OMIA:000852-9925 : Casein, alpha-S1, reduced concentration in Capra hircus
Categories: Endocrine / exocrine gland phene (incl mammary gland)
Possibly relevant human trait(s) and/or gene(s) (MIM number): 115450 (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: 1994
Molecular basis: Perez et al. (1994) reported that the E allele of the goat alpha(s1)-casein gene, which is associated with reduced casein concentration, contains "a 457-bp insertion within exon 19 (last untranslated exon). This insert is a truncated long interspersed repeated element (LINE) containing part of the ORF-2, the 3' UTR and the poly(A) tail of the original retroposon."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CSN1S1||casein alpha s1||Capra hircus||6||NC_030813.1 (85978463..85995270)||CSN1S1||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|
|692||Casein, alpha-S1, reduced concentration||CSN1S1||insertion, gross (>20)||Naturally occurring variant||6||"a 457-bp insertion within exon 19 (last untranslated exon). This insert is a truncated long interspersed repeated element (LINE) containing part of the ORF-2, the 3' UTR and the poly(A) tail of the original retroposon."||1994||7926797|
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.|
|2011||Caravaca, F., Ares, J.L., Carrizosa, J., Urrutia, B., Baena, F., Jordana, J., Badaoui, B., Sànchez, A., Angiolillo, A., Amills, M., Serradilla, J.M. :|
|Effects of α s1-casein (CSN1S1) and κ-casein (CSN3) genotypes on milk coagulation properties in Murciano-Granadina goats. J Dairy Res 78:32-7, 2011. Pubmed reference: 21214964 . DOI: 10.1017/S002202991000083X.|
|Dagnachew, B.S., Thaller, G., Lien, S., Ådnøy, T. :|
|Casein SNP in Norwegian goats: additive and dominance effects on milk composition and quality. Genet Sel Evol 43:31, 2011. Pubmed reference: 21864407 . DOI: 10.1186/1297-9686-43-31.|
|1994||Perez, M.J., Leroux, C., Bonastre, A.S., Martin, P. :|
|Occurrence of a LINE sequence in the 3' UTR of the goat alpha(s1)-casein E-encoding allele associated with reduced protein synthesis level Gene 147:179-187, 1994. Pubmed reference: 7926797 .|
- Created by Frank Nicholas on 17 Nov 2005
- Changed by Frank Nicholas on 11 Oct 2011
- Changed by Frank Nicholas on 17 Nov 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 03 Feb 2012