title: Sequence analysis and genetic variability of stearoyl CoA desaturase (SCD) gene in the Italian Mediterranean river buffalo.
abstract: Stearoyl-CoA desaturase (SCD) plays a key metabolic role by changing the saturated FA content of ruminant milk and meat. In this study we characterized for the first time the stearoyl-CoA desaturase (SCD) gene in river buffalo (Bubalus bubalis) and investigated its genetic variability. On a total of 78 buffaloes, 15 SNPs were detected and 6 of them were preliminarily genotyped. In particular, the g.133A>C SNP was found to create a new consensus site for the SP1 binding site, thus generating a new tandem repeat in the promoter region. A preliminary association study with the milk fatty acid content showed that the C allele significantly affects the total desaturation index (P<0.01). Linkage disequilibrium analysis allowed identification of 7 haplotypes and 4 tag SNPs. Such polymorphisms could represent useful genetic markers for association studies with fatty acid composition, but further studies are needed to evaluate their potential use to improve the nutritional quality of the dairy products.
authors.affiliation: Department of Soil, Plant, Environment and Animal Production Science, University of Naples Federico II, Via Università 100, 80055 Portici (NA), Italy.
authors.forename: A
authors.initials: A
authors.lastname: Pauciullo
authors.forename: G
authors.initials: G
authors.lastname: Cosenza
authors.forename: A
authors.initials: A
authors.lastname: D'Avino
authors.forename: L
authors.initials: L
authors.lastname: Colimoro
authors.forename: D
authors.initials: D
authors.lastname: Nicodemo
authors.forename: A
authors.initials: A
authors.lastname: Coletta
authors.forename: M
authors.initials: M
authors.lastname: Feligini
authors.forename: C
authors.initials: C
authors.lastname: Marchitelli
authors.forename: D
authors.initials: D
authors.lastname: Di Berardino
authors.forename: L
authors.initials: L
authors.lastname: Ramunno
mesh_terms: D000818:Animals; D002020:Buffaloes / Q000235:genetics*; D005227:Fatty Acids / Q000378:metabolism; D005787:Gene Frequency / Q000235:genetics; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D007558:Italy; D016018:Least-Squares Analysis; D015810:Linkage Disequilibrium / Q000235:genetics; D008522:Mediterranean Sea; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D045483:Rivers; D017422:Sequence Analysis, DNA / Q000379:methods*; D013230:Stearoyl-CoA Desaturase / Q000235:genetics*
chemical_list: D005227:Fatty Acids; D013230:Stearoyl-CoA Desaturase