OMIA:001437-9913 : Lactoglobulin, beta, aberrant low expression in Bos taurus (taurine cattle)
Categories: Homeostasis / metabolism phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 173310 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2006
Mapping: This trait maps to the actual LBG gene (11q28)
Molecular basis: Braunschweig and Leeb (2006) showed that a "C to A transversion at position 215 bp upstream of the translation initiation site" of the beta-lactoglobulin (LBG) gene segregates with aberrant low expression of beta-lactoglobulin. Other symbols for this gene are BLG and PAEP, the latter being the official NCBI symbol.
Have human generated variants been created, e.g. through genetic engineering and gene editing
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PAEP||progestagen-associated endometrial protein||Bos taurus||11||NC_037338.1 (103255756..103260862)||PAEP||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|
|428||Brown Swiss (Cattle)||Beta-lactoglobulin, aberrant low expression||PAEP||regulatory||Naturally occurring variant||ARS-UCD1.2||11||g.103255964C>A||c.-215C>A||"C to A transversion at position 215 bp upstream of the translation initiation site"||2006||17033029||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|
Cite this entry
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.
|2015||Wei, J., Wagner, S., Lu, D., Maclean, P., Carlson, D.F., Fahrenkrug, S.C., Laible, G. :|
|Efficient introgression of allelic variants by embryo-mediated editing of the bovine genome. Sci Rep 5:11735, 2015. Pubmed reference: 26156133. DOI: 10.1038/srep11735.|
|2006||Braunschweig, MH., Leeb, T. :|
|Aberrant low expression level of bovine beta-lactoglobulin is associated with a C to A transversion in the BLG promoter region. J Dairy Sci 89:4414-9, 2006. Pubmed reference: 17033029. DOI: 10.3168/jds.S0022-0302(06)72488-2.|
|1996||Kim, J.S., Braunschweig, M., Puhan, Z. :|
|Occurrence of extreme ratio of β-lactoglobulin variants A and B in Swiss Brown cattle quantified by capillary electrophoresis. Milchwissenschaft 51:435-438, 1996.|
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