OMIA:000836-9913 : Protoporphyria in Bos taurus (taurine cattle) |
In other species: chicken
Categories: Integument (skin) phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 177000 (trait) , 612386 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Disease-related: yes
Key variant known: yes
Year key variant first reported: 1998
Cross-species summary: Protoporphyrin is the last intermediate in the seven-step biosynthesis of haem from aminolaevulinic acid (ALA). The conversion of protoporphyrin to haem is catalised by the enzyme ferrochelatase. Protoporphyria is a disorder resulting from the buildup of protoporphyrin (and the other five, earlier intermediates [porphyrins] in this pathway: see the entry for porphyria, unclassified), due to the lack of this enzyme. Protoporphyrin is extremely photoreactive. Because of this, photosensitivity is the main clinical sign of this disorder.
Species-specific name: bovine erythropoietic protoporphyria
Species-specific symbol: BCEPP
Molecular basis: The report of the use of a DNA genotyping test by Healy et al. (1995), citing a personal communication from G.S. Johnson at the University of Missouri, implied that the molecular basis of this disorder within the gene for ferrochelatase had been determined by Dr Johnson. Jenkins et al. (1998) appear to have been the first to publicly report the molecular basis of this disorder. They did so by cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), and reported a base substitution in the stop codon of the bovine ferrochelatase gene, that destroys that codon, resulting in an additional 27 amino acids in the peptide. To FN's knowledge, this is the first reported case in non-laboratory animals of the obliteration of a stop codon by a base substitution: a stop-loss or extension mutation.
Genetic testing: Citing a personal communication from G.S. Johnson at the University of Missouri, Healy et al. (1995) report using a DNA test on hair roots to genotype cattle for this disorder.
Breeds:
Blonde d'Aquitaine (Cattle) (VBO_0000151),
Limousin (Cattle) (VBO_0000274).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| FECH | ferrochelatase | Bos taurus | 24 | NC_037351.1 (56822085..56787248) | FECH | Homologene, Ensembl , NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 910 | Blonde d'Aquitaine (Cattle) Limousin (Cattle) | Protoporphyria | FECH | extension (stop-lost) | Naturally occurring variant | ARS-UCD1.3 | 24 | NC_037351.1:g.56787697C>A | NM_174054.2:c.1250G>T | NP_776479.1:p.(*417Lext*27) | rs5334474668 | 1998 | 9784594 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170) |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000836-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2024 | Capuzzello, G., Kaczmarska, A., Gutierrez-Quintana, R., Jonsson, N., Viora, L. : |
| A case of bovine erythropoietic protorphyria in a female Limousin calf. Large Animal Review (LAR) 30:223-226, 2024. URL: https://www.largeanimalreview.com/index.php/lar/article/view/830/291. | |
| 2021 | Caivio-Nasner, S., López-Herrera, A., González-Herrera, L.G., Rincón, J.C. : |
| Frequency of genotypic markers for genetic disorders, colour, polledness, and major genes in Blanco Orejinegro cattle. Trop Anim Health Prod 53:546, 2021. Pubmed reference: 34779908. DOI: 10.1007/s11250-021-02990-y. | |
| 2015 | Anon. : |
| Erythropoietic protoporphyria in Limousin calves. Vet Rec 177:432-5, 2015. Pubmed reference: 26515350. DOI: 10.1136/vr.h5598. | |
| McAloon, C.G., Doherty, M.L., O'Neill, H., Badminton, M., Ryan, E.G. : | |
| Bovine congenital erythropoietic protoporphyria in a crossbred limousin heifer in Ireland. Ir Vet J 68:15, 2015. Pubmed reference: 26140209. DOI: 10.1186/s13620-015-0044-3. | |
| 2002 | Armstrong, S.C., Jonsson, N.N., Barrett, D.C. : |
| Bovine congenital erythrocytic protoporphyria in a Limousin calf bred in the UK Veterinary Record 150:608-610, 2002. Pubmed reference: 12036245. | |
| Pence, ME., Liggett, AD. : | |
| Congenital erythropoietic protoporphyria in a Limousin calf. J Am Vet Med Assoc 221:277-9, 240, 2002. Pubmed reference: 12118595. | |
| 1998 | Jenkins, M.M., LeBoeuf, R.D., Ruth, G.R., Bloomer, J.R. : |
| A novel stop codon mutation (X417L) of the ferrochelatase gene in bovine protoporphyria, a natural animal model of the human disease. Biochim Biophys Acta 1408:18-24, 1998. Pubmed reference: 9784594. DOI: 10.1016/s0925-4439(98)00052-0. | |
| 1995 | Buchanan, M., Crawshaw, W.M. : |
| Bovine congenital erythropoietic protoporphyria in a pedigree Limousin heifer Veterinary Record 136:640, 1995. Pubmed reference: 7571274. | |
| Healy, P.J., Dennis, J.A., Moule, J.F. : | |
| Use of hair root as a source of DNA for the detection of heterozygotes for recessive defects in cattle Australian Veterinary Journal 72:392, 1995. Pubmed reference: 8599573. | |
| Shibuya, H., Nonneman, D., Tamassia, M., Allphin, O.L., Johnson, G.S. : | |
| The coding sequence of the bovine ferrochelatase gene. Biochim Biophys Acta 1231:117-20, 1995. Pubmed reference: 7640290. DOI: 10.1016/0005-2728(95)00077-v. | |
| 1993 | Healy, P.J., Dennis, J.A. : |
| Inherited Enzyme Deficiencies in Livestock Veterinary Clinics of North America - Food Animal Practice 9:55-63, 1993. Pubmed reference: 8457930. | |
| 1992 | Healy, P.J., Camilleri, L., Poulos, V., Hart, K.G., Kemp, B.J., Moore, R.E., Dooley, J., Warner, M. : |
| Protoporphyria in Limousin Cattle Australian Veterinary Journal 69:144-145, 1992. Pubmed reference: 1642600. | |
| 1991 | Lauvergne, J.J., Pinault, L. : |
| Hereditary Protoporphyria in French Limousin Cattle - 1st Results Genetics Selection Evolution 23:339-343, 1991. | |
| Schelcher, F., Delverdier, M., Bezille, P., Cabanie, P., Espinasse, J. : | |
| Observation on Bovine Congenital Erythrocytic Protoporphyria in the Blonde Daquitaine Breed Veterinary Record 129:403-407, 1991. Pubmed reference: 1767483. | |
| Straka, J.G., Hill, H.D., Krikava, J.M., Kools, A.M., Bloomer, J.R. : | |
| Immunochemical Studies of Ferrochelatase Protein - Characterization of the Normal and Mutant Protein in Bovine and Human Protoporphyria American Journal of Human Genetics 48:72-78, 1991. Pubmed reference: 1985464. | |
| Troyer, D.L., Ayers, J., Wollen, H., Leipold, H.W., Cook, J.E. : | |
| Gross, microscopic and ultrastructural lesions of protoporphyria in Limousin calves. Zentralbl Veterinarmed A 38:300-5, 1991. Pubmed reference: 1907789. DOI: 10.1111/j.1439-0442.1991.tb01016.x. | |
| 1990 | Bloomer, J.R., Straka, J.G., Hill, H., Weimer, M.K., Ruth, G.R. : |
| Comparison of Bile Porphyrin Concentrations in Cattle and Human Beings with Protoporphyria American Journal of Veterinary Research 51:1144-1146, 1990. Pubmed reference: 2389893. | |
| 1987 | Bloomer, JR., Hill, HD., Morton, KO., Anderson-Burnham, LA., Straka, JG. : |
| The enzyme defect in bovine protoporphyria. Studies with purified ferrochelatase. J Biol Chem 262:667-71, 1987. Pubmed reference: 3805002. | |
| 1982 | Bloomer, JR., Morton, KO., Reuter, RJ., Ruth, GR. : |
| Bovine protoporphyria: documentation of autosomal recessive inheritance and comparison with the human disease through measurement of heme synthase activity. Am J Hum Genet 34:322-30, 1982. Pubmed reference: 7072720. | |
| 1981 | Sassa, S., Schwartz, S., Ruth, G. : |
| Accumulation of protoporphyrin IX from delta-aminolevulinic acid in bovine skin fibroblasts with hereditary erythropoietic protoporphyria. A gene-dosage effect. J Exp Med 153:1094-101, 1981. Pubmed reference: 6788885. | |
| 1979 | Brenner, DA., Bloomer, JR. : |
| Comparison of human and bovine protoporphyria. Yale J Biol Med 52:449-54, 1979. Pubmed reference: 392959. | |
| 1977 | Ruth, GR., Schwartz, S., Stephenson, B. : |
| Bovine protoporphyria: the first nonhuman model of this hereditary photosensitizing disease. Science 198:199-201, 1977. Pubmed reference: 905823. | |
| 1976 | Schwartz, S., O'Connor, N., Stephenson, BD., Anderson, AS., Johnson, LW., Johnson, J. : |
| Turnover of erythrocyte protoporphyrin, with special reference to bovine porphyria and iron deficiency anemia. Ann Clin Res 8 Suppl 17:203-12, 1976. Pubmed reference: 1008492. |
Edit History
- Created by Frank Nicholas on 26 Nov 2005
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 04 Sep 2012
- Changed by Frank Nicholas on 28 Aug 2016
- Changed by Imke Tammen2 on 24 Nov 2021
- Changed by Imke Tammen2 on 18 Jun 2024
- Changed by Imke Tammen2 on 15 Oct 2024