OMIA 000876-9031 : Riboflavinuria in Gallus gallus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1993

Molecular basis: By cloning and sequencing a very likely candidate gene (based on knowledge that the disorder is due to deficiency of riboflavin-binding protein; ribBP), MacLachlan et al. (1993) identified a "deletion in the rd ribBP cDNA correspond[ing] precisely to an exon. The splice site following this exon contains a G-->A mutation at position 1 of the downstream 5'-splice donor sequence. The effect of this anomaly and the cause of the rd phenotype is the loss of the 100-base pair exon during the splicing process."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
RBP riboflavin binding protein Gallus gallus 8 NC_006095.5 (21608988..21595378) RBP Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Riboflavinuria RBP splicing A "deletion in the rd ribBP cDNA correspond[ing] precisely to an exon. The splice site following this exon contains a G-->A mutation at position 1 of the downstream 5'-splice donor sequence. 1993 8226844

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.
1996 Lee, C.M., White, H.B. :
Riboflavin-binding protein induces early death of chicken embryos Journal of Nutrition 126:523-528, 1996. Pubmed reference: 8632227.
1995 Abrams, V.A.M., Han, C.C., White, H.B. :
Riboflavin-deficient chicken embryos: Hypoglycemia without dicarboxylic aciduria Comparative Biochemistry and Physiology B - Biochemistry & Molecular Biology 111:233-241, 1995.
1993 Maclachlan, I., Nimpf, J., White, H.B., Schneider, W.J. :
Riboflavinuria in the rd Chicken - 5'-Splice Site Mutation in the Gene for Riboflavin-Binding Protein Journal of Biological Chemistry 268:23222-23226, 1993. Pubmed reference: 8226844.
1980 Ramanathan, L., Guyer, R.B., Buss, E.G., Clagett, C.O., Listwak, S. :
Avian riboflavinuria--XI. Immunological quantitation of cross-reacting liver proteins from normal, heterozygous, and mutant hens. Biochem Genet 18:1131-48, 1980. Pubmed reference: 6166296.
1976 Hammer, C.H., Buss, E.G., Clagett, C.O. :
Avian riboflavinuria IX. Qualitative action of a mutant gene in chicken on riboflavin-binding protein synthesis. Genetics 82:467-76, 1976. Pubmed reference: 817961.
1969 Farrell, H.M., Mallette, M.F., Bus, E.G., Clagett, C.O. :
The nature of the biochemical lesion in avian renal riboflavinuria. III. The isolation and characterization of the riboflavin binding protein from egg albumen Biochimica et Biophysica Acta 194:433-442, 1969. Pubmed reference: 5366910.
1967 Winter, W.P., Buss, E.G., Clagett, C.O., Boucher, R.V. :
The nature of the biochemical lesion in avian renal riboflavinuria. II. The inherited change of a riboflavin-binding protein from blood and eggs. Comp Biochem Physiol 22:897-906, 1967. Pubmed reference: 6053648.
Winter, W.P., Buss, E.G., Clagett, C.O., Boucher, R.V. :
The nature of the biochemical lesion in avian renal riboflavinuria. I. Effect of genotype on renal riboflavin metabolism. Comp Biochem Physiol 22:889-96, 1967. Pubmed reference: 4293925.
1964 Cowan, J.W., Boucher, R.V., Buss, E.G. :
Riboflavin utilization by a mutant strain of Single Comb White Leghorn chickens. II. Absorption of radioactive riboflavin from the digestive tract Poultry Science 43:172-174, 1964.
1962 Cowan, J.W. :
The discovery of renal riboflavinuria in a mutant strain of White Leghorn chickens Dissertation Abstracts 22:2128, 1962.

Edit History


  • Created by Frank Nicholas on 12 Sep 2005
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 31 Aug 2012