OMIA 001079-9913 : Yellow fat in Bos taurus

In other species: sheep , rabbit , horse , pig

Possibly relevant human trait(s) and/or gene(s) (MIM number): 611740 (gene)

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2009

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
BCO2 beta-carotene oxygenase 2 Bos taurus 15 NC_037342.1 (22513065..22580770) BCO2 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
Holstein Yellow fat BCO2 nonsense (stop-gain) ARS-UCD1.2 15 g.22552375G>A c.306G>A 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.

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.
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