Prevalence of the exon 2 deletion of the COMMD1 gene in Australian Bedlington terriers

Lee, Shin-Aeh; Fillipich, Lucio J.; Hyun, Changbaig

doi:10.1007/s12041-007-0039-2

Cited by 7 publications

(7 citation statements)

References 12 publications

(10 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Two alleles were present in the Bedlington terrier population, and allele 2 cosegregated with BTCT. The frequency of the disease-associated allele was very high in the European, American, and Australian populations and varied from 0.31 to 0.5 (Holmes et al 1998; Lee et al 2007; Rothuizen et al 1999; Yuzbasiyan-Gurkan et al 1997). Whereas implementation of the microsatellite marker test in the breeding programs was an important step forward in decreasing the disease incidence within the Bedlington terrier populations, the search for the causal gene continued.…”

Section: Discovery Of the Copper Toxicosis Gene In The Bedlington Termentioning

confidence: 99%

“…In an American Bedlington terrier pedigree, it was confirmed that C04107 allele 1 was linked to the exon 2 deletion, implying that direct analysis for the exon 2 deletion would be the only reliable genetic test for copper toxicosis in the Bedlington (Favier et al 2005; Lee et al 2007; van de Sluis et al 2003). The presence of the new haplotype in the American Bedlington terriers raised the question whether this haplotype had a different genetic origin, or occurred due to a recombination event between the microsatellite marker and the exon 2 deletion (van de Sluis et al 2003).…”

Section: Discovery Of the Copper Toxicosis Gene In The Bedlington Termentioning

confidence: 99%

See 1 more Smart Citation

Canine models of copper toxicosis for understanding mammalian copper metabolism

Fieten

Leegwater

Watson³

et al. 2011

Mamm Genome

View full text Add to dashboard Cite

Hereditary forms of copper toxicosis exist in man and dogs. In man, Wilson’s disease is the best studied disorder of copper overload, resulting from mutations in the gene coding for the copper transporter ATP7B. Forms of copper toxicosis for which no causal gene is known yet are recognized as well, often in young children. Although advances have been made in unraveling the genetic background of disorders of copper metabolism in man, many questions regarding disease mechanisms and copper homeostasis remain unanswered. Genetic studies in the Bedlington terrier, a dog breed affected with copper toxicosis, identified COMMD1, a gene that was previously unknown to be involved in copper metabolism. Besides the Bedlington terrier, a number of other dog breeds suffer from hereditary copper toxicosis and show similar phenotypes to humans with copper storage disorders. Unlike the heterogeneity of most human populations, the genetic structure within a purebred dog population is homogeneous, which is advantageous for unraveling the molecular genetics of complex diseases. This article reviews the work that has been done on the Bedlington terrier, summarizes what was learned from studies into COMMD1 function, describes hereditary copper toxicosis phenotypes in other dog breeds, and discusses the opportunities for genome-wide association studies on copper toxicosis in the dog to contribute to the understanding of mammalian copper metabolism and copper metabolism disorders in man.

show abstract

Section: Discovery Of the Copper Toxicosis Gene In The Bedlington Termentioning

confidence: 99%

Section: Discovery Of the Copper Toxicosis Gene In The Bedlington Termentioning

confidence: 99%

Canine models of copper toxicosis for understanding mammalian copper metabolism

Fieten

Leegwater

Watson³

et al. 2011

Mamm Genome

View full text Add to dashboard Cite

show abstract

“…In particular, MT-3 is specifically expressed in brain and exhibits enzyme activity as a growth inhibitory factor of neurons 11 . The fourth group includes a novel Cu-regulating protein that was recently characterized, i.e ., the Cu metabolism gene Murr1 (mouse U2af1-rs1 region 1) domain (Commd1) 12 13 . However, little is known about the actual role of Commd1 14 15 .…”

mentioning

confidence: 99%

Changes in intracellular copper concentration and copper-regulating gene expression after PC12 differentiation into neurons

Ogra

Tejima

Hatakeyama

et al. 2016

Sci Rep

View full text Add to dashboard Cite

It is suspected that some neurodegenerative diseases are a result of the disturbance of copper (Cu) homeostasis, although it remains unclear whether the disturbance of Cu homeostasis has aberrant effects on neurons. Herein, we investigated Cu metabolism specifically in neurons in terms of changes in the intracellular Cu concentration and the expression of Cu-regulating genes, such as Cu transporters and metallothioneins (MTs), before and after the differentiation of rat pheochromocytoma cells (PC12 cells) into neurons. After the differentiation, Cu and Zn imaging with fluorescent probes revealed an increase in intracellular Cu concentration. The concentrations of other essential metals, which were determined by an inductively coupled plasma mass spectrometer, were not altered. The mRNA expression of the Cu influx transporter, Ctr1, was decreased after the differentiation, and the differentiated cells acquired tolerance to Cu and cisplatin, another substrate of Ctr1. In addition, the expression of MT-3, a brain-specific isoform, was increased, contrary to the decreased expression of MT-1 and MT-2. Taken together, the differentiation of PC12 cells into neurons induced MT-3 expression, thereby resulting in intracellular Cu accumulation. The decrease in Ctr1 expression was assumed to be a response aimed at abolishing the physiological accumulation of Cu after the differentiation.

show abstract

“…39) The dysfunction of Commd1 causes Cu toxicosis that results from abnormal Cu accumulation in the liver of Bedlington terriers. [40][41][42][43][44][45] Whether Commd1 is directly or indirectly involved in Cu homeostasis is still a controversy.…”

Section: Introductionmentioning

confidence: 99%

Research Tools and Techniques for Copper Metabolism in Mammals

Ogra

2011

JOURNAL OF HEALTH SCIENCE

View full text Add to dashboard Cite

Copper (Cu) is an essential component of biological redox reactions and its deficiency is fatal to the body. At the same time, Cu is extremely toxic when present in excess. In this regard, several groups of Cu-regulating proteins in the body act to regulate the concentration of Cu within a certain range. However, the overall mechanism underlying the maintenance of Cu homeostasis in the body and cells remains poorly understood. In this review, recent research tools, such as animal models and gene-modified animals, and techniques, such as speciation and imaging of Cu, are highlighted.

show abstract

Prevalence of the exon 2 deletion of the COMMD1 gene in Australian Bedlington terriers

Cited by 7 publications

References 12 publications

Canine models of copper toxicosis for understanding mammalian copper metabolism

Canine models of copper toxicosis for understanding mammalian copper metabolism

Changes in intracellular copper concentration and copper-regulating gene expression after PC12 differentiation into neurons

Research Tools and Techniques for Copper Metabolism in Mammals

Contact Info

Product

Resources

About