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

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.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Brown Swiss Beta-lactoglobulin, aberrant low expression PAEP regulatory UMD3.1 11 g.103301704 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.
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