The detail information of Wilson disease, COMMD1 type
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 2005

Species-specific name: copper toxicosis

Species-specific symbol: -

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB27 Bedlington Terrier 40.6-44.5 cm (male), 38.1-41.9 cm (female) 7.7-10.4 kg United Kingdom
Associated Gene
Symbol Description Species Position Other Links
COMMD1 copper metabolism (Murr1) domain containing 1 Canis lupus familiaris Chr10 : 62894268 - 63067243 Homologene, Ensembl, NCBI gene
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2021 Corbee,R.J.,Penning,L.C.: :
COMMD1 Exemplifies the Power of Inbred Dogs to Dissect Genetic Causes of Rare Copper-Related Disorders. Animals (Basel) 11:, 2021.
Pubmed reference: 33668783 . DOI: 10.3390/ani11030601 .
2020 Kruitwagen,H.S.,Oosterhoff,L.A.,vanWolferen,M.E.,Chen,C.,NantasantiAssawarachan,S.,Schneeberger,K.,Kummeling,A.,vanStraten,G.,Akkerdaas,I.C.,Vinke,C.R.,vanSteenbeek,F.G.,vanBruggen,L.W.L.,Wolfswinkel,J.,Grinwis,G.C.M.,Fuchs,S.A.,Gehart,H.,Geijsen,N.,Vries,R.G.,Clevers,H.,Rothuizen,J.,Schotanus,B.A.,Penning,L.C.,Spee,B.: :
Long-Term Survival of Transplanted Autologous Canine Liver Organoids in a <i>COMMD1</i>-Deficient Dog Model of Metabolic Liver Disease. Cells 9:, 2020.
Pubmed reference: 32053895 . DOI: 10.3390/cells9020410 .
2020 Wu,X.,Mandigers,P.J.J.,Fieten,H.,Leegwater,P.A.: :
Evaluation of COMMD1 in copper toxicosis in Labrador retrievers and Dobermans. Vet J 265:105561, 2020.
Pubmed reference: 33129558 . DOI: 10.1016/j.tvjl.2020.105561 .
2019 Kruitwagen,H.S.,Fieten,H.,Penning,L.C.: :
Towards Bioengineered Liver Stem Cell Transplantation Studies in a Preclinical Dog Model for Inherited Copper Toxicosis. Bioengineering (Basel) 6:, 2019.
Pubmed reference: 31557851 . DOI: 10.3390/bioengineering6040088 .
2019 Wang,X.,Garrick,M.D.,Collins,J.F.: :
Animal Models of Normal and Disturbed Iron and Copper Metabolism. J Nutr 149:2085-2100, 2019.
Pubmed reference: 31504675 . DOI: 10.1093/jn/nxz172 .
2012 Favier,R.P.,Spee,B.,Schotanus,B.A.,vandenIngh,T.S.,Fieten,H.,Brinkhof,B.,Viebahn,C.S.,Penning,L.C.,Rothuizen,J.: :
COMMD1-Deficient Dogs Accumulate Copper in Hepatocytes and Provide a Good Model for Chronic Hepatitis and Fibrosis. PLoS One 7:e42158, 2012.
Pubmed reference: 22879914 . DOI: 10.1371/journal.pone.0042158 .
2011 Favier,R.P.,Spee,B.,Penning,L.C.,Rothuizen,J.: :
Copper-induced hepatitis: the COMMD1 deficient dog as a translational animal model for human chronic hepatitis. Vet Q 31:49-60, 2011.
Pubmed reference: 22029820 . DOI: 10.1080/01652176.2011.563146 .
2008 Coronado,V.A.,O'Neill,B.,Nanji,M.,Cox,D.W.: :
Polymorphisms in canine ATP7B: candidate modifier of copper toxicosis in the Bedlington terrier. Vet J 177:293-6, 2008.
Pubmed reference: 17572118 . DOI: 10.1016/j.tvjl.2007.04.012 .
2007 Lee,S.A.,Fillipich,L.J.,Hyun,C.: :
Prevalence of the exon 2 deletion of the COMMD1 gene in Australian Bedlington terriers. J Genet 86:289-91, 2007.
Pubmed reference: 18305350 .
2007 Spee,B.,Arends,B.,vanWees,A.M.,Bode,P.,Penning,L.C.,Rothuizen,J.: :
Functional consequences of RNA interference targeting COMMD1 in a canine hepatic cell line in relation to copper toxicosis. Anim Genet 38:168-70, 2007.
Pubmed reference: 17355395 . DOI: 10.1111/j.1365-2052.2007.01580.x .
2006 Haywood,S.: :
Copper toxicosis in Bedlington terriers. Vet Rec 159:687, 2006.
Pubmed reference: 17099181 .
2006 Lovicu,M.,Dessì,V.,Lepori,M.B.,Zappu,A.,Zancan,L.,Giacchino,R.,Marazzi,M.G.,Iorio,R.,Vegnente,A.,Vajro,P.,Maggiore,G.,Marcellini,M.,Barbera,C.,Kostic,V.,Farci,A.M.,Solinas,A.,Altuntas,B.,Yuce,A.,Kocak,N.,Tsezou,A.,DeVirgiliis,S.,Cao,A.,Loudianos,G.: :
The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease. J Gastroenterol 41:582-7, 2006.
Pubmed reference: 16868807 . DOI: 10.1007/s00535-006-1807-0 .
2006 Wu,Z.Y.,Zhao,G.X.,Chen,W.J.,Wang,N.,Wan,B.,Lin,M.T.,Murong,S.X.,Yu,L.: :
Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease. J Mol Med (Berl) 84:438-42, 2006.
Pubmed reference: 16649058 . DOI: 10.1007/s00109-005-0036-y .
2005 Forman,OP.,Boursnell,ME.,Dunmore,BJ.,Stendall,N.,vandenSluis,B.,Fretwell,N.,Jones,C.,Wijmenga,C.,Rothuizen,J.,vanOost,BA.,Holmes,NG.,Binns,MM.,Jones,P.: :
Characterization of the COMMD1 (MURR1) mutation causing copper toxicosis in Bedlington terriers. Anim Genet 36:497-501, 2005.
Pubmed reference: 16293123 . DOI: 10.1111/j.1365-2052.2005.01360.x .
2004 Hyun,C.,Filippich,LJ.: :
Inherited canine copper toxicosis in Australian Bedlington Terriers. J Vet Sci 5:19-28, 2004.
Pubmed reference: 15028882 .
2004 Hyun,C.,Lavulo,LT.,Filippich,LJ.: :
Evaluation of haplotypes associated with copper toxicosis in Bedlington Terriers in Australia. Am J Vet Res 65:1573-9, 2004.
Pubmed reference: 15566097 .
2004 Stuehler,B.,Reichert,J.,Stremmel,W.,Schaefer,M.: :
Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients. J Mol Med 82:629-34, 2004.
Pubmed reference: 15205742 . DOI: 10.1007/s00109-004-0557-9 .
2003 Coronado,VA.,Damaraju,D.,Kohijoki,R.,Cox,DW.: :
New haplotypes in the Bedlington terrier indicate complexity in copper toxicosis. Mamm Genome 14:483-91, 2003.
Pubmed reference: 12925897 . DOI: 10.1007/s00335-002-2255-3 .
2003 Klomp,AE.,vandeSluis,B.,Klomp,LW.,Wijmenga,C.: :
The ubiquitously expressed MURR1 protein is absent in canine copper toxicosis. J Hepatol 39:703-9, 2003.
Pubmed reference: 14568250 .
2003 Muller,T.,vandeSluis,B.,Zhernakova,A.,vanBinsbergen,E.,Janecke,A.R.,Bavdekar,A.,Pandit,A.,Weirich-Schwaiger,H.,Witt,H.,Ellemunter,H.,Deutsch,J.,Denk,H.,Muller,W.,Sternlieb,I.,Tanner,M.S.,Wijmenga,C.: :
The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis Journal of Hepatology 38:164-8, 2003.
Pubmed reference: 12547404 .
2003 Proschowsky,HF.,Olsen,JB.,Jepsen,B.,Fredholm,M.: :
Evaluation of the present breeding programme against copper toxicosis in Danish Bedlington terriers. Anim Genet 34:142-5, 2003.
Pubmed reference: 12648098 .
2003 vandeSluis,B.,Peter,AT.,Wijmenga,C.: :
Indirect molecular diagnosis of copper toxicosis in Bedlington terriers is complicated by haplotype diversity. J Hered 94:256-9, 2003.
Pubmed reference: 12816967 .
2002 Hyun,C.,Filippich,L.J.: :
Inherited copper toxicosis in a Bedlington Terrier - a case report Australian Veterinary Practitioner 32:152-159, 2002.
2002 Kawamura,M.,Takahashi,I.,Kaneko,J.J.: :
Ultrastructural and kinetic studies of copper metabolism in Bedlington Terrier dogs Veterinary Pathology 39:747-750, 2002.
Pubmed reference: 12450209 .
2002 vandeSluis,B.,Rothuizen,J.,Pearson,P.L.,vanOost,B.A.,Wijmenga,C.: :
Identification of a new copper metabolism gene by positional cloning in a purebred dog population Human Molecular Genetics 11:165-173, 2002.
Pubmed reference: 11809725 .
2001 Seguin,M.A.,Bunch,S.E.: :
Iatrogenic copper deficiency associated with long-term copper chelation for treatment of copper storage disease in a Bedlington Terrier Journal of the American Veterinary Medical Association 218:1593-+, 2001.
Pubmed reference: 11393371 .
2000 Haywood,S.,Fuentealba,I.C.,Kemp,S.J.: :
Copper toxicosis in Bedlington terriers Veterinary Record 146:383-384, 2000.
Pubmed reference: 10803990 .
2000 Holmes,N.G.,Binns,M.M.,Herrtage,M.E.: :
DNA testing for copper toxicosis in Bedlington terriers Veterinary Record 146:739, 2000.
Pubmed reference: 10901220 .
2000 Proschowsky,H.F.,Jepsen,B.,Jensen,H.E.,Jensen,A.L.,Fredholm,M.: :
Microsatellite marker C04107 as a diagnostic marker for copper toxicosis in the Danish population of Bedlington terriers Acta Veterinaria Scandinavica 41:345-350, 2000.
Pubmed reference: 11234968 .
2000 Ubbink,G.J.,Van,den,Ingh,T.S.G.A.M.,Yuzbasiyan-Gurkan,V.,Teske,E.,Van,de,Broek,J.,Rothuizen,J.: :
Population dynamics of inherited copper toxicosis in Dutch Bedlington terriers (1977-1997) Journal of Veterinary Internal Medicine 14:172-176, 2000.
Pubmed reference: 10772489 .
2000 vandeSluis,B.,Kole,S.,vanWolferen,M.,Holmes,N.G.,Pearson,P.L.,Rothuizen,J.,van,Oost,B.A.,Wijmenga,C.: :
Refined genetic and comparative physical mapping of the canine copper toxicosis locus Mammalian Genome 11:455-460, 2000.
Pubmed reference: 10818210 .
1999 Dagenais,S.L.,Guevara-Fujita,M.,Loechel,R.,Burgess,A.C.,Miller,D.E.,Yuzbasiyan-Gurkan,V.,Brewer,G.J.,Glover,T.W.: :
The canine copper toxicosis locus is not syntenic with ATP7B or ATX1 and maps to a region showing homology to human 2p21 Mammalian Genome 10:753-756, 1999.
Pubmed reference: 10384054 .
1999 Nanji,M.S.,Cox,D.W.: :
The copper chaperone Atox1 in canine copper toxicosis in Bedlington terriers Genomics 62:108-112, 1999.
Pubmed reference: 10585777 . DOI: 10.1006/geno.1999.5983 .
1999 Rothuizen,J.,Ubbink,G.J.,van,Zon,P.,Teske,E.,van,den,Ingh,T.S.G.A.M.,Yuzbasiyan-Gurkan,V.: :
Diagnostic value of a microsatellite DNA marker for copper toxicosis in West-European Bedlington terriers and incidence of the disease Animal Genetics 30:190-194, 1999.
Pubmed reference: 10442980 .
1999 vandeSluis,B.J.A.,Breen,M.,Nanji,M.,vanWolferen,M.,deJong,P.,Binns,M.M.,Pearson,P.L.,Kuipers,J.,Rothuizen,J.,Cox,D.W.,Wijmenga,C.,vanOost,B.A.: :
Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16 Human Molecular Genetics 8:501-507, 1999.
Pubmed reference: 9949209 .
1998 Holmes,N.G.,Herrtage,M.E.,Ryder,E.J.,Binns,M.M.: :
DNA marker C04107 for copper toxicosis in a population of Bedlington Terriers in the United Kingdom Veterinary Record 142:351-352, 1998.
Pubmed reference: 9587195 .
1997 Yuzbasiyan-Gurkan,V.,Blanton,S.H.,Cao,Y.Y.,Ferguson,P.,Li,J.P.,Venta,P.J.,Brewer,G.J.: :
Linkage of a microsatellite marker to the canine copper toxicosis locus in Bedlington terriers American Journal of Veterinary Research 58:23-27, 1997.
Pubmed reference: 8989491 .
1996 Rothuizen,J.,Vanwolferen,M.,Yuzbasiangurkan,V.: :
Evaluation of a DNA marker for copper toxicosis in Bedlington Terriers Veterinary Quarterly 18:S 54, 1996.
1993 Yuzbasiyangurkan,V.,Wagnitz,S.,Blanton,S.H.,Brewer,G.J.: :
Linkage Studies of the Esterase-D and Retinoblastoma Genes to Canine Copper Toxicosis - A Model for Wilson Disease Genomics 15:86-90, 1993.
Pubmed reference: 8432554 . DOI: 10.1006/geno.1993.1013 .
1992 Teske,E.,Brinkhuis,B.G.A.M.,Bode,P.,Vandeningh,T.S.G.A.M.,Rothuizen,J.: :
Cytological Detection of Copper for the Diagnosis of Inherited Copper Toxicosis in Bedlington Terriers Veterinary Record 131:30-32, 1992.
Pubmed reference: 1380748 .
1991 Kolb,E.,Nestler,K.,Piechotta,D.: :
Studies of Copper Metabolism in Dogs - The Development, Treatment and Prevention of Copper Storage Disease in Bedlington and Other Terriers Tierarztliche Umschau 46:93-97, 1991.
1988 Twedt,D.C.,Hunsaker,H.A.,Allen,K.G.: :
Use of 2,3,2-tetramine as a hepatic copper chelating agent for treatment of copper hepatotoxicosis in Bedlington terriers. J Am Vet Med Assoc 192:52-6, 1988.
Pubmed reference: 3343179 .
1987 Herrtage,M.E.,Seymour,C.A.,White,R.A.S.,Small,G.M.,Wight,D.G.D.: :
Inherited copper toxicosis in the Bedlington terrier: a report of two clinical cases Journal of Small Animal Practice 28:1127-1140, 1987.
1987 Herrtage,M.E.,Seymour,C.A.,White,R.A.S.,Small,G.M.,Wight,D.G.D.: :
Inherited copper toxicosis in the Bedlington terrier: the prevelance in asymptomatic dogs Journal of Small Animal Practice 28:1141-1151, 1987.
1984 Johnson,G.F.,Gilbertson,S.R.,Goldfisher,S.,Grushoff,P.S.,Sternlieb,I.: :
Cytochemical detection of copper toxicosis of Bedlington terriers Veterinary Pathology 21:57-60, 1984.
Pubmed reference: 6710813 .
1983 Eriksson,J.: :
Copper toxicosis in Bedlington terriers Acta Veterinaaria Scandinavica 24:148-152, 1983.
1983 Owen,C.A.,McCall,J.T.: :
Identification of the carrier of the Bedlington Terrier copper disease. Am J Vet Res 44:694-6, 1983.
Pubmed reference: 6869968 .
1983 Robertson,H.M.,Studdert,V.P.,Reuter,R.E.: :
Inherited copper toxicosis in Bedlington terriers Australian Veterinary Journal 60:235-238, 1983.
Pubmed reference: 6639527 .
1982 Owen,C.A.,Ludwig,J.: :
Inherited copper toxicosis in Bedlington terriers American Journal of Pathology 106:432-434, 1982.
Pubmed reference: 7065120 .
1982 Su,L.C.,Ravenshad,S.,Owen,C.A.,McCall,J.T.,Zollman,P.E.,Hardy,R.M.: :
A comparison of copper-loading disease in Bedlington Terriers and Wilson's disease in humans American Journal of Physiology 243:G226-G230, 1982.
Pubmed reference: 7114265 .
1981 Sternlieb,I.: :
Copper toxicosis of the Bedlington terrier. J Rheumatol Suppl 7:94-5, 1981.
Pubmed reference: 6939891 .
1980 Johnson,G.F.,Sternlieb,I.,Twedt,D.C.,Grushoff,P.S.,Scheinberg,I.H.: :
Inheritance of copper toxicosis in Bedlington Terriers American Journal of Veterinary Research 41:1865-1866, 1980.
Pubmed reference: 7212417 .
1977 Hardy,R.M.: :
Chronic hepatitis in Bedlington Terriers - An emerging animal model D.V.M. 8:20 only, 1977.
1975 Hardy,R.M.,Stevens,J.B.,Stowe,C.M.: :
Chronic progressive hepatitis in Bedlington Terriers associated with elevated liver copper concentrations Minnesota Veterinarian 15:13-24, 1975.