Molecular Biology Reports

, Volume 40, Issue 7, pp 4311–4316 | Cite as

Identification of an intronic regulatory mutation at the buffalo αS1-casein gene that triggers the skipping of exon 6

  • Valentin Adrian Balteanu
  • Teodora Crina Carsai
  • Augustin Vlaic
Article
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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.

Keywords

Buffalo Milk CSN1S1 Polymorphism Exon skipping 
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Notes

Acknowledgments

This work was supported by Executive Unit for Financing Higher Education, Research Development and Innovation Romania, Project IDEAS 2545, 1122/2009 and University of Agricultural Sciences and Veterinary Medicine Cluj-Napoca, Project RU-ISI 1351. Thanks to Dr. Marcel Amills for his critical revision of the manuscript.

Supplementary material

11033_2013_2518_MOESM1_ESM.pdf (110 kb)
Supplementary material 1 (PDF 109 kb)

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Copyright information

© Springer Science+Business Media Dordrecht 2013

Authors and Affiliations

  • Valentin Adrian Balteanu
    • 1
  • Teodora Crina Carsai
    • 1
  • Augustin Vlaic
    • 1
  1. 1.Department of Biotechnology, Faculty of Animal Husbandry and BiotechnologyUniversity of Agricultural Sciences and Veterinary Medicine Cluj-NapocaCluj-NapocaRomania

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