OMIA:001079-9913 : Yellow fat in Bos taurus (taurine cattle) |
In other species: horse , pig , sheep , rabbit
Categories: Adipose tissue phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 611740 (gene)
Single-gene trait/disorder: yes
Disease-related: no
Key variant known: yes
Year key variant first reported: 2009
Breed:
Holstein Friesian (Cattle) (VBO_0000239).
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 |
|---|---|---|---|---|---|---|
| BCO2 | beta-carotene oxygenase 2 | Bos taurus | 15 | NC_037342.1 (22513068..22580768) | BCO2 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 305 | Holstein Friesian (Cattle) | Yellow fat | BCO2 | nonsense (stop-gain) | Naturally occurring variant | ARS-UCD1.3 | 15 | NC_037342.1:g.22552375G>A | NM_001101987.2:c.306G>A | NP_001095457.2:p.(W102*) | UMD3.1 position is g.22877552G>A; cDNA position is based on XM_024975217.1 | rs109226280 | 2009 | 19398771 | Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446. The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries. |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001079-9913: 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.
| 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. | |
| 2012 | Tian, R., Cullen, N.G., Morris, C.A., Fisher, P.J., Pitchford, W.S., Bottema, C.D. : |
| Major effect of retinal short-chain dehydrogenase reductase (RDHE2) on bovine fat colour. Mamm Genome 23:378-86, 2012. Pubmed reference: 22451137. DOI: 10.1007/s00335-012-9396-0. | |
| 2010 | Tian, R., Pitchford, W.S., Morris, C.A., Cullen, N.G., Bottema, C.D. : |
| Genetic variation in the beta, beta-carotene-9', 10'-dioxygenase gene and association with fat colour in bovine adipose tissue and milk. Anim Genet 41:253-9, 2010. Pubmed reference: 19968649. DOI: 10.1111/j.1365-2052.2009.01990.x. | |
| 2009 | Berry, SD., Davis, SR., Beattie, EM., Thomas, NL., Burrett, AK., Ward, HE., Stanfield, AM., Biswas, M., Ankersmit-Udy, AE., Oxley, PE., Barnett, JL., Pearson, JF., van der Does, Y., Macgibbon, AH., Spelman, RJ., Lehnert, K., Snell, RG. : |
| Mutation in bovine beta-carotene oxygenase 2 affects milk color. Genetics 182:923-6, 2009. Pubmed reference: 19398771. DOI: 10.1534/genetics.109.101741. |
Edit History
- Created by Frank Nicholas on 03 Sep 2010
- Changed by Frank Nicholas on 14 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Imke Tammen2 on 18 Jun 2024