Genetski polimorfizam β-laktoglobulina u paške ovce

Milk samples from 248 Pag ewes, belonging to 14 different flocks and located through the Pag Island (Croatia), were analyzed by isoelectrofocusing and PCR-RFLP. Two genetic variants (A and B) and three genotypes (AA, AB and BB) of β-lactoglobulin have been identified. According to the allele frequency (A=0.48, B=0.52) and occurrence of genetic variants, the Pag breed is similar to other Mediterranean dairy sheep breeds. The observed genotype frequencies at the β-lactoglobulin locus (AA=0.185, AB=0.589 and BB=0.226) were significantly different from those expected from Hardy-Weinberg equilibrium. In comparison with 12 different studies related to Mediterranean dairy sheep populations, the significant departure from Hardy-Weinberg was also obtained in Valle del Belice sheep. However, the sample size required for detection of the same amount of departure from the Hardy-Weinberg as it was observed in Pag sheep was only sufficient in four studies (including Pag sheep). The superiority of the AB β-lactoglobulin genotype for milk production could be one of possible reasons for the observed excess of heterozygotes and allele frequencies at intermediate level.Uzorci mlijeka od 248 paških ovaca iz 14 različitih stada lociranih po cijelom otoku Pagu analizirani su tehnikama izoelektričnog fokusiranja i PCR-RFLP. Identificirane su dvije genetske varijante (A i B) i tri genotipa (AA, AB i BB) β-laktoglobulina. Po frekvenciji alela (A=0.48, B=0.52) i prisutnosti genetskih varijanti paška je ovca slična ostalim mediteranskim mliječnim pasminama ovaca. Dobivene genotipske frekvencije β-laktoglobulinskog lokusa (AA=0.185, AB=0.588 i BB=0.226) pokazale su signifikantno odstupanje od očekivanog Hardy-Weinbergove ravnoteže. U 12 različitih istraživanja koja se odnose na mediteranske mliječne pasmine ovaca, signifikantno odstupanje primijećeno je još samo u pasmine Valle del Belice. Međutim, samo u četiri istraživanja (obuhvaćajući i istraživanje autora) veličina uzorka bila je dovoljna za detekciju istog odstupanja od Hardy-Weinbergove ravnoteže. Superiornost AB genotipa β-laktoglobulina za proizvodnju mlijeka mogući je uzrok veće prisutnosti heterozigote te intermedijarne frekvencije alela

The Impact of Cytoplasmic Inheritance on Sperm Quality in Fleckvieh Bulls

Detrimental impact of certain mitogenome mutations on sperm quality traits, and consequently on male fertility is well documented in humans. With a quantitative genetic mixed model, we analysed the impact of cytoplasmic effects, maternal lineages treated as random effect, on sperm quality traits in 554 Austrian Fleckvieh bulls. We have observed that 2% of the phenotypic variance for transformed total number of spermatozoa is due to cytoplasmic (maternal lineage) effects. Regarding percent of viable live spermatozoa, no cytoplasmic effects were detected. However, the observed effects still need to be further evaluated from three perspectives, the analysis of the mitogenome polymorphism effects and the impact of the mitogenome effects on the realised fertility as well as on the whole production economically

The Impact of Cytoplasmic Inheritance on Sperm Quality in Fleckvieh Bulls

Detrimental impact of certain mitogenome mutations on sperm quality traits, and consequently on male fertility is well documented in humans. With a quantitative genetic mixed model, we analysed the impact of cytoplasmic effects, maternal lineages treated as random effect, on sperm quality traits in 554 Austrian Fleckvieh bulls. We have observed that 2% of the phenotypic variance for transformed total number of spermatozoa is due to cytoplasmic (maternal lineage) effects. Regarding percent of viable live spermatozoa, no cytoplasmic effects were detected. However, the observed effects still need to be further evaluated from three perspectives, the analysis of the mitogenome polymorphism effects and the impact of the mitogenome effects on the realised fertility as well as on the whole production economically

Genomic characterization of the three Balkan Livestock Guardian Dogs

Balkan Livestock Guardian Dogs (LGD) were bred to help protect sheep flocks in sparsely populated, remote mountainous areas in the Balkans. The aim of this study was genomic characterization (107,403 autosomal SNPs) of the three LGD breeds from the Balkans (Karst Shepherd, Sharplanina Dog, and Tornjak). Our analyses were performed on 44 dogs representing three Balkan LGD breeds, as well as on 79 publicly available genotypes representing eight other LGD breeds, 70 individuals representing seven popular breeds, and 18 gray wolves. The results of multivariate, phylogenetic, clustering (STRUCTURE), and FST differentiation analyses showed that the three Balkan LGD breeds are genetically distinct populations. While the Sharplanina Dog and Tornjak are closely related to other LGD breeds, the Karst Shepherd is a slightly genetically distinct population with estimated influence from German Shepard (Treemix analysis). Estimated genomic diversity was high with low inbreeding in Sharplanina Dog (Ho = 0.315, He = 0.315, and FROH>2Mb = 0.020) and Tornjak (Ho = 0.301, He = 0.301, and FROH>2Mb = 0.033) breeds. Low diversity and high inbreeding were estimated in Karst Shepherds (Ho = 0.241, He = 0.222, and FROH>2Mb = 0.087), indicating the need for proper diversity management. The obtained results will help in the conservation management of Balkan LGD dogs as an essential part of the specific grazing biocultural system and its sustainable maintenance

Polimorfizam κ-kazeina talijanskih pasmina koza: novi ACRS-PCR test za razlikovanje A i B alela

The objective of this study was to develop a DNA test for rapid characterisation of goat κ-casein (κ-CN) A and B variants and to study this polymorphism in Italian goat breeds. Genetic polymorphism of κ-CN gene was, in addition to isoelectric focusing, analysed according to a new technique designated as amplification created restriction site. Two alleles that differ in one nucleotide mutation (G Ø A) in exon 4 were characterised. The 167-bp PCR product surrounding the nucleotide mutation was amplified from genomic DNA and the PCR product was digested with MaeIII. After digestion the A allele gives three fragments of 77, 65 and 25 bp in comparison with the B allele which gives two fragments of 90 and 77 bp. The analysis of allele frequency distribution at κ-CN locus, based on 401 individual samples, revealed significant differences among three goat breeds from the north of Italy (Nera di Verzasca, Frontalasca and Alpine) with frequency of κ-CN B allele around 0.3, versus two goat breeds from the south of Italy (Maltese and Sarda) with frequency of κ-CN B allele around 0.5. While two goat breeds (Maltese and Nera di Verzasca) did not show significant deviations from the Hardy-Weinberg equilibrium, a highly significant excess of heterozygote genotype (AB) was observed in Alpine, Frontalasca and Sarda goats. Here the developed DNA method and observed relatively high frequency of κ-CN B allele give a prerequisite for the assessment of research related to the simultaneous estimation of the effects of composite αs1/κ-CN genotypes on milk production and cheese-making properties.Svrha je bila razviti DNA test za brzo određivanje genetičkih varijanti κ-kazeina u talijanskih pasmina koza. Genetički je polimorfizam istraživan izoelektričnim fokusiranjem (IEF) i amplifikacijom nastalim restrikcijskim mjestom na genomu (ACRS). PCR produkt na ekzonu 4, dug 167-bp koji okružuje nukleotidnu mutaciju (G Ø A), amplificiran s genomske DNA i razgrađen je s MaeIII enzimom. Identificirana su dva alela koja se razlikuju u jednoj nukleotidnoj mutaciji (G Ø A). Dobiveni su fragmenti 77 i 65 bp za alel A te 90 i 77 bp za alel B. Signifikantna razlika za frekvenciju alela B ustanovljena je za tri pasmine koza sa sjevera Italije (Nera di Verzasca, Frontalasca i Alpine) s frekvencijom κ-kazeina B oko 0,3, u usporedbi s dvjema pasminama s juga Italije (Maltese i Sarda), s frekvencijom κ-kazeina B otprilike 0,5. Pasmine Maltese i Nera di Verzasca nisu pokazale signifikantno odstupanje od Hardy-Weinbergove ravnoteže, za razliku od pasmina Alpine, Frontalasca i Sarda u kojima je uočeno veliko signifikantno odstupanje. Prikazana DNA metoda i promatrana relativno velika frekvencija κ-kazeina B alela omogućavaju daljnja istraživanja zajedničkog utjecaja αs1-kazeina i κ-kazeina na proizvodnju mlijeka i sira

Two detrimental mutations in cattle mitogenome indicate the presence of Leber's hereditary optic neuropathy

While mitochondriopathies, mitochondrial diseases, caused by mutations in mitochondrial DNA (mtDNA), are well documented in humans, single pathogenic mtDNA mutation or disorders are unknown in livestock populations. In a survey of 799 complete cattle mtDNAs belonging to more than 120 breeds two mutations, one in ND1 (C4171T) and the other in ND4L (T10663C) gene were identified, that are confirmed to be pathogenic in humans causing Leber's hereditary optic neuropathy (LHON). In one Cika cow with T10663C mutation, which was in humans reported to cause an acute onset of visual loss or/and many other LHON associated clinical manifestations, an exophthalmia of the right eye that might fit to the pathogenesis of LHON was observed. This work supports the existence of potentially detrimental mtDNA mutations in cattle, while aetiology and pathogenesis need to be further documented

Genetski polimorfizam β-laktoglobulina u paške ovce

Milk samples from 248 Pag ewes, belonging to 14 different flocks and located through the Pag Island (Croatia), were analyzed by isoelectrofocusing and PCR-RFLP. Two genetic variants (A and B) and three genotypes (AA, AB and BB) of β-lactoglobulin have been identified. According to the allele frequency (A=0.48, B=0.52) and occurrence of genetic variants, the Pag breed is similar to other Mediterranean dairy sheep breeds. The observed genotype frequencies at the β-lactoglobulin locus (AA=0.185, AB=0.589 and BB=0.226) were significantly different from those expected from Hardy-Weinberg equilibrium. In comparison with 12 different studies related to Mediterranean dairy sheep populations, the significant departure from Hardy-Weinberg was also obtained in Valle del Belice sheep. However, the sample size required for detection of the same amount of departure from the Hardy-Weinberg as it was observed in Pag sheep was only sufficient in four studies (including Pag sheep). The superiority of the AB β-lactoglobulin genotype for milk production could be one of possible reasons for the observed excess of heterozygotes and allele frequencies at intermediate level.Uzorci mlijeka od 248 paških ovaca iz 14 različitih stada lociranih po cijelom otoku Pagu analizirani su tehnikama izoelektričnog fokusiranja i PCR-RFLP. Identificirane su dvije genetske varijante (A i B) i tri genotipa (AA, AB i BB) β-laktoglobulina. Po frekvenciji alela (A=0.48, B=0.52) i prisutnosti genetskih varijanti paška je ovca slična ostalim mediteranskim mliječnim pasminama ovaca. Dobivene genotipske frekvencije β-laktoglobulinskog lokusa (AA=0.185, AB=0.588 i BB=0.226) pokazale su signifikantno odstupanje od očekivanog Hardy-Weinbergove ravnoteže. U 12 različitih istraživanja koja se odnose na mediteranske mliječne pasmine ovaca, signifikantno odstupanje primijećeno je još samo u pasmine Valle del Belice. Međutim, samo u četiri istraživanja (obuhvaćajući i istraživanje autora) veličina uzorka bila je dovoljna za detekciju istog odstupanja od Hardy-Weinbergove ravnoteže. Superiornost AB genotipa β-laktoglobulina za proizvodnju mlijeka mogući je uzrok veće prisutnosti heterozigote te intermedijarne frekvencije alela