OMIA:001424-9925 : Casein, beta, absence of in Capra hircus (goat)
Possibly relevant human trait(s) and/or gene(s) (MIM number): 115460 (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: 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".
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|
|CSN2||casein beta||Capra hircus||-||no genomic information (-..-)||CSN2||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|
|1312||Absence of β‐casein||CSN2||CSN2^0||deletion, small (<=20)||Naturally occurring variant||ARS1||6||g.86008404del||c.175del||p.I59Sfs*10||Changed from g.86008401del to g.86008404del to adhere to the HGVS 3’rule  ENSCHIT00000032661.1:c.175del ENSCHIP00000024801.1:p.Ile59SerfsTer10 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."||rs645737170||rs645737170||1999||10612234|
|1311||Absence of β‐casein||CSN2||CSN2^01||regulatory||Naturally occurring variant||ARS1||6||g.86015651A>G||Cosenza et al. (2016): "nucleotide C .... negatively affects the promoter activity of the CSN2 gene" Synonyms: dbSNP ss1245869815||rs654545998||rs654545998||2007||17931404||The genomic location on ARS1 was determined by Katie Eager, EMAI, NSW Department of Primary Industries|
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.
|2022||Rahmatalla, S.A., Arends, D., Brockmann, G.A. :|
|Review: Genetic and protein variants of milk caseins in goats. Front Genet 13:995349, 2022. Pubmed reference: 36568379. DOI: 10.3389/fgene.2022.995349.|
|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.|
- Created by Frank Nicholas on 26 Nov 2005
- Changed by Frank Nicholas on 08 Oct 2011
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- Changed by Frank Nicholas on 15 Sep 2012