OMIA 001424-9925 : Casein, beta, absence of in Capra hircus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1999

Molecular basis: By cloning and sequencing a very likely candidate gene (based on evidence of the lack of beta-casein in milk of affected animals), Pursuy et al. (1999) reported "a one-nucleotide deletion in the 5' end of exon 7 [of CSN2], which introduces a premature stop codon. The open reading frame of allele CSN2O encodes a shortened polypeptide of 72 amino acids, compared to 223 amino acids for caprine pre beta-casein A.". Cosenza et al. (2007) reported a "SNP in the goat CSN2 promoter region (AJ011018:g.1311T>C), which is associated with the absence of beta-casein in the milk".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CSN2 casein beta Capra hircus - no genomic information (-..-) CSN2 Homologene, Ensembl, NCBI gene

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.
2016 Cosenza, G., Iannaccone, M., Pico, B.A., Ramunno, L., Capparelli, R. :
The SNP g.1311T>C associated with the absence of β-casein in goat milk influences CSN2 promoter activity. Anim Genet 47:615-7, 2016. Pubmed reference: 27392512. DOI: 10.1111/age.12443.
2008 Chessa, S., Rignanese, D., Küpper, J., Pagnacco, G., Erhardt, G., Caroli, A. :
Short communication: the beta-casein (CSN2) silent allele C1 is highly spread in goat breeds. J Dairy Sci 91:4433-6, 2008. Pubmed reference: 18946150. DOI: 10.3168/jds.2008-1228.
2007 Cosenza, G., Pauciullo, A., Colimoro, L., Mancusi, A., Rando, A., Di Berardino, D., Ramunno, L. :
An SNP in the goat CSN2 promoter region is associated with the absence of beta-casein in milk. Anim Genet 38:655-8, 2007. Pubmed reference: 17931404. DOI: 10.1111/j.1365-2052.2007.01649.x.
2005 Cosenza, G., Pauciullo, A., Gallo, D., Berardino, D.D., Ramunno, L. :
A Ssp I PCR-RFLP detecting a silent allele at the goat CSN2 locus. J Dairy Res 72:456-9, 2005. Pubmed reference: 16223461. DOI: 10.1017/S0022029905001342.
Cunsolo, V., Galliano, F., Muccilli, V., Saletti, R., Marletta, D., Bordonaro, S., Foti, S. :
Detection and characterization by high-performance liquid chromatography and mass spectrometry of a goat beta-casein associated with a CSN2 null allele. Rapid Commun Mass Spectrom 19:2943-9, 2005. Pubmed reference: 16178051. DOI: 10.1002/rcm.2143.
1999 Persuy, M.A., Printz, C., Medrano, J.F., Mercier, J.C. :
A single nucleotide deletion resulting in a premature stop codon is associated with marked reduction of transcripts from a goat beta-casein null allele. Anim Genet 30:444-51, 1999. Pubmed reference: 10612234.

Edit History


  • Created by Frank Nicholas on 26 Nov 2005
  • Changed by Frank Nicholas on 08 Oct 2011
  • Changed by Frank Nicholas on 11 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 03 Feb 2012
  • Changed by Frank Nicholas on 15 Sep 2012