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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

COMMD1  -  copper metabolism (Murr1) domain containing 1

Canis lupus familiaris

 
 
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Disease relevance of COMMD1

  • This MURR1 gene is not only involved with biliary copper excretion but also associated with HIV-1 replication [1].
 

High impact information on COMMD1

  • The microsatellite C04107 lying in an intron of the MURR1 gene is highly associated with the disease but shows haplotype diversity [1].
  • Here we show that the MURR1 exon-2/exon-3 ratio measured by Q-PCR on genomic DNA correlates perfectly with the microsatellite marker and with RT-PCR data from blood samples, buccal swabs, and liver biopsies [1].
  • The only solid molecular test for the disease is by showing the deletion in exon-2 in cDNA in liver tissue; this test is not robust on RNA from peripheral leukocytes because of their low MURR1 expression level [1].
 

Analytical, diagnostic and therapeutic context of COMMD1

  • Quantitative PCR method to detect a 13-kb deletion in the MURR1 gene associated with copper toxicosis and HIV-1 replication [1].
  • Isolation of the MURR1 gene will be of great value in developing a reliable diagnostic test for the breeding of a copper toxicosis-free stock [2].

References

  1. Quantitative PCR method to detect a 13-kb deletion in the MURR1 gene associated with copper toxicosis and HIV-1 replication. Favier, R.P., Spee, B., Penning, L.C., Brinkhof, B., Rothuizen, J. Mamm. Genome (2005) [Pubmed]
  2. Indirect molecular diagnosis of copper toxicosis in Bedlington terriers is complicated by haplotype diversity. van de Sluis, B., Peter, A.T., Wijmenga, C. J. Hered. (2003) [Pubmed]
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