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A frameshift mutation in the cubilin gene (CUBN) in Beagles with Imerslund-Grasbeck syndrome (selective cobalamin malabsorption)
被引:20
作者:

Droegemueller, Michaela
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Univ Bern, Vetsuisse Fac, Inst Genet, CH-3001 Bern, Switzerland Univ Bern, Vetsuisse Fac, Inst Genet, CH-3001 Bern, Switzerland

Jagannathan, Vidhya
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Univ Bern, Vetsuisse Fac, Inst Genet, CH-3001 Bern, Switzerland Univ Bern, Vetsuisse Fac, Inst Genet, CH-3001 Bern, Switzerland

Howard, Judith
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Univ Bern, Dept Clin Vet Med, CH-3001 Bern, Switzerland Univ Bern, Vetsuisse Fac, Inst Genet, CH-3001 Bern, Switzerland

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Droegemueller, Cord
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Univ Bern, Vetsuisse Fac, Inst Genet, CH-3001 Bern, Switzerland Univ Bern, Vetsuisse Fac, Inst Genet, CH-3001 Bern, Switzerland

Ruetten, Maja
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机构:
Univ Bern, Vetsuisse Fac, Inst Vet Pathol, CH-3001 Bern, Switzerland Univ Bern, Vetsuisse Fac, Inst Genet, CH-3001 Bern, Switzerland

Leeb, Tosso
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Univ Bern, Vetsuisse Fac, Inst Genet, CH-3001 Bern, Switzerland Univ Bern, Vetsuisse Fac, Inst Genet, CH-3001 Bern, Switzerland

Kook, Peter H.
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Univ Zurich, Vetsuisse Fac, Clin Small Anim Internal Med, CH-8057 Zurich, Switzerland Univ Bern, Vetsuisse Fac, Inst Genet, CH-3001 Bern, Switzerland
机构:
[1] Univ Bern, Vetsuisse Fac, Inst Genet, CH-3001 Bern, Switzerland
[2] Univ Bern, Dept Clin Vet Med, CH-3001 Bern, Switzerland
[3] Univ Bern, Interfac Bioinformat Unit, CH-3001 Bern, Switzerland
[4] Univ Bern, Vetsuisse Fac, Inst Vet Pathol, CH-3001 Bern, Switzerland
[5] Univ Zurich, Vetsuisse Fac, Clin Small Anim Internal Med, CH-8057 Zurich, Switzerland
关键词:
animal model;
candidate gene;
Canis familiaris;
Dog;
genetic testing;
vitamin B-12;
WGS;
whole-genome sequencing;
DEFICIENCY;
RECEPTOR;
AMNIONLESS;
ANEMIA;
D O I:
10.1111/age.12094
中图分类号:
S8 [畜牧、 动物医学、狩猎、蚕、蜂];
学科分类号:
0905 ;
摘要:
Mammals are unable to synthesize cobalamin or vitamin B-12 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 AMN and CUBN genes respectively. Loss-of-function mutations in either the AMN or the CUBN gene lead to hereditary selective cobalamin malabsorption or Imerslund-Grasbeck syndrome (IGS). We investigated Beagles with IGS and resequenced the whole genome of one affected Beagle at 15x coverage. The analysis of the AMN and CUBN candidate genes revealed a homozygous deletion of a single cytosine in exon 8 of the CUBN gene (c.786delC). This deletion leads to a frameshift and early premature stop codon (p.Asp262Glufs*47) and is, thus, predicted to represent a complete loss-of-function allele. We tested three IGS-affected and 89 control Beagles and found perfect association between the IGS phenotype and the CUBN:c.786delC 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 CUBN:c.786delC variant is causing IGS in the investigated Beagles.
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页码:148 / 150
页数:3
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