OMIA 001437-9913 : Beta-lactoglobulin, aberrant low expression in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 173310 (gene)

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 bete-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.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PAEP progestagen-associated endometrial protein Bos taurus 11 NC_037338.1 (103255963..103260862) PAEP 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.

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 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

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.
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.

Edit History


  • Created by Frank Nicholas on 27 Oct 2010
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 05 Aug 2013
  • Changed by Frank Nicholas on 11 Nov 2016