OMIA 000852-9925 : Casein, alpha-S1, reduced concentration in Capra hircus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 115450 (gene)

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."

Associated gene:

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

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.

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

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.
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.

Edit History


  • 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