Register      Login
Animal Production Science Animal Production Science Society
Food, fibre and pharmaceuticals from animals
RESEARCH ARTICLE

Mediterranean river buffalo CSN1S1 gene: search for polymorphisms and association studies

G. Cosenza A , A. Pauciullo B F , N. P. P. Macciotta C , E. Apicella A , R. Steri C , A. La Battaglia D , L. Jemma A , A. Coletta E , D. Di Berardino A and L. Ramunno A
+ Author Affiliations
- Author Affiliations

A Dipartimento di Agraria, Università degli Studi di Napoli ‘Federico II’, via Università 100, Portici, NA 80055, Italy.

B Istituto per il Sistema Produzione Animale in Ambiente Mediterraneo, Consiglio Nazionale delle Ricerche, via Argine 1085, Napoli, 80147, Italy.

C Dipartimento di Agraria, Università degli Studi di Sassari, via De Nicola 9, Sassari, 07100, Italy.

D Comunità Montana Alto Agri, Villa D’Agri di Marsicovetere (PZ), 85050, Italy.

E Associazione Nazionale Allevatori Specie Bufalina, Via F. Petrarca 42-44 Località Centurano, Caserta, 81100, Italy.

F Corresponding author. Email: alfredo.pauciullo@cnr.it

Animal Production Science 55(5) 654-660 https://doi.org/10.1071/AN13438
Submitted: 23 October 2013  Accepted: 16 February 2014   Published: 20 May 2014

Abstract

The aim of the present study was to investigate the variability at CSN1S1 locus of the Italian Mediterranean river buffalo and to study possible allele effects on milk yield and its composition. Effects of parity, calving season and month of production were also evaluated. Three single-nucleotide polymorphisms were detected. The first mutation, located at position 89 of the 17th exon (c.628C>T), is responsible for the amino acid change p.Ser178 (B allele)/Leu178 (A allele). The other two polymorphisms, detected at the positions 144 (c.882G>A) and 239 (c.977A>G) of 19th exon, respectively, are silent (3ʹ UTR, untranslated region). Associations between the CSN1S1 genotypes and milk production traits were investigated using 4122 test day records of 503 lactations from 175 buffalo cows. Milk yield, fat and protein percentages were analysed using a mixed linear model. A significant association between the c.628C>T SNP and the protein percentage was found. In particular, the CC genotype showed an average value ~0.04% higher than the CT and TT genotypes. The allele substitution effect of cytosine into thymine was –0.014, with a quite low (0.3%) protein percentage contribution to total phenotypic variance. A large dominance effect was detected. Characterisation of the CSN1S1 transcripts and a method based on MboI amplification created restriction site PCR for a rapid genotyping of c.628C>T are provided.

Additional keywords: Bubalus bubalis, CSN1S1, marker-assisted selection, Mediterranean river buffalo, milk protein percentage.


References

Ajmone-Marsan P, Marco Milanesi M, Bombal, Colli L, Bacciu N, Ramunno L, Cosenza G, Coletta A, Zicarelli L, Fritz E, Koltes J, Reecy JM, Williams J, Iamartino D, Sonstegard TS, Van Tassell CP, The International Buffalo Consortium (2013) Biodiversity among buffalo genomes. In ‘XXI international plant and animal genome conference’, 12–16 January, San Diego, CA, USA.

Avondo M, Pagano RI, Guastella AM, Criscione A, Di Gloria M, Valenti B, Piccione G, Pennisi P (2009) Diet selection and milk production and composition in Girgentana goats with different αs1-casein genotype. The Journal of Dairy Research 76, 202–209.
Diet selection and milk production and composition in Girgentana goats with different αs1-casein genotype.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD1MXjsl2hs70%3D&md5=a309f15a9fe58932deababe0ec8e53b8CAS | 19281625PubMed |

Balteanu VA, Pop FD, Vlaic A, Rusu AR (2008) Multiple mutations events are characterizing alpha s1 casein Brv and beta casein Crv alleles discovered in Romanian buffalo breed. Bulletin of University Of Agricultural Sciences And Veterinary Medicine Cluj-Napoca. Animal Science and Biotechnologies 65, 478

Balteanu VA, Carsai TC, Vlaic A (2013) Identification of an intronic regulatory mutation at the buffalo αs1-casein gene that triggers the skipping of exon 6. Molecular Biology Reports 40, 4311–4316.
Identification of an intronic regulatory mutation at the buffalo αs1-casein gene that triggers the skipping of exon 6.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BC3sXps1Cmtro%3D&md5=a47efd76e3f02a184787bb2e5cf27bb5CAS | 23640099PubMed |

Banos G, Woolliams JA, Woodward BW, Forbes AB, Coffey MP (2008) Impact of single nucleotide polymorphisms in leptin, leptin receptor, growth hormone receptor, and diacylglycerol acyltransferase (DGAT1) gene loci on milk production, feed, and body energy traits of UK dairy cows. Journal of Dairy Science 91, 3190–3200.
Impact of single nucleotide polymorphisms in leptin, leptin receptor, growth hormone receptor, and diacylglycerol acyltransferase (DGAT1) gene loci on milk production, feed, and body energy traits of UK dairy cows.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD1cXps1Ogsbk%3D&md5=c51333b419127959f04b90feedd713f5CAS | 18650297PubMed |

Barendse W, Harrison BE, Bunch RJ, Thomas MB (2008) Variation at the Calpain 3 gene is associated with meat tenderness in zebu and composite breeds of cattle. BMC Genetics 9, 41
Variation at the Calpain 3 gene is associated with meat tenderness in zebu and composite breeds of cattle.Crossref | GoogleScholarGoogle Scholar | 18590576PubMed |

Barile VL (2005) Improving reproductive efficiency in female buffaloes. Livestock Production Science 92, 183–194.
Improving reproductive efficiency in female buffaloes.Crossref | GoogleScholarGoogle Scholar |

Bonanno A, Finocchiaro R, Di Grigoli A, Sardina MT, Tornambè D, Gigli I (2007) Energy intake effects at pasture on milk production and coagulation properties in Girgentana goats with different αs1-casein genotypes. In ‘Proceedings symposium of the International Goat Association (IGA). The quality of goats products’. p. 70. (CRA–Uze: Bella, Italy)

Bonfatti V, Giantin M, Gervaso M, Coletta A, Dacasto M, Carnier P (2012a) Effect of CSN1S1–CSN3 (α(S1)-κ-casein) composite genotype on milk production traits and milk coagulation properties in Mediterranean water buffalo. Journal of Dairy Science 95, 3435–3443.
Effect of CSN1S1–CSN3 (α(S1)-κ-casein) composite genotype on milk production traits and milk coagulation properties in Mediterranean water buffalo.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BC38Xntlylt78%3D&md5=69d436e8a5eb11f0108f9e80280390bcCAS | 22612978PubMed |

Bonfatti V, Giantin M, Gervaso M, Rostellato R, Coletta A, Dacasto M, Carnier P (2012b) CSN1S1–CSN3 (αs1-k-casein) composite genotypes affect detailed milk protein composition of Mediterranean water buffalo. Journal of Dairy Science 95, 6801–6805.
CSN1S1–CSN3 (αs1-k-casein) composite genotypes affect detailed milk protein composition of Mediterranean water buffalo.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BC38XhsFClt7nP&md5=c2f93dc88e9400c776619734b22df0f5CAS | 22959943PubMed |

Çardak AD (2005) Effects of genetic variants in milk protein on yield and composition from Holstein–Friesian and Simmentaler cows. South African Journal of Animal Science 35, 41–47.

Chianese L, Quarto M, Pizzolongo F, Calabrese MG, Caira S, Mauriello R, De Pascale S, Addeo F (2009) Occurrence of genetic polymorphism at the alpha(s1)-casein locus in Mediterranean water buffalo milk. International Dairy Journal 19, 181–189.
Occurrence of genetic polymorphism at the alpha(s1)-casein locus in Mediterranean water buffalo milk.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD1MXhs1ans7o%3D&md5=1987a5607cb16d879b6d2171d748e4daCAS |

Chilliard Y, Rouel J, Leroux C (2006) Goats alpha-s1-casein genotype influences its milk fatty acid composition and delta-9 desaturation ratios. Animal Feed Science and Technology 131, 474–487.
Goats alpha-s1-casein genotype influences its milk fatty acid composition and delta-9 desaturation ratios.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD28XhtF2qu7rM&md5=5b8636b865e576d441f2692dc5cac908CAS |

Cosenza G, Pauciullo A, Mancusi A, Nicodemo D, Di Palo R, Zicarelli L, Di Berardino D, Ramunno L (2007) Mediterranean river buffalo oxytocin-neurophysin I (OXT) gene: structure, promoter analysis and allele detection. Italian Journal of Animal Science 6, 303–306.
Mediterranean river buffalo oxytocin-neurophysin I (OXT) gene: structure, promoter analysis and allele detection.Crossref | GoogleScholarGoogle Scholar |

Cosenza G, Feligini M, Mancusi A, D’Avino A, Coletta A, Di Berardino D, Ramunno L (2009a) Italian Mediterranean river buffalo CSN2 gene structure and promoter analysis. Italian Journal of Animal Science 8, 57–59.
Italian Mediterranean river buffalo CSN2 gene structure and promoter analysis.Crossref | GoogleScholarGoogle Scholar |

Cosenza G, Pauciullo A, Feligini M, Coletta A, Colimoro L, Di Berardino D, Ramunno L (2009b) A point mutation in the splice donor site of intron 7 in the αs2-casein encoding gene of the Mediterranean River buffalo results in an allele-specific exon skipping. Animal Genetics 40, 791
A point mutation in the splice donor site of intron 7 in the αs2-casein encoding gene of the Mediterranean River buffalo results in an allele-specific exon skipping.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD1MXht1Kit7jN&md5=c0858d2a5791fb3e19bdd8cb9a13fafcCAS | 19422363PubMed |

Ferranti P, Scaloni A, Caira S, Chianese L, Malorni A, Addeo F (1998a) The primary structure of water buffalo alpha(s1)- and beta-casein identification of phosphorylation sites and characterization of a novel beta-casein variant. Journal of Protein Chemistry 17, 835–844.
The primary structure of water buffalo alpha(s1)- and beta-casein identification of phosphorylation sites and characterization of a novel beta-casein variant.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DyaK1MXnslaktA%3D%3D&md5=d570f0789eacd6812fe99dccbea3a901CAS | 9988530PubMed |

Ferranti P, Chianese L, Malorni A, Migliaccio F, Stingo V, Addeo F (1998b) Copresence of deleted protein species generates structural heterogeneity of ovine alpha(s1)-casein. Journal of Agricultural and Food Chemistry 46, 411–416.
Copresence of deleted protein species generates structural heterogeneity of ovine alpha(s1)-casein.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DyaK1cXms1Crtg%3D%3D&md5=64d7e631dbcc8821cefc6637e2e1a9ffCAS | 10554255PubMed |

Ferranti P, Lilla S, Chianese L, Addeo F (1999) Alternative nonallelic deletion is constitutive of ruminant alpha(s1)-casein. Journal of Protein Chemistry 18, 595–602.
Alternative nonallelic deletion is constitutive of ruminant alpha(s1)-casein.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DyaK1MXms1Wrsbw%3D&md5=545a1949f0e84fd523820e24ceed1b13CAS | 10524777PubMed |

Goossens M, Kan YW (1981) DNA analysis in the diagnosis of hemoglobin disorders. Methods in Enzymology 76, 805–817.
DNA analysis in the diagnosis of hemoglobin disorders.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DyaL38Xhtl2hsrw%3D&md5=af266c45f4fe0b8bc0640bca55c39d45CAS | 6276651PubMed |

Grosclaude F, Ricordeau G, Martin P, Remeuf F, Vassal L, Bouillon J (1994) From gene to cheese: caprine alpha s1 casein polymorphism, its effects and its evolution. Productions Animales 7, 3–19.

Ibeagha-Awemu EM, Kgwatalala P, Zhao X (2008) A critical analysis of production-associated DNA polymorphisms in the genes of cattle, goat, sheep and pig. Mammalian Genome 19, 591–617.
A critical analysis of production-associated DNA polymorphisms in the genes of cattle, goat, sheep and pig.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD1MXhsV2hurw%3D&md5=46fe43d92d1ebee3fe039f7a8f215b7bCAS | 18836775PubMed |

Koczan D, Hobom G, Seyfert HM (1991) Genomic organization of the bovine alpha-S1 casein gene. Nucleic Acids Research 19, 5591–5596.
Genomic organization of the bovine alpha-S1 casein gene.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DyaK38XmsVKgsLw%3D&md5=888bc21f754fff23216f1b1f9e6778e4CAS | 1658736PubMed |

Lien S, Alestrom P, Klungland H, Rogne S (1992) Detection of multiple beta-casein (CASB) alleles by amplification created restriction sites (ACRS). Animal Genetics 23, 333–338.
Detection of multiple beta-casein (CASB) alleles by amplification created restriction sites (ACRS).Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DyaK3sXhs1Sn&md5=148a3b9dd7ec08d019fe8eedecf1e0bdCAS | 1503272PubMed |

Martin P, Szymanowska M, Zwierzchowski L, Leroux C (2002) The impact of genetic polymorphisms on the protein composition of ruminant milks. Reproduction, Nutrition, Development 42, 433–459.
The impact of genetic polymorphisms on the protein composition of ruminant milks.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD3sXps1OltA%3D%3D&md5=0b168c32b765da5b6f1e469943ee935eCAS | 12537255PubMed |

Masina P, Rando A, Di Gregorio P, Cosenza G, Mancusi A (2007) Water buffalo kappa-casein gene sequence. Italian Journal of Animal Science 6, 353–355.
Water buffalo kappa-casein gene sequence.Crossref | GoogleScholarGoogle Scholar |

Mroczkowski S, Korman K, Erhardt G, Piwczyński D, Borys B (2004) Sheep milk protein polymorphism and its effect on milk performance of Polish Merino. Archives Animal Breeding. Dummerstorf 47, 114–121.

Pauciullo A, Cosenza G, D’Avino A, Colimoro L, Nicodemo D, Coletta A, Feligini M, Marchitelli C, Di Berardino D, Ramunno L (2010) Sequence analysis and genetic variability of stearoyl CoA desaturase (SCD) gene in the Italian Mediterranean river buffalo. Molecular and Cellular Probes 24, 407–410.
Sequence analysis and genetic variability of stearoyl CoA desaturase (SCD) gene in the Italian Mediterranean river buffalo.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BC3cXhtlKrs7fN&md5=ed86e4d36477b71680e7c14af6a7db51CAS | 20691778PubMed |

Pauciullo A, Cosenza G, Steri R, Coletta A, Jemma L, Feligini M, Di Berardino D, Macciotta NPP, Ramunno L (2012a) An association between single nucleotide polymorphisms at the oxytocin locus and milk yield in Italian Mediterranean river buffalo. The Journal of Dairy Research 79, 150–156.
An association between single nucleotide polymorphisms at the oxytocin locus and milk yield in Italian Mediterranean river buffalo.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BC38XlvVGmsLg%3D&md5=7f1bfe59bd395da5d1b57bb9664df695CAS | 22280971PubMed |

Pauciullo A, Cosenza G, Steri R, Coletta A, La Battaglia A, Di Berardino D, Macciotta NPP, Ramunno L (2012b) A single nucleotide polymorphism (SNP) in the promoter region of River buffalo stearoyl CoA desaturase gene (SCD) is associated with milk yield. The Journal of Dairy Research 79, 429–435.
A single nucleotide polymorphism (SNP) in the promoter region of River buffalo stearoyl CoA desaturase gene (SCD) is associated with milk yield.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BC38Xhs1ars7bI&md5=64c277e59fa9483691f490cb2edb2177CAS | 22994977PubMed |

Pirisi A, Piredda G, Papoff CM, Di Salvo R, Pintus S, Garro G, Ferranti P, Chianese L (1999) Effects of sheep alpha s1-casein CC, CD and DD genotypes on milk composition and cheesemaking properties. The Journal of Dairy Research 66, 409–419.
Effects of sheep alpha s1-casein CC, CD and DD genotypes on milk composition and cheesemaking properties.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DyaK1MXlsFClur8%3D&md5=b532b70ed8ad7753164f18d576c8b169CAS | 10480079PubMed |

Prinzenberg EM, Weimann C, Brandt H, Bennewitz J, Kalm E, Schwerin M, Erhardt G (2003) Polymorphism of the bovine CSN1S1 promoter: linkage mapping, intragenic haplotypes, and effects on milk production traits. Journal of Dairy Science 86, 2696–2705.
Polymorphism of the bovine CSN1S1 promoter: linkage mapping, intragenic haplotypes, and effects on milk production traits.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD3sXmt1SrsLs%3D&md5=93685ddbeec3cdf8f0d0a3504f116685CAS | 12939094PubMed |

Ramunno L, Cosenza G, Rando A, Illario R, Gallo D, Di Berardino D, Masina P (2004) The goat αs1-casein gene: gene structure and promoter analysis. Gene 334, 105–111.
The goat αs1-casein gene: gene structure and promoter analysis.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD2cXlsFensLc%3D&md5=76eeb4e54d54df72a270fdaa9756f11eCAS | 15256260PubMed |

Ramunno L, Cosenza G, Rando A, Pauciullo A, Illario R, Gallo D, Di Berardino D, Masina P (2005) Comparative analysis of gene sequence of goat CSN1S1 F and N alleles and characterization of CSN1S1 transcript variants in mammary gland. Gene 345, 289–299.
Comparative analysis of gene sequence of goat CSN1S1 F and N alleles and characterization of CSN1S1 transcript variants in mammary gland.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD2MXhtlCjurc%3D&md5=6da79e9cabc69d66680cbfdfc3051ab3CAS | 15716101PubMed |

Rando A, Di Gregorio P, Ramunno L, Mariani P, Fiorella A, Senese C, Marletta D, Masina P (1998) Characterization of the CSN1AG allele of the bovine αs1-casein locus by the insertion of a relict of a long interspersed element. Journal of Dairy Science 81, 1735–1742.
Characterization of the CSN1AG allele of the bovine αs1-casein locus by the insertion of a relict of a long interspersed element.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DyaK1cXkvVyru7g%3D&md5=4a3337d5668da1b045f30088e95f7ed3CAS | 9684181PubMed |

Schmidely Ph, Meschy F, Tessier J, Sauvant D (2002) Lactation response and nitrogen, calcium, and phosphorus utilization of dairy goats differing by the genotype for alpha S1-casein in milk, and fed diets varying in crude protein concentration. Journal of Dairy Science 85, 2299–2307.
Lactation response and nitrogen, calcium, and phosphorus utilization of dairy goats differing by the genotype for alpha S1-casein in milk, and fed diets varying in crude protein concentration.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD38XnsV2nsL8%3D&md5=a837b654fa78ab28ef8ff68066efe7c4CAS | 12362463PubMed |

Sukla S, Bhattacharya TK, Venkatachalapathy RT, Kumar P, Sharma A (2007) Molecular cloning and characterization of buffalo alpha(s1)-casein gene. DNA Sequence 18, 334–340.
Molecular cloning and characterization of buffalo alpha(s1)-casein gene.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD2sXotVKqt7Y%3D&md5=e63e832c94d24ebc6eb65e415b212957CAS | 17654008PubMed |

Wessels G, Hamann H, Erhardt G, Distl O (2004) Genotype effects of milk protein polymorphisms on milk production in East Friesian dairy sheep. Berliner und Munchener Tierarztliche Wochenschrift 117, 414–419. [In German]

Yue XP, Zhang XM, Wang W, Ma RN, Deng CJ, Lan XY, Chen H, Li F, Xu XR, Ma Y, Lei CZ (2011) The CSN1S1 N and F alleles identified by PCR–SSCP and their associations with milk yield and composition in Chinese dairy goats. Molecular Biology Reports 38, 2821–2825.
The CSN1S1 N and F alleles identified by PCR–SSCP and their associations with milk yield and composition in Chinese dairy goats.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BC3MXktlOktr8%3D&md5=56ade17252f2f1ef54701b1409488334CAS | 21086177PubMed |