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

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 Year Published PubMed ID(s) Acknowledgements
absence of β‐casein CSN2 CSN2^0 deletion, small (<=20) ARS1 6 g.86008401delA Persuy et al. (1999): "allele CSN2^O had a one-nucleotide deletion in the 5' end of exon 7, which introduces a premature stop codon. The open reading frame of allele CSN2^O encodes a shortened polypeptide of 72 amino acids, compared to 223 amino acids for caprine pre beta-casein A." 1999 10612234 The genomic location on ARS1 was determined by Katie Eager, EMAI, NSW Department of Primary Industries
absence of β‐casein CSN2 CSN2^01 regulatory ARS1 6 g.86015651A>G Cosenza et al. (2016): "nucleotide C .... negatively affects the promoter activity of the CSN2 gene" 2007 17931404 The genomic location on ARS1 was determined by Katie Eager, 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.
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