OMIA 001407-9913 : Lipofuscinosis, renal in Bos taurus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

Species-specific name: Black kidney

Species-specific symbol: RL

Species-specific description: "Affected animals are identified at slaughter by their discolored kidneys, justifying the more common designation of ‘black kidney disease’. RL is not accompanied by gross renal dysfunction, yet it may cause more insidious deleterious effects, as evidenced by a reduced longevity of affected animals." (Charlier et al., 2008)

Mapping: In a pioneering use of tens of thousands of SNP markers ("using either the 25K Affymetrix SNP panel or a custom-made 60K Illumina panel"), Charlier et al. (2008) identified a single 0.87 Mb region on BTA17 in which 6 affected calves were significantly more homozygous for the same allele at each of many SNPs, when compared with 24 normal controls. An investigation of candidate genes in this region is currently being undertaken.

Pathology: "RL is characterized by the accumulation of lipofuscine granules in secondary lysosomes of renal proximal tubular epithelial cells, as well as in macrophages and in the reticular and endothelial cells of kidney-associated lymph nodes." (Charlier et al., 2008)

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.
2009 Agerholm, J.S., Christensen, K., Nielsen, S.S., Flagstad, P. :
Bovine renal lipofuscinosis: prevalence, genetics and impact on milk production and weight at slaughter in Danish cattle. Acta Vet Scand 51:7, 2009. Pubmed reference: 19216753. DOI: 10.1186/1751-0147-51-7.
2008 Charlier, C., Coppieters, W., Rollin, F., Desmecht, D., Agerholm, JS., Cambisano, N., Carta, E., Dardano, S., Dive, M., Fasquelle, C., Frennet, JC., Hanset, R., Hubin, X., Jorgensen, C., Karim, L., Kent, M., Harvey, K., Pearce, BR., Simon, P., Tama, N., Nie, H., Vandeputte, S., Lien, S., Longeri, M., Fredholm, M., Harvey, RJ., Georges, M. :
Highly effective SNP-based association mapping and management of recessive defects in livestock. Nat Genet 40:449-54, 2008. Pubmed reference: 18344998. DOI: 10.1038/ng.96.
2007 Agerholm, JS. :
Inherited disorders in Danish cattle. APMIS Supplement s122 :1-76, 2007. Pubmed reference: 17935556. DOI: 10.1111/j.1600-0463.2007.apm_v115_s122.x.
2005 Rude, H., Agerholm, JS., Maddox-Hyttel, P., Christensen, K., Flagstad, P. :
Renal lipofuscinosis in Danish slaughter cattle. J Comp Pathol 132:303-12, 2005. Pubmed reference: 15893988. DOI: 10.1016/j.jcpa.2004.11.005.

Edit History


  • Created by Frank Nicholas on 30 Mar 2008
  • Changed by Frank Nicholas on 21 May 2013