OMIA 000876-9031 : Riboflavin-binding protein deficiency in Gallus gallus
Category: Homeostasis / metabolism phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 1993
Cross-species summary: This phene was renamed from 'riboflavinuria' to 'riboflavin-binding protein deficiency' [21/10/2022]
Species-specific name: Riboflavinuria
Species-specific symbol: rd
Species-specific description: Cowan (1962) reported a strain of Single Comb White Leghorn chickens with abnormal riboflavin metabolism. MacLachlan et al. (1993): "The allele describing this condition is the rd allele. Fertilized eggs from hens homozygous for the rd allele are unable to develop into viable embryos. These eggs lack the riboflavin required for normal embryonic development, and as a result the embryo expires on or around the 13th day of incubation. Early investigations found higher than expected levels of riboflavin excreted in the urine of sexually mature homozygous rd females (Cowan et al. 1966, 1966). This observation led to the hypothesis that the rd defect was related to renal riboflavin reabsorption, and to the subsequent adoption of the term avian riboflavinuria to describe the condition. However, a later study of isolated kidney sections failed to demonstrate a difference in the renal riboflavin transport of affected (rd l rd ) versus normal ( Rd l Rd) females (Winter et al. 1967)." MacLachlan et al. (1993) identified a likely causal variant in the riboflavin-binding protein (ribBP, also abbreviated as RBP).
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."
Breed: Single Comb White Leghorn-Line 01, Ukraine (Chicken) (VBO_0005876).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|RBP||riboflavin binding protein||Gallus gallus||8||NC_052539.1 (20949055..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.
|OMIA Variant ID||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|
|913||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.|
|1966||Cowan, J.W., Boucher, R.V., Buss, E.G. :>|
|Riboflavin Utilization by a Mutant Strain of Single Comb White Leghorn Chickens: 3. Riboflavin Content of Tissues. Poultry Science 45:536-538, 1966.|
|Cowan, J.W.,, Boucher, R.V., Buss, E.G. :>|
|Riboflavin Utilization by a Mutant Strain of Single Comb White Leghorn Chickens: 4. Excretion and Reabsorption of Riboflavin by the Kidney. Poultry Science 45:538-541, 1966.|
|1964||Boucher, R.V., Cowan, J.W., Buss, E.G. :>|
|Riboflavin Utilization by a Mutant Strain of Single Comb White Leghorn Chickens: 1. Attempts to Increase Free Riboflavin in the Blood. Poultry Science 43:169-172, 1964.|
|Cowan, J.W., Boucher, R.V., Buss, E.G. :>|
|Riboflavin utilization by a mutant strain of Single Comb White Leghorn chickens. 2. 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
- Changed by Imke Tammen2 on 21 Oct 2022