title: Identification of an intronic regulatory mutation at the buffalo αS1-casein gene that triggers the skipping of exon 6.
abstract: The characterization of casein polymorphism is an essential step in order to understand the genetic basis of milk quality in dairy ruminants. In this work, we report the identification of a regulatory mutation at the buffalo αs1-casein (CSN1S1) gene that alters the normal processing of the primary transcript. Sequencing of CSN1S1 cDNA from individuals harbouring this new variant revealed that its most distinctive feature is the loss of exon 6 that encodes eight amino acids between positions 35-42 of mature protein. In an effort to map the causal mutation, we sequenced a genomic region spanning exons 5-7 of the buffalo CSN1S1 gene. This experiment allowed us to establish that exon 6-skipping is produced by a G to C substitution at the first position of intron 6 that inactivates the donor splice site. This mutation can be typed by PCR-RFLP by using either TaaI or Bpu10I diagnostic restriction enzymes, and it has a frequency of 0.18 in Romanian buffaloes. This exon skipping phenomenon is the first one described in buffalo CSN1S1 locus.
authors: Department of Biotechnology, Faculty of Animal Husbandry and Biotechnology, University of Agricultural Sciences and Veterinary Medicine Cluj-Napoca, 3-5 Manastur Road, 400372, Cluj-Napoca, Romania. avbalteanu@yahoo.com
authors: Valentin Adrian
authors: VA
authors: Balteanu
authors: Teodora Crina
authors: TC
authors: Carsai
authors: Augustin
authors: A
authors: Vlaic
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D001483:Base Sequence; D002020:Buffaloes / Q000235:genetics*; D002364:Caseins / Q000235:genetics*; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons; D005787:Gene Frequency; D005838:Genotype; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D012045:Regulatory Sequences, Nucleic Acid
chemical_list: D002364:Caseins; D018076:DNA, Complementary
references: Mol Biol Rep. 2011 Apr;38(4):2821-5
references: 21086177
references: Methods Mol Biol. 2000;132:365-86
references: 10547847
references: Nucleic Acids Res. 1990 Dec 11;18(23):6829-33
references: 2263448
references: Gene. 2005 Jan 31;345(2):289-99
references: 15716101
references: J Cell Sci. 1999 Oct;112 ( Pt 19):3399-412
references: 10504344
references: Genet Sel Evol. 2004 Mar-Apr;36(2):243-57
references: 15040901
references: DNA Seq. 2007 Oct;18(5):334-40
references: 17654008
references: J Dairy Sci. 2007 Apr;90(4):1962-6
references: 17369237
references: Eur J Biochem. 2002 Feb;269(4):1293-303
references: 11856364
references: J Biol Chem. 1992 Mar 25;267(9):6147-57
references: 1372900
references: Cytogenet Cell Genet. 1993;64(3-4):281-5
references: 8404055
references: Gene. 1994 Sep 30;147(2):179-87
references: 7926797
references: Nucleic Acids Res. 1990 Dec 11;18(23):6935-42
references: 1979856
references: J Dairy Sci. 2009 Jun;92(6):2960-4
references: 19448028
references: Reprod Nutr Dev. 2002 Sep-Oct;42(5):433-59
references: 12537255
references: J Dairy Sci. 2009 Mar;92(3):1192-202
references: 19233813
references: J Dairy Res. 1999 Aug;66(3):409-19
references: 10480079
references: J Dairy Sci. 2008 Oct;91(10):4022-7
references: 18832228
references: Gene. 1994 Jun 10;143(2):187-92
references: 8206372
references: Peptides. 1999;20(8):957-62
references: 10503774
references: Anim Genet. 2009 Oct;40(5):791
references: 19422363
references: Anim Genet. 2002 Aug;33(4):295-300
references: 12139509