OMIA 000876-9031 : Riboflavinuria in Gallus gallus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|RBP||riboflavin binding protein||Gallus gallus||8||NC_052539.1 (20948885..20930694)||RBP||Homologene, Ensembl, NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|Riboflavinuria||RBP||splicing||Naturally occurring variant||8||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|
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. I. Effect of genotype on renal riboflavin metabolism. Comp Biochem Physiol 22:889-96, 1967. Pubmed reference: 4293925.|
|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.|
|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.|
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 31 Aug 2012