{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T11:59:51Z","timestamp":1791115191875,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,10,27]],"date-time":"2013-10-27T00:00:00Z","timestamp":1382832000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2014,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Mammals are unable to synthesize cobalamin or vitamin <jats:styled-content style=\"fixed-case\">B<\/jats:styled-content><jats:sub>12<\/jats:sub> and rely on the uptake of dietary cobalamin. The cubam receptor expressed on the intestinal endothelium is required for the uptake of cobalamin from the gut. Cubam is composed of two protein subunits, amnionless and cubilin, which are encoded by the <jats:italic><jats:styled-content style=\"fixed-case\">AMN<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">CUBN<\/jats:styled-content><\/jats:italic> genes respectively. Loss\u2010of\u2010function mutations in either the <jats:italic><jats:styled-content style=\"fixed-case\">AMN<\/jats:styled-content><\/jats:italic> or the <jats:italic><jats:styled-content style=\"fixed-case\">CUBN<\/jats:styled-content><\/jats:italic> gene lead to hereditary selective cobalamin malabsorption or <jats:styled-content style=\"fixed-case\">I<\/jats:styled-content>merslund\u2013<jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>r\u00e4sbeck syndrome (<jats:styled-content style=\"fixed-case\">IGS<\/jats:styled-content>). We investigated <jats:styled-content style=\"fixed-case\">B<\/jats:styled-content>eagles with <jats:styled-content style=\"fixed-case\">IGS<\/jats:styled-content> and resequenced the whole genome of one affected <jats:styled-content style=\"fixed-case\">B<\/jats:styled-content>eagle at 15\u00d7 coverage. The analysis of the <jats:italic><jats:styled-content style=\"fixed-case\">AMN<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">CUBN<\/jats:styled-content><\/jats:italic> candidate genes revealed a homozygous deletion of a single cytosine in exon 8 of the <jats:italic><jats:styled-content style=\"fixed-case\">CUBN<\/jats:styled-content><\/jats:italic> gene (c.786delC). This deletion leads to a frameshift and early premature stop codon (p.<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>sp262<jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>lufs*47) and is, thus, predicted to represent a complete loss\u2010of\u2010function allele. We tested three <jats:styled-content style=\"fixed-case\">IGS<\/jats:styled-content>\u2010affected and 89 control <jats:styled-content style=\"fixed-case\">B<\/jats:styled-content>eagles and found perfect association between the <jats:styled-content style=\"fixed-case\">IGS<\/jats:styled-content> phenotype and the <jats:italic><jats:styled-content style=\"fixed-case\">CUBN<\/jats:styled-content>:c.786del<jats:styled-content style=\"fixed-case\">C<\/jats:styled-content><\/jats:italic> variant. Given the known role of cubilin in cobalamin transport, which has been firmly established in humans and dogs, our data strongly suggest that the <jats:italic><jats:styled-content style=\"fixed-case\">CUBN<\/jats:styled-content>:c.786del<jats:styled-content style=\"fixed-case\">C<\/jats:styled-content><\/jats:italic> variant is causing <jats:styled-content style=\"fixed-case\">IGS<\/jats:styled-content> in the investigated <jats:styled-content style=\"fixed-case\">B<\/jats:styled-content>eagles.<\/jats:p>","DOI":"10.1111\/age.12094","type":"journal-article","created":{"date-parts":[[2013,10,28]],"date-time":"2013-10-28T00:56:45Z","timestamp":1382921805000},"page":"148-150","source":"Crossref","is-referenced-by-count":26,"title":["A frameshift mutation in the cubilin gene (<i><scp>CUBN<\/scp><\/i>) in <scp>B<\/scp>eagles with <scp>I<\/scp>merslund\u2013<scp>G<\/scp>r\u00e4sbeck syndrome (selective cobalamin malabsorption)"],"prefix":"10.1111","volume":"45","author":[{"given":"Michaela","family":"Dr\u00f6gem\u00fcller","sequence":"first","affiliation":[{"name":"Institute of Genetics Vetsuisse Faculty University of Bern 3001 Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vidhya","family":"Jagannathan","sequence":"additional","affiliation":[{"name":"Institute of Genetics Vetsuisse Faculty University of Bern 3001 Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Howard","sequence":"additional","affiliation":[{"name":"Department of Clinical Veterinary Medicine University of Bern 3001 Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00e9my","family":"Bruggmann","sequence":"additional","affiliation":[{"name":"Interfaculty Bioinformatics Unit University of Bern 3001 Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cord","family":"Dr\u00f6gem\u00fcller","sequence":"additional","affiliation":[{"name":"Institute of Genetics Vetsuisse Faculty University of Bern 3001 Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Ruetten","sequence":"additional","affiliation":[{"name":"Institute of Veterinary Pathology Vetsuisse Faculty University of Zurich 8057 Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tosso","family":"Leeb","sequence":"additional","affiliation":[{"name":"Institute of Genetics Vetsuisse Faculty University of Bern 3001 Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter H.","family":"Kook","sequence":"additional","affiliation":[{"name":"Clinic for Small Animal Internal Medicine Vetsuisse Faculty University of Zurich 8057 Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,10,27]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/6831"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature08874"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1748-5827.2005.tb00330.x"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tvjl.2011.05.008"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1748-5827.2000.tb03233.x"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199101000-00006"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-08-2852"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.05.006"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-17"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-03-1197"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.5326\/JAAHA-MS-5867"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.5326\/15473317-35-5-392"},{"key":"e_1_2_3_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrgastro.2012.76"},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0061144"},{"key":"e_1_2_3_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1098"}],"container-title":["Animal Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fage.12094","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/age.12094","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T13:23:17Z","timestamp":1696339397000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/age.12094"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10,27]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,2]]}},"alternative-id":["10.1111\/age.12094"],"URL":"https:\/\/doi.org\/10.1111\/age.12094","archive":["Portico"],"relation":{},"ISSN":["0268-9146","1365-2052"],"issn-type":[{"value":"0268-9146","type":"print"},{"value":"1365-2052","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,10,27]]}}}