\n                      <jats:italic>ATP7B</jats:italic>\n                      mutation. The\n                      <jats:italic>ATP7A</jats:italic>\n                      mutation was absent from Bedlingtons.\n                    </jats:p>\n                  </jats:sec>\n                  <jats:sec>\n                    <jats:title>Limitations</jats:title>\n                    <jats:p>Clinical information and qualitative copper measurements were unavailable for most dogs.</jats:p>\n                  </jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion</jats:title>\n                    <jats:p>\n                      The\n                      <jats:italic>COMMD1</jats:italic>\n                      deletion remains present in Bedlington terriers but is no longer the primary cause of CT.\n                      <jats:italic>ABCA12</jats:italic>\n                      SNPs were not associated with CT. The\n                      <jats:italic>ATP7B:c.4358G&gt;A</jats:italic>\n                      mutation was significantly associated with Bedlington CT and was more common in dogs of this breed than in the 144 dogs of other breeds.\n                    </jats:p>\n                  </jats:sec>","is_dataset_classified":null,"base_score":1.791759469228055,"endowment":1.791759469228055,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"37038639","pmcid":null,"openalex_id":"https://openalex.org/W4364353382","authors":[],"funders":[{"funder_name":"UK Bedlington Terrier Association","grant_id":"","title":null},{"funder_name":"UK Bedlington Terrier Association","grant_id":"","title":null}],"total_grants":2,"fwci":0.6519,"citation_percentile":0.63413718,"influential_citations":0,"citation_trend":[{"year":2023,"count":2},{"year":2025,"count":3}],"oa_status":"hybrid","license":"cc-by-nc","oa_locations":[{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/vetr.2832","host_type":"journal"},{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/vetr.2832","host_type":"publisher"},{"url":"https://bvajournals.onlinelibrary.wiley.com/doi/pdf/10.1002/vetr.2832","host_type":"publisher"},{"url":"https://doi.org/10.1002/vetr.2832","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/37038639","host_type":"repository"},{"url":"https://www.repository.cam.ac.uk/handle/1810/348512","host_type":"repository"},{"url":"https://doi.org/10.17863/cam.95942","host_type":"repository"}],"fields_of_study":["Trace Elements in Health","Drug Transport and Resistance Mechanisms","Dermatological and Skeletal Disorders","Dogs","Animals","Copper","Mutation","Liver","Polymorphism, Single Nucleotide","Dog Diseases"],"mesh_terms":["Animals","Copper","Dog Diseases","Dogs","Liver","Mutation","Polymorphism, Single Nucleotide"],"keywords":["Missense mutation","ATP7A","Mutation","Exon","Single-nucleotide polymorphism","Biology","Allele","Genetics","Breed","SNP","Genotype","Gene"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-01T21:31:34.153514Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}