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ABSTRACT Background Risk factors of refracture after fragility fractures include osteoporosis, female gender and advanced age among others. We hypothesized that the assessment of functionality, muscle health and nutrition status contribute to the risk prediction for further fractures and death. Methods We assessed 334 patients admitted to the department of acute geriatrics for sociodemographic data, bone fragility, selected laboratory tests, body composition and data on functionality using the comprehensive geriatric assessment. Patients had follow‐ups until the occurrence of further fractures or death. Dual‐energy X‐ray absorptiometry and pulse echo measurements were performed to assess bone mineral density. Fracture risk was assessed using the FRAX score and muscle strength according to published guidelines on sarcopenia. Results The mean age was 81 years (70–95), and 82.3% (275/334) were women. An incidence of 10.4% (35/334) new fragility fractures was observed within 24 months, and the mortality rate was 12.2% (41/334). A significantly higher rate of further fractures was associated with lower BMI (body mass index) (HR 0.925, CI 0.872–0.98; p = 0.009), lower parathyroid hormone levels (HR 0.986, CI 0.973–0.998; p = 0.026) and with the diagnosis of osteoporosis (HR 2.546, CI 1.192–5.438; p = 0.016). No significant associations were present in patients with previous fractures, with higher age, higher FRAX scores, sarcopenia, in women, sarcopenic obesity, frail patients, lower grip strength, lower walking speed, lower Barthel index or lower DI (density index) values. The predictive power for further fractures was 10.7% higher adding osteosarcopenia, BMI and parathyroid hormone levels to standard assessment parameters osteoporosis, age and the status of previous fractures. Mortality was significantly higher with advanced age (HR 1.101, CI 1.052–1.151; p

Mastitis is a serious challenge for the dairy industry, leading to economic losses and affecting milk quality. The aim of this study is to identify genetic factors associated with mastitis resistance by conducting a genome-wide association study (GWAS) for the somatic cell score (SCS). Phenotypic records of 350 Holstein Friesian cows were obtained from the Slovenian Cattle Recording Scheme Database and consisted of around 1500 lactation data from 2012 to 2023 collected on a single farm in Slovenia. Corresponding genotypic data were also retrieved from the same database and genotyped using the Illumina BovineSNP50 BeadChip (Illumina, Inc., San Diego, CA, USA). For the association study, three SCS parameters were considered, including lactation mean somatic cell score (LM_SCS), maximum SCS value (SCSMAX), and top three mean value of SCS (TOP3). After performing a GWAS using FarmCPU and BLINK models, five significant SNPs associated with the TOP3 trait were found on BTA 14, 15, 22, and 29. The identified SNP markers were closely linked to six known candidate genes (DNASE1L3, SLC36A4, ARMC1, PDE7A, MMP13, CD44). These results indicate potential genetic markers associated with SCS in the Slovenian Holstein Friesian population.

Adipogeneza je kompleksen proces, na katerega vpliva veliko število genetskih in okoljskih faktorjev. Ker je posledica prekomernega nalaganja maščob debelost, pogosto pa tudi pojav diabetesa tipa 2, postaja proučevanje molekulskih osnov adipogeneze vse bolj pomembno tudi z vidika zdravja človeka. V živalski proizvodnji proces tvorbe maščobnega tkiva pomembno vpliva na kakovost prirasta, preko porabe krme pa na ekonomičnost proizvodnje. Poleg leptina in leptinskega receptorja, ki odločilno uravnavata nalaganje maščob, je bil v zadnjem času odkrit tudi mehanizem uravnavanja tvorbe maščobnega tkiva, ki vključuje adaptivno termogenezo in biosintezo mitohondrijev. Pomembna regulatorja teh procesov sta PPARg in njegov koaktivator PGC-1a. V pričujočem prispevku opisujemo mehanizem uravnavanja adipogeneze in vlogo PPARg in PGC-1a v njem. Prikazana je tudi medvrstna primerjava aminokislinskih zaporedij PGC-1a in možnosti za razvoj farmacevtskih učinkovin, ki bi vplivale na izražanje PGC-1a.

Abstract Background The importance of local breeds as genetic reservoirs of valuable genetic variation is well established. Pig breeding in Central and South-Eastern Europe has a long tradition that led to the formation of several local pig breeds. In the present study, genetic diversity parameters were analysed in six autochthonous pig breeds from Slovenia, Croatia and Serbia (Banija spotted, Black Slavonian, Turopolje pig, Swallow-bellied Mangalitsa, Moravka and Krskopolje pig). Animals from each of these breeds were genotyped using microsatellites and single nucleotide polymorphisms (SNPs). The results obtained with these two marker systems and those based on pedigree data were compared. In addition, we estimated inbreeding levels based on the distribution of runs of homozygosity (ROH) and identified genomic regions under selection pressure using ROH islands and the integrated haplotype score (iHS). Results The lowest heterozygosity values calculated from microsatellite and SNP data were observed in the Turopolje pig. The observed heterozygosity was higher than the expected heterozygosity in the Black Slavonian, Moravka and Turopolje pig. Both types of markers allowed us to distinguish clusters of individuals belonging to each breed. The analysis of admixture between breeds revealed potential gene flow between the Mangalitsa and Moravka, and between the Mangalitsa and Black Slavonian, but no introgression events were detected in the Banija spotted and Turopolje pig. The distribution of ROH across the genome was not uniform. Analysis of the ROH islands identified genomic regions with an extremely high frequency of shared ROH within the Swallow-bellied Mangalitsa, which harboured genes associated with cholesterol biosynthesis, fatty acid metabolism and daily weight gain. The iHS approach to detect signatures of selection revealed candidate regions containing genes with potential roles in reproduction traits and disease resistance. Conclusions Based on the estimation of population parameters obtained from three data sets, we showed the existence of relationships among the six pig breeds analysed here. Analysis of the distribution of ROH allowed us to estimate the level of inbreeding and the extent of homozygous regions in these breeds. The iHS analysis revealed genomic regions potentially associated with phenotypic traits and allowed the detection of genomic regions under selection pressure.

Abstract The contribution of domestic cattle in human societies is enormous, making cattle, along with other essential benefits, the economically most important domestic animal in the world today. To expand existing knowledge on cattle domestication and mitogenome diversity, we performed a comprehensive complete mitogenome analysis of the species (802 sequences, 114 breeds). A large sample was collected in South‐east Europe, an important agricultural gateway to Europe during Neolithization and a region rich in cattle biodiversity. We found 1725 polymorphic sites (810 singletons, 853 parsimony‐informative sites and 57 indels), 701 unique haplotypes, a haplotype diversity of 0.9995 and a nucleotide diversity of 0.0015. In addition to the dominant T3 and several rare haplogroups (Q, T5, T4, T2 and T1), we have identified maternal line in Austrian Murbodner cattle that possess surviving aurochs’ mitochondria haplotype P1 that diverged prior to the Neolithization process. This is convincing evidence for rare female‐mediated adaptive introgression of wild aurochs into domesticated cattle in Europe. We revalidated the existing haplogroup classification and provided Bayesian phylogenetic inference with a more precise estimated divergence time than previously available. Occasionally, classification based on partial mitogenomes was not reliable; for example, some individuals with haplogroups P and T5 were not recognized based on D‐loop information. Bayesian skyline plot estimates (median) show that the earliest population growth began before domestication in cattle with haplogroup T2, followed by Q (~10.0–9.5 kyBP), whereas cattle with T3 (~7.5 kyBP) and T1 (~3.0–2.5 kyBP) expanded later. Overall, our results support the existence of interactions between aurochs and cattle during domestication and dispersal of cattle in the past, contribute to the conservation of maternal cattle diversity and enable functional analyses of the surviving aurochs P1 mitogenome.

Gene- burden analyses have lately become a very successful way for the identification of genes carrying risk variants underlying the analysed disease. This approach is also suitable for complex disorders like autism spectrum disorder (ASD). The gene-burden analysis using Testing Rare Variants with Public Data (TRAPD) software was conducted on whole exome sequencing data of Slovenian patients with ASD to determine potentially novel disease risk variants in known ASD-associated genes as well as in others. To choose the right control group for testing, principal component analysis based on the 1000 Genomes and ASD cohort samples was conducted. The subsequent protein structure and ligand binding analysis usingI-TASSER package were performed to detect changes in protein structure and ligand binding to determine a potential pathogenic consequence of observed mutation. The obtained results demonstrate an association of two variants-p.Glu198Lys (PPP2R5D:c.592G>A) and p.Arg253Gln (PPP2R5D:c.758G>A) with the ASD. Substitution p.Glu198Lys (PPP2R5D:c.592G>A) is a variant, previously described as pathogenic in association with ASD combined with intellectual disability, whereas p.Arg253Gln (PPP2R5D:c.758G>A) has not been described as an ASD-associated pathogenic variant yet. The results indicate that the filtering process was suitable and could be used in the future for detection of novel pathogenic variants when analysing groups of ASD patients.

Abstrakt Hintergrund Eine grauenhafte infektion wurde bei einer patientin mit fortgeschrittenem lungentumor und malnutrition gefunden. Bisher wurden weltweit erst 13 fälle mit einer Wohlfahrtiimonas chitiniclastica—bakteriämie beschrieben. Fallbericht Dieser erste Fall in Österreich manifestierte sich ohne eine infestation mit maden. Konklusion Dieses bakterium ist ein neuer krankheitserreger der nicht nur bei patienten unter mangelnder hygienebedingungen, schwierigen sozialen verhältnissen, alkoholabhängigkeit oder chronischen wunden auftreten kann. Es muss in die differentialdiagnostik immunkompromittierter patienten mit pneumonie miteinbezogen werden.

Abstract Background Local breeds retained unique genetic variability important for adaptive potential especially in light of challenges related to climate change. Our first objective was to perform, for the first time, a genome-wide diversity characterization using Illumina GoatSNP50 BeadChip of autochthonous Drežnica goat breed from Slovenia, and five and one local breeds from neighboring Austria and Italy, respectively. For optimal conservation and breeding programs of endangered local breeds, it is important to detect past admixture events and strive for preservation of purebred representatives of each breed with low or without admixture. In the second objective, we hence investigated the effect of inclusion or exclusion of outliers from datasets on genetic diversity and population structure parameters. Results Distinct genetic origin of the Drežnica goat was demonstrated as having closest nodes to Austrian and Italian breeds. A phylogenetic study of these breeds with other goat breeds having SNP data available in the DRYAD repository positioned them in the alpine, European and global context. Swiss breeds clustered with cosmopolitan alpine breeds and were closer to French and Spanish breeds. On the other hand, the Drežnica goat, Austrian and Italian breeds were closer to Turkish breeds. Datasets where outliers were excluded affected estimates of genetic diversity parameters within the breed and increased the pairwise genetic distances between most of the breeds. Alpine breeds, including Drežnica, Austrian and Italian goats analyzed here, still exhibit relatively high levels of genetic variability, homogeneous genetic structure and strong geographical partitioning. Conclusions Genetic diversity analyses revealed that the Slovenian Drežnica goat has a distinct genetic identity and is closely related to the neighboring Austrian and Italian alpine breeds. These results expand our knowledge on phylogeny of goat breeds from easternmost part of the European Alps. The here employed outlier test and datasets optimization approaches provided an objective and statistically powerful tool for removal of admixed outliers. Importance of this test in selecting the representatives of each breed is warranted to obtain more objective diversity parameters and phylogenetic analysis. Such parameters are often the basis of breeding and management programs and are therefore important for preserving genetic variability and uniqueness of local rare breeds.

Autism spectrum disorders (ASD) represent a phenotypically heterogeneous group of patients that strongly intertwine with other neurodevelopmental disorders (NDDs), with genetics playing a significant role in their etiology. Whole exome sequencing (WES) has become predominant in molecular diagnostics for ASD by considerably increasing the diagnostic yield. However, the proportion of undiagnosed patients still remains high due to complex clinical presentation, reduced penetrance, and lack of segregation analysis or clinical information. Thus, reverse phenotyping, where we first identified a possible genetic cause and then determine its clinical relevance, has been shown to be a more efficient approach. WES was performed on 147 Slovenian pediatric patients with suspected ASD. Data analysis was focused on identifying ultrarare or “single event” variants in ASD-associated genes and further expanded to NDD-associated genes. Protein function and gene prioritization were performed on detected clinically relevant variants to determine their role in ASD etiology and phenotype. Reverse phenotyping revealed a pathogenic or likely pathogenic variant in ASD-associated genes in 20.4% of patients, with subsequent segregation analysis indicating that 14 were de novo variants and 1 was presumed compound heterozygous. The diagnostic yield was further increased by 2.7% by the analysis of ultrarare or “single event” variants in all NDD-associated genes. Protein function analysis established that genes in which variants of unknown significance (VUS) were detected were predominantly the cause of intellectual disability (ID), and in most cases, features of ASD as well. Using such an approach, variants in rarely described ASD-associated genes, such as SIN3B, NR4A2, and GRIA1, were detected. By expanding the analysis to include functionally similar NDD genes, variants in KCNK9, GNE, and other genes were identified. These would probably have been missed by classic genotype–phenotype analysis. Our study thus demonstrates that in patients with ASD, analysis of ultrarare or “single event” variants obtained using WES with the inclusion of functionally similar genes and reverse phenotyping obtained a higher diagnostic yield despite limited clinical data. The present study also demonstrates that most of the causative genes in our cohort were involved in the syndromic form of ASD and confirms their comorbidity with other developmental disorders.

The reference genome sequence represents a key resource for genetic studies of the target species. In 2009, two reference assemblies of the cattle (Bos taurus) genome, were published (Btau 4.0 and UMD 2.0). Both assemblies were upgraded several times since then. Highly polymorphic major histocompatibility complex (MHC) encodes proteins crucial for immune recognition and regulation of immune response in vertebrates. It is characterised by extensive nucleotide diversity, copy number variation of paralogous genes, and long repetitive sequences. In cattle, MHC is designated as BoLA (bovine leucocyte antigen), located on the chromosome 23. Its organisation differs from typical mammalian MHCs. The structural complexity makes it difficult to assemble a reliable reference sequence of this genomic region. Therefore, this region represents a good genomic model region to compare the accuracy of different assembly strategies. Recent advances in long-read sequence technology, combined with new scaffolding technologies, enabled issuing of the new bovine reference genome assembly build ARS-UCD 1.2, which is significantly improved over previous bovine genome assembly releases. In the current study the software tool Mauve for multiple alignment of conserved genomic sequences with rearrangements was used to identify the differences of genomic organization in the BoLA region assembled in three bovine reference genomes, Btau 5.0.1, UMD 3.1.1, and ARS-UCD 1.2. Multiple alignment of the bovine chromosome 23 sequences extracted from three genome assemblies revealed differences in the structure of the BoLA region. Segments encoding genes BOLA-DMA and BOLA-DQB are rearranged and inverted in the new assembly relative to the previous builds.

Abstract Background Tibetan Terrier is a popular medium-sized companion dog breed. According to the history of the breed, the western population of Tibetan Terriers includes two lineages, Lamleh and Luneville. These two lineages derive from a small number of founder animals from the native Tibetan Terrier population, which were brought to Europe in the 1920s. For almost a century, the western population of Tibetan Terriers and the native population in Tibet were reproductively isolated. In this study, we analysed the structure of the western population of Tibetan Terriers, the original native population from Tibet and of different crosses between these two populations. We also examined the genetic relationships of Tibetan Terriers with other dog breeds, especially terriers and some Asian breeds, and the within-breed structure of both Tibetan Terrier populations. Results Our analyses were based on high-density single nucleotide polymorphism (SNP) array (Illumina HD Canine 170 K) and microsatellite (18 loci) genotypes of 64 Tibetan Terriers belonging to different populations and lineages. For the comparative analysis, we used 348 publicly available SNP array genotypes of dogs from other breeds. We found that the western population of Tibetan Terriers and the native Tibetan Terriers clustered together with other Asian dog breeds, whereas all other terrier breeds were grouped into a separate group. We were also able to differentiate the western Tibetan Terrier lineages (Lamleh and Luneville) from the native Tibetan Terrier population. Conclusions Our results reveal the relationships between the western and native populations of Tibetan Terriers and support the hypothesis that Tibetan Terrier belongs to the group of ancient dog breeds of Asian origin, which are close to the ancestors of the modern dog that were involved in the early domestication process. Thus, we were able to reject the initial hypothesis that Tibetan Terriers belong to the group of terrier breeds. The existence of this native population of Tibetan Terriers at its original location represents an exceptional and valuable genetic resource.

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.

ABSTRACT A selection of commercially available antibodies, targeted against markers employed in studies of mammary gland biology, was tested to determine their reactivity in goat mammary tissue and the derived tissue cultures. Expression of the markers smooth muscle actin ( SMA ), selected keratins ( KRT ) 5, 14, 18 , and 19 , CD24 molecule ( CD24 ), epithelial cell adhesion molecule ( EPCAM ), mucin 1 ( MUC1 ), integrin subunit alpha 6 ( ITGA6; CD49F ), integrin subunit beta 1 ( ITGB1; CD29 ), cyclin dependent kinase inhibitor 1A ( CDKN1A; p21 ), membrane metalloendopeptidase ( MME; CD10 ), progesterone receptor ( PGR ), estrogen receptor 1 ( ESR1 ), and vimentin ( VIM ) was first assessed on mRNA level, using reverse transcription PCR (RT-PCR). The reactivity of the antibodies in the tissue sections and the derived tissue cultures was determined using immunofluorescence. The result of this study is a list of commercially available antibodies, raised mostly against human antigens, which also recognize orthologous goat antigens and are useful for characterization of different mammary cell types. Additionally, primers that are functional in detecting expression of mammary lineage markers in goat mammary mRNA isolates were validated. The suggested antibodies, PCR primers, and the described methods are of practical value for researchers interested in characterization and isolation of cell types comprising mammary tissue of goats and probably other ruminants.

The current demographic shift raises the demand for provision of health care tailored to the complex care needs for older adults. Given the growing number of national care plans and best practice models there is an urgent need to build evidence for inter- and multiprofessional care provision for older people when offered an integrated care approach. The aim of this study was to determine whether an inter-professional or multi-professional care intervention, can improve geriatric patients’ health determinants. A systematic review was performed according to PRISMA Guidelines. Databases were searched for clinical trials which compare inter-professional or multi-professional complex care interventions with usual care among people aged ≥60 years, in hospital or emergency care settings. Based on nine studies, inter-professional or multi-professional intervention has no impact on mortality rate but either positive or neutral effects on physical health, psychosocial wellbeing and utilization of health care service. It shows that these inter-professional or multi-professional interventions were feasible. This systematic review highlights the scarcity of evidence showing either positive or neutral impact of intervention based on inter-professional or multi-professional teamwork across care settings on the health determinants among geriatric patients. International harmonization of assessment tools may allow direct comparisons for future interventions.

Mitochondrial transcription factor A plays, due to its role in replication and transcription of the mitochondrial DNA, an important role in mitochondrial biogenesis and regulation of its activity. In different mammalian species, mitochondrial transcription factor A is present in two different splicing forms. The aim of the study was to verify the presence of both splicing forms and to estimate their ratio in different tissues. The expression levels of both splicing forms in two skeletal muscles (m. semispinalis capitis and m. semimembranosus), heart muscle, brain, spleen, and liver in commercial hybrids and in the autochthonous Krsko polje pig breed are reported. In all analyzed tissues the expression of the long form of the mitochondrial transcription factor A was about one order of magnitude higher compared to the short form, lacking almost the entire exon 4 region. Taking into account the expression ratio of both splicing forms and biological function of the mitochondrial transcription factor A, the possible explanation for the persistence of both forms in different mammalian species is provided.

Istrian goat is an autochthonous Croatian breed which inhabited Istrian peninsula and was important in milk production and human nutrition, especially for poor people. For centuries Istrian goat was a recognizable heraldic symbol of Istria, but in her real form almost disappeared from the breeding area. The revitalization and reaffirmation of Istrian goat began with several dozen remaining breeding animals, after a decade-long breeding ban. Genetic characterization of the Istrian goat population is necessary for providing insight into the state of genetically preserved structure within population as well as positioning Istrian goats within phylogenetically related breeds. Microsatellite and mtDNA analysis of reproductive individuals of Istrian goat and related breeds, Croatian White goat and Saanen goat was carried out. In the population of Istrian goat, higher allelic variability (nA = 9.7; AR = 7.4) were found as well as significant genetic distance (FST = 0.068 - 0.086) in relation to other two breeds. Such results indicated that Istrian goat constitutes a separate genetic identity. The observed ten haplotype sequences of the D-loop mtDNA also confirm the significant genetic richness of the maternal hereditary component. The observed haplotypes in the population of Istrian goat belong to lineage A. A smaller number of haplotypes shows similarity to the group of “white” goats, indicating traces of earlier limited but targeted crossing of Istrian goats. The genetic profile analysis of Istrian goats indicates a high level of genetic variability and provides guidelines for a long-term conservation program. The preserved genetic and promising potential of milk production of Istrian goat makes a significant basis for her economic reaffirmation. Orientation of the breed towards milk production could be an efficient strategy for its effective preservation.

Abstract Background Pigs were domesticated independently in Eastern and Western Eurasia early during the agricultural revolution, and have since been transported and traded across the globe. Here, we present a worldwide survey on 60K genome-wide single nucleotide polymorphism (SNP) data for 2093 pigs, including 1839 domestic pigs representing 122 local and commercial breeds, 215 wild boars, and 39 out-group suids, from Asia, Europe, America, Oceania and Africa. The aim of this study was to infer global patterns in pig domestication and diversity related to demography, migration, and selection. Results A deep phylogeographic division reflects the dichotomy between early domestication centers. In the core Eastern and Western domestication regions, Chinese pigs show differentiation between breeds due to geographic isolation, whereas this is less pronounced in European pigs. The inferred European origin of pigs in the Americas, Africa, and Australia reflects European expansion during the sixteenth to nineteenth centuries. Human-mediated introgression, which is due, in particular, to importing Chinese pigs into the UK during the eighteenth and nineteenth centuries, played an important role in the formation of modern pig breeds. Inbreeding levels vary markedly between populations, from almost no runs of homozygosity (ROH) in a number of Asian wild boar populations, to up to 20% of the genome covered by ROH in a number of Southern European breeds. Commercial populations show moderate ROH statistics. For domesticated pigs and wild boars in Asia and Europe, we identified highly differentiated loci that include candidate genes related to muscle and body development, central nervous system, reproduction, and energy balance, which are putatively under artificial selection. Conclusions Key events related to domestication, dispersal, and mixing of pigs from different regions are reflected in the 60K SNP data, including the globalization that has recently become full circle since Chinese pig breeders in the past decades started selecting Western breeds to improve local Chinese pigs. Furthermore, signatures of ongoing and past selection, acting at different times and on different genetic backgrounds, enhance our insight in the mechanism of domestication and selection. The global diversity statistics presented here highlight concerns for maintaining agrodiversity, but also provide a necessary framework for directing genetic conservation.

Pathogens invading the mammary gland are recognized through a range of pattern recognition receptors (PRRs), residing on the plasma membrane of mammary epithelial cells. Toll-like receptor 2 (TLR2) signalling is responsible for recognition of Gram-positive bacteria, which are the most common mastitis-causing pathogens in goats. Somatic cell counts (SCC) in milk are routinely determined in goat dairy flocks and serve as an indicator of milk quality, which is highly correlated to intramammary infections. Recently, a single nucleotide polymorphism of the TLR2 was suggested to be associated with SCC in goat milk. To further test the suggested association, we genotyped 61 Slovenian Alpine goats included in the dataset. The effect of the genotype was analysed using the general linear model (GLM) procedure of SAS/STAT software. We found the TLR2 genotypes significantly (p = 0.0007) associated with milk SCC. Animals with the A/G genotype had significantly (p ≤ 0.05) lower SCC value in milk compared to the G/G genotype. Our data suggest that the A allele is the minor one and is associated with lower milk SCC. In the current study, we provide a validated PCR-RFLP based genotyping assay for the TLR2 SNP (rs650082970) and confirm its association with milk SCC. Further studies to confirm the association on a larger number of animals of different breeds and to explain functional consequences of the polymorphism in relation to SCC are encouraged.

Istrian shorthaired hound is an old indigenous Croatian dog breed with historical traces of its origin, which date back to the 14th century. Due to its intelligence and great hunting abilities, it is considered an excellent hunting dog. Despite its ancient origin, there is no data on genetic diversity, population structure, and degree of inbreeding that could be used for advanced management and conservation of this breed. Our study aimed to provide a high-resolution population structure of the Istrian shorthaired hound using a 220K HD SNP array, to compare the obtained data with the genealogical records and to place the breed in a broader context of world dog populations. Relatively high population size and low inbreeding coefficient estimated from genealogical data indicate a preserved genetic diversity in this breed. The principle component analysis, the NeighborNet network, and TreeMix were used to determine the genetic relationship between the Istrian shorthaired hound and other breeds. The Istrian shorthaired hound was found to be genetically related to Italian hunting dogs sharing the same branch with the Segugio Italiano a Pelo Raso and Segugio Italiano a Pelo Forte. The ADMIXTURE analysis indicated that the Istrian shorthaired hound could be involved in the development of some other hunting dog breeds. The estimated effective population size (Ne) based on SNP data was similar to Ne calculated from genealogical data indicating the absence of bottlenecks and well-balanced use of breeding animals. The low genomic inbreeding coefficient, together with the higher number of short runs of homozygosity, observed in the Istrian shorthaired hound, confirms the ancient origin of the breed based on historical documents. The analysis of selective sweeps identified genomic regions with the strongest selection signals in the vicinity of the genes associated with cognitive performance and behavior. Genome analysis proved to be a useful tool for estimating population parameters and can be implemented in the conservation plan for this indigenous breed.

An amendment to this paper has been published and can be accessed via the original article.

Background: Cryptorchidism is one of the most frequent congenital birth defects in male children and is present in 2–4% of full-term male births. It has several possible health effects including reduced fertility, increased risk for testicular neoplasia, testicular torsion, and psychological consequences. Cryptorchidism is often diagnosed as comorbid; copresent with other diseases. It is also present in clinical picture of several syndromes. However, this field has not been systematically studied. The aim of the present study was to catalog published cases of syndromes which include cryptorchidism in the clinical picture and associated genomic information.Methods: The literature was extracted from Public/Publisher MEDLINE and Web of Science databases, using the keywords including: syndrome, cryptorchidism, undescended testes, loci, and gene. The obtained data was organized in a table according to the previously proposed standardized data format. The results of the study were visually represented using Gephi and karyotype view.Results: Fifty publications had sufficient data for analysis. Literature analysis resulted in 60 genomic loci, associated with 44 syndromes that have cryptorchidism in clinical picture. Genomic loci included 38 protein-coding genes and 22 structural variations containing microdeletions and microduplications. Loci, associated with syndromic cryptorchidism are located on 16 chromosomes. Visualization of retrieved data is presented in a gene-disease network.Conclusions: The study is ongoing and further studies will be needed to develop a complete catalog with the data from upcoming publications. Additional studies will also be needed for revealing of molecular mechanisms associated with syndromic cryptorchidism and revealing complete diseasome network.

The rationale, the concept and key challenges of the H2020 project TREASURE dealing with local pig breeds is presented and discussed. The action addresses the phenotypic and genetic characterization, performance of local pig breeds in diverse production systems and their environmental impact, specific quality of their products and market potential. The goal is to build up the capacities to develop sustainable pork chains based on local pig breeds. A special emphasis is given to describe the workplan for Black Slavonian and Turopolje local pig breeds from Croatia and Slovenian Krškopolje pig.

Mitochondrial transcription factor A (TFAM) is a nuclear-encoded mitochondrial protein that plays an important role in energy metabolism and is a candidate gene for fat deposition in cattle and human. In the present study, we characterized the methylation status of bovine TFAM promoter flanking the single nucleotide polymorphism (SNP) rs42159487C>T, previously reported to affect fat deposition. Our results showed that the cytosine at this SNP position is methylated and therefore results in gain/loss of the functional CpG locus (5mC>T). Promoter constructs developed based on three TFAM SNPs showed that the C/C/C haplotype associated with fat deposition in beef cattle had lower promoter function/activity than A/T/T haplotype. Our results imply that genetic variability underlying gain/loss of the CpG sites in the nuclear-encoded mitochondrial proteins might be good candidate loci for fat deposition phenotypes.

BLAD and CVM are Holstein-specific recessive mutations which have had significant economic impact on dairy cattle breeding worldwide. The aim of this study was to optimize a diagnostic test for detection of these two disorders and to obtain a preliminary picture about theire existence in Macedonian HF population. Blood samples were obtained from 84 HF cows from several different farms in Macedonia. Genomic DNA was extracted using DNeasy blood and tissue kit (Qiagen) which was also used for DNA extraction from deeply frozen sperm doses from 6 different HF bulls. Genotyping was performed by PCR-RFLP analysis with TaqI and HaeIII restriction endonucleases for BLAD and with PstI for CVM. The correctness of the genotyping was evaluated by direct sequencing of the amplified products. Among 90 HF cattle tested two cows were identified as carriers of the BLAD allele and one was carrier of the CVM allele. No bulls were found to be carriers of either of the two disorders.This study demonstrates that carriers of BLAD and CVM are present in Macedonia, although at low frequency. PCR followed by RFLP is efficient and inexpensive method for detection of the carriers and should be used as laboratory test in eradication programs. In order to establish a more accurate picture of the prevalence of these disorders, it is necessary to screen a larger number of animals. It is indispensable to test each bull before entering the A.I. program to prevent accidental transmission to a large number of offspring.

The genetic variability for a sample of 107 animals from three autochthonous Croatian horse breeds was estimated using 20 microsatellites. The average number of alleles per locus (6.3) and proportion of heterozygosity (0.732) indicated a moderate variability. The expected heterozygosity was similar among all breeds and ranged between 0.724 in the Posavina horse, and 0.737 in the Croatian Coldblood and Murinsulaner horse. The inbreeding coefficient FIS was low and non-significant over the three populations. The genetic differentiation among the three populations was low (FST=0.026), suggesting that only 2.6% of the total genetic variability was due to differences between the breeds, and 97% to individual differences. The results of pairwise genetic differentiation suggest that the Posavina horse and the Croatian Coldblood were the most closely related populations (FST=0.016). These results are confirmed by Nei’s genetic distances with the highest value observed between the Posavina horse and the Murinsulaner (0.082) and the lowest between the Posavina horse and the Croatian Coldblood (0.044). An assignment test correctly assigned 82% of individuals to the correct breed. Strategies for preserving the original native genes in the Croatian native horse breeds should be considered in order to prevent these breeds from becoming extinct and include them in the future breeding programmes.

Primary cell lines established from skin tissue can be used in immunological, proteomic and genomic studies as in vitro skin models. The goal of our study was to establish a primary keratinocyte cell culture from tissue biopsates of two horses. The primary keratinocyte cell culture was obtained by mechanical and enzymatic dissociation and with explant culture method. The result was a heterogeneous primary culture comprised of keratinocytes and fibroblasts. To distinguish epithelial and mesenchymal cells immunofluorescent characterisation was performed, using antibodies against cytokeratin 14 and vimentin. We successfully at attained a primary cell line of keratinocytes, which could potentially be used to study equine skin diseases, as an animal model for human diseases, and for cosmetic and therapeutic product testing.

The opinions and arguments, claiming that Anton Janša stayed in Carinthia from 1765 until his departure for Vienna in the year 1766, that he was a member of the Carinthian agricultural society and similar, are a novelty in the knowledge of the life and work of the first c. k. beekeeping teacher in Vienna. This statement was for the first time published in the book of Ehrenfels in 1829 and for the second time in the book of Heinrich in 1832. This notice was later reproduced in other works. The message of these publications is: Anton Janša was a Carinthian, he brought the Carinthian way of beekeeping to Vienna, he originates from the Carinthian agricultural society, which also recommended him in Vienna, so he was invited by the Empress Maria Theresia to Vienna and so on. Among Slovenian authors Perc (1925a,b) and Stabej (1955) drew attention to these records. Janša describes in his books and stresses his Carniolan origin, Carniolan way of beekeeping and Carniolan wooden hive and does not refer to his life and work in Carinthia. To confirm these records and publications on Anton Janša in Carinthia, it is necessary to find archival documents in provincial archive in Klagenfurt to confirm or to reject this hypothesis.

The aim of this work was to determine the MC1R genotype of Black Slavonian pigs and to find an efficient and simple PCR-RFLP method, based on differences in MC1R genotype, to distinguish between purebred Black Slavonian pigs and their crossings with commercial pig breeds and Wild Boars. Sequencing of the MC1R exon was performed to determine the genotype of MC1R in Black Slavonian pig breed, which was shown to be MC1R*2. Digestion reactions of both PCR products representing the majority of MC1R exon revealed presence of the BspHI restriction site at position 121 and absence of the AccII and CrfI restriction site at position 240, which is characteristic for the MC1R*2 genotype. A simple PCR-RFLP method, based on different coat colour MC1R gene genotypes was determined by which it is possible to detect potential crossings of autochthonous Black Slavonian pig with commercial pig breeds and also with Wild Boars.

The frequency of mammary neoplasia in different species varies tremendously. Among women, breast cancer features as one of the most frequent types of cancer globally. Breast cancer is the cause of almost half a million deaths worldwide each year. Of these deaths, more than 58 % are occurring in developing countries. Mammary tumors are rare in cows, mares, goats, ewes, and sows as evident by few cases reported in literature. In dairy cattle and milking goats the udders are inspected daily by palpation when milking and the tumors would be detected soon. The morphological features of bovine mammary gland are more similar to those in human than in rodents, the latter being commonly used for cancerogenic studies. There are several factors that might affect the high rate of tumor development in women and attenuate the development of tumors in ruminants. Besides diet, life style, reproductive history, stress load, the general physiology and metabolism might have an influence. Translational research using different mammary gland cell populations from several species may lead to comparative studies and may help reduce the risk and contribute to discovery of new therapeutic targets to treat breast cancer. In present work the zero occurrence of mammary gland tumors in ruminants will be reviewed focusing on literature records and mechanisms underlying the resistance.

MicroRNAs (miRNAs) are non-coding RNAs (ncRNAs) involved in regulation of gene expression. Intragenic miRNAs, especially those exhibiting a high degree of evolutionary conservation, have been shown to be coordinately regulated and/or expressed with their host genes, either with synergistic or antagonistic correlation patterns. However, the degree of cross-species conservation of miRNA/host gene co-location is not known and co-expression information is incomplete and fragmented among several studies. Using the genomic resources (miRBase and Ensembl) we performed a genome-wide in silico screening (GWISS) for miRNA/host gene pairs in three well-annotated vertebrate species: human, mouse, and chicken. Approximately half of currently annotated miRNA genes resided within host genes: 53.0% (849/1,600) in human, 48.8% (418/855) in mouse, and 42.0% (210/499) in chicken, which we present in a central publicly available Catalog of intragenic miRNAs (http://www.integratomics-time.com/miR-host/catalog). The miRNA genes resided within either protein-coding or ncRNA genes, which include long intergenic ncRNAs (lincRNAs) and small nucleolar RNAs (snoRNAs). Twenty-seven miRNA genes were found to be located within the same host genes in all three species and the data integration from literature and databases showed that most (26/27) have been found to be co-expressed. Particularly interesting are miRNA genes located within genes encoding for miRNA silencing machinery (DGCR8, DICER1, and SND1 in human and Cnot3, Gdcr8, Eif4e, Tnrc6b, and Xpo5 in mouse). We furthermore discuss a potential for phenotype misattribution of miRNA host gene polymorphism or gene modification studies due to possible collateral effects on miRNAs hosted within them. In conclusion, the catalog of intragenic miRNAs and identified 27 miRNA/host gene pairs with cross-species conserved co-location, co-expression, and potential co-regulation, provide excellent candidates for further functional annotation of intragenic miRNAs in health and disease.

The importance of pluripotent cells, which can differentiate in to different cell lineages and form an entire organism, is fundamental for understanding developmental biology including emerging diseases and offers potential for numerous applications in medicine and biotechnology. However, molecular mechanisms behind differentiation and de-differentiation (reprogramming) remain largely unknown. Until recently it was possible to obtain stem cells only from embryos in the early stages of development (embryonic stem cells – ESCs) or by using very inefficient and technically difficult method of somatic cell nuclear transfer (SCNT) that requires use of egg cells (oocytes). Both methods raised ethical concerns, especially when using human biological material. On the other hand, induced pluripotent stem cells (iPSCs) can be generated by direct reprogramming of differentiated adult somatic cells. iPSCs show similarities to ESCs and represent ethically acceptable and almost unlimited source of individuum-specific pluripotent cells. iPSCs are particularly important for development of regenerative medicine, disease modelling, drug development and testing, basic research, generation of transgenic animals, and for conservation of endangered species. However, before it is possible to exploit their potential in full, reprogramming processes should be investigated and understood in details and safe methods developed – that will enable production of genetically and epigenetically stable cells without tumorigenic potential. This article provides an overview of the field of iPSCs and addresses some of the latest achievements and applications of pluripotent cells in human and farm animals.

MicroRNAs (miRNAs) are a class of non-coding RNA that plays an important role in posttranscriptional regulation of mRNA. Evidence has shown that miRNA gene variability might interfere with its function resulting in phenotypic variation and disease susceptibility. A major role in miRNA target recognition is ascribed to complementarity with the miRNA seed region that can be affected by polymorphisms. In the present study, we developed an online tool for the detection of miRNA polymorphisms (miRNA SNiPer) in vertebrates (http://www.integratomics-time.com/miRNA-SNiPer) and generated a catalog of miRNA seed region polymorphisms (miR-seed-SNPs) consisting of 149 SNPs in six species. Although a majority of detected polymorphisms were due to point mutations, two consecutive nucleotide substitutions (double nucleotide polymorphisms, DNPs) were also identified in nine miRNAs. We determined that miR-SNPs are frequently located within the quantitative trait loci (QTL), chromosome fragile sites, and cancer susceptibility loci, indicating their potential role in the genetic control of various complex traits. To test this further, we performed an association analysis between the mmu-miR-717 seed SNP rs30372501, which is polymorphic in a large number of standard inbred strains, and all phenotypic traits in these strains deposited in the Mouse Phenome Database. Analysis showed a significant association between the mmu-miR-717 seed SNP and a diverse array of traits including behavior, blood-clinical chemistry, body weight size and growth, and immune system suggesting that seed SNPs can indeed have major pleiotropic effects. The bioinformatics analyses, data and tools developed in the present study can serve researchers as a starting point in testing more targeted hypotheses and designing experiments using optimal species or strains for further mechanistic studies.

In the nineteenth and early twentieth century the Medžimurje horse played an important role as a draft and working horse in the river Mura region. Nowadays, this area is split between Hungary, Austria, Slovenia and Croatia. In the frame of the project "Management of traditional transboundary breeds on example of a nearly forgotten breed the Murinsulaner", we collected data for cold blooded horses similar to the Medžimurje horse. Horses of this type do not exist in Austria anymore, in Croatia they were registered as an authothonous breed »Medjimurje horse«, and in Slovenia and Hungary this horse has a special section in the stud book for cold blooded horses as a Medžimurje type of horse. The Slovenian part of the population of the Medžimurje horse is quite heterogeneous regarding body measures. With respect to the scoring system used in the above mentioned project, the majority of scored animals were classified as »desired« or »satisfactory«. In order to further develop or to preserve this type of horse or to form a consolidated breed we would have to make a breeding program which would prevent mating among related animals and to cooperate with neighbouring countries in the field of breeding and selection. The only hope to preserve this type of horse on the long term in the region is by using it as a tourist attraction for carriage riding and/or as a draft horse in agriculture in marginal regions.

Demanding transcriptomic studies in combination with challenging experiments in livestock animal species could be replaced by good in vitro models mimicking the function of ruminant mammary gland. The objective of our study was to establish epithelial cell line obtained from primary cell culture of lactating goat mammary gland. Mammary tissue from lactating Saanen goat (Capra hircus) was digested in collagenase and hyaluronidase solution and plated on plastic flasks. When growing on plastic, typical cobblestone morphology of epithelial cells and larger irregularly shaped cells, corresponding to myoepithelial cells were observed. When growth medium was supplemented with lactogenic hormones (insulin, hydrocortisone, and prolactin) and cells were cultured on plastic for extended period of time at high density, dome-like structures appeared as a result of cell to cell contact induced differentiation. Immunofluorescence staining using antibodies against smooth muscle α-actin, vimentin and various cytokeratins were used to distinguish between different cell types. Cell types of epithelial and myoepithelial cells were confirmed. Complete differentiation of cells was achieved when growing them on a commercial basal membrane matrix preparation which contains laminin, collagen IV, and various growth factors. Cells grown on basal membrane matrix in growth medium supplemented with lactogenic hormones differentiated morphologically and functionally. Spherical structures that resembled the alveoli of lactating mammary gland were observed. Reverse transcription PCR (RT-PCR) was performed on the total RNA extracted from the cultured cells in order to detect the potentially present milk protein mRNAs.

Rodovniški podatki kontroliranih tropov so bistvenega pomena za rejce ovc in izvajanje selekcijskih programov. V tej študiji smo preverili, če je možno z osmimi molekularno genetskimi označevalci ter uporabo računalniškega programa ATLAS preveriti skladnost podatkov v več-generacijskih rodovnikih jezersko-solčavske in oplemenjene jezersko-solčavske pasme. Ugotovili smo 90,9 % točnost beleženja rodovniških podatkov, medtem ko smo neskladja ugotovili pri štirih družinah od 44-ih. V dveh primerih je bil potomcu nepravilno pripisan oče ali mati, pri ostalih dveh primerih pa sta bila jagnjetu napačno pripisana oba starša. V drugem delu raziskave smo poskušali z istim nizom mikrosatelitnih označevalcev določiti očetovstva štirim jagnjetom istrske pramenke, kjer v času paritev v trop pripuščajo dvajset ovnov in tako jagnje nima poznanega očeta. Trem jagnjetom smo lahko nedvoumno določili očeta z izločitvijo ostalih devetnajstih. V enem primeru smo ugotovili, da niz osmih označevalcev ni dovolj informativen za določitev očeta potomcu, zato smo analizo razširili in z vključitvijo dodatnih štirih mikrosatelitnih označevalcev uspešno določili očetovstvo tudi v tem primeru. Z izbranim nizom molekularnih označevalcev in obdelave podatkov je možno učinkovito preverjati obstoječe rodovniške podatke in napovedati očetovstvo jagnjetom v tropih, kjer pripuščajo večje število ovnov. Rezultati take analize so lahko v pomoč rejcem in selekcijskim službam za izboljšanje točnosti rodovniških podatkov in učinkovitejše načrtovanje reje in selekcije pri ovcah.

Kappa casein (κ-CN) is milk protein that determines the size and specific function of the casein micelles, and its clevage by chymosine is responsible for milk coagulation. Any variation in gene promoter or coding sequence may change the expression of the gene or amino acid sequence, effecting functional properties of the protein. The mature κ-CN is encoded by part of the exon 3 and the entire exon 4. Since exon 3 has 33 bp and exon 4 is 497 bp long, the major part of the protein is encoded by exon 4. In this study we identified two SNPs in exon 1 and two in exon 4 of the horse kappa casein gene (CSN3) and genotyped them in three horse breeds. The nucleotide sequence of the first exon was included in this study due to its possible role in the regulation of the CSN3 expression. Because these polymorphisms were analysed for the first time, we used a reference method (RFLP) or at least two other complementig methods (Bi-PASA/PIRA and ASA-PCR/PIRA), for molecular genetic analysis of above mentioned SNPs. The highest variation in genotype frequencies was present in Slovenian cold blood breed. SNPs in exon 4 cause amino acid (AA) change in the mature product, and may very well render chemical/functional properties of the protein. Analysis of the consequences caused by changes in AA sequence, by online avaible program tools, comfirmed our hypotesis.

PPARGC-1 gene is assumed to be a candidate gene with a major effect on fatness and meat quality. In this study, frequency of T/A substitution at position 1378 in PPARGC-1 gene in pigs was examined in boars of 4 different breeds. Frequency of genotypes and alleles were compared between animals with the thinnest and with the thickest backfat. Differences in genotype frequency between groups were significant in dam line of Slovenian Landrace (SL11) and sire line of Large White breed (LW66). Allele A was predominantly present in animals with thick backfat in SL11 (71.05%), LW66 (58%) and in sire line of Slovenian Landrace (67.65%). Differences in allele frequency were significant in SL11. We found a significant effect on phenotypic and breeding values for backfat in population of Large White breeds, where homozygotes TT had the thickest backfat, and heterozygotes the thinnest. In population of Slovenian Landrace breed the thickest backfat had homozygotes AA and the thinnest homozygotes TT. Similar results were obtained by analysis of gene effect on breeding values. Inconsistency could be explained by different background of allele, epistasis and intensity of selection.

Mitochondrial transcription factor A (TFAM) is a nucleus-encoded protein that is essential for initiation of transcription and replication of mitochondrial DNA (mtDNA). It has been shown that TFAM binds the entire length of the mtDNA, but with higher affinity to sequences around both mitochondrial promoters located in 3’ domain of the D-loop region. The objectives of this study were to detect genetic polymorphisms in the sequence flanking TFAM binding sites of the mtDNA D-loop region and investigate their associations with marbling in Wagyu x Limousin F2 crosses. We identified six polymorphis sites in the TFAM binding sites of the D-loop mtDNA (G8A, T106C, A169G, A173G and C190T and one insertion/deletion at position 221 with one or two cytosines) with no significant differences in frequencies of polymorphic sites between extreme high/low marbling pools.

Polimorfizmi genov, ki kodirajo proteine mleka imajo pogosto pomemben vpliv na tehnološke lastnosti mleka. Čeprav so podatki o vplivu alelnih variant laktoproteinskih genov na tehnološke lastnosti mleka pogosto kontradiktorni, v selekcijske programe vse pogosteje vključujejo tudi informacije o genotipu na laktoproteinskih lokusih, da bi v populacijah povečali frekvenco alel z ugodnim učinkom na tehnološke lastnosti mleka. Glavni proizvod paške ovce je mleko, ki ga večinoma predelajo v paški sir. Izboljšanje tehnoloških lastnosti mleka te pasme bi bistveno pripomoglo k večji ekonomičnosti reje te pasme. Z namenom, da bi ugotovili frekvenco alelov laktoproteinskih genov, ki pomembno vplivajo na predelovalne lastnosti ovčjega mleka, smo v tej raziskavi tipizirali gena za β-laktoglobulin in as1-kazein štiridesetih živali. Genotipizacijo smo izvedli s pomnoževanjem delov obeh genov z verižno reakcijo s polimerazo in estrikcijo amplifikatov z ustreznimi endonukleazami. Na lokusu za β-laktoglobulina smo našli alela A in B (0,5375; 0,4625), na lokusu za as1-kazein pa smo določali aleli A in D (0,0875; 0,1340). Glede na podatke v literaturi lahko rečemo, da frekvence alel za β-laktoglobulin in as1‑kazein v populaciji paške ovce niso najugodnejše in da bi z uporabo molekularnih metod frekvenco alel z ugodnimi tehnološkimi lastnostmi lahko sorazmerno hitro povečali. To bi vodilo k izboljšanju ekonomičnosti reje te pasme, katere edini tržno uveljavljeni produkt je paški sir.

Z analizo mitohondrijske DNK 53 lipicancev slovenske reje smo našli 17 različnih haplotipov mitohondrijske DNK. Deset haplotipov (Capriola, Allegra, Monteaura, Slavina, Batosta, Gratiosa, Wera, Betalka, Dubovina in Gaetana) je bilo značilnih za klasične lipicanske rodove, haplotip Thais za nov slovenski rod Rebecca in haplotipi M, C, Strana, Trompeta, Boka in Y za lipicanske rodove hrvaškega, romunskega ali madžarskega izvora. Visok delež haplotipov, značilnih za klasične rodove, je bil pričakovan, ker so v Sloveniji po letu 1947 želeli obnoviti lipicansko čredo predvsem s klasičnimi rodovi. Rezultati kažejo, da so bili trije klasični rodovi obnovljeni z lipicanci iz napačnih rodov; v teh rodovih imajo lipicanci slovenske reje namreč različne haplotipe kot lipicanci iz drugih evropskih držav. Več kot en haplotip smo našli znotraj štirih rodov, kar kaže na dodatne nepravilnosti v rodovnikih. Predlagamo, da se nepravilnosti odpravijo z uvedbo novih rodov in z manjšimi prerazporeditvami lipicancev med rodovi. Geografski izvor lipicanskih haplotipov ostaja večinoma neznan, toda haplotipa Allegra in Monteaura bi bila lahko španskega izvora, ker so taki haplotipi najbolj pogosti pri iberijskih (andaluzijskih in lusitano konjih) ter severno-afriških konjih (berberih). Kladrubski izvor haplotipov Batosta in Slavina, ki sta značilna za lipicanska rodova kladrubskega izvora Africa in Almerina, lahko potrdimo z odkritjem obeh haplotipov pri današnjih kladrubskih konjih; arabski izvor haplotipa Gaetana, ki je značilen za lipicanski rod arabskega izvora Gidrane, pa z visoko pogostostjo haplotipa Gaetana v populaciji arabskih konj.

Milk plays an important role in human nutrition. Nowadays, dairy industry is oriented in the production of increasing number of different milk products and technological properties of milk are gaining more and more attention. Introduction of recombinant DNA technology in the early 1970 and development of molecular genetics enabled studies of the organization of milk protein genes and mechanisms involved in their expression. Genome research in farm animals was oriented in production of low-density genetic maps with the emphasis on the genetic variation in some functionally important regions. In the public databases, 1598 cattle genes have already been mapped and partially sequenced by the end of 2003. In addition, numerous quantitative trait loci (QTL) were mapped for economically important traits. Typical examples include milk yield and milk composition in dairy cattle. The availability of genomic DNA sequences for a number of potential candidate genes with an impact on production traits allowed construction of cattle genome microarrays. Functional studies of milk protein genes revealed the impact of different genetic variants on technological properties of milk. Genomics approach thus offers an entirely new way to identify complex interactions among milk protein genes other genes involved in milk production and elucidation of the complex regulatory network allowing efficient milk production in the mammary gland.

Z namenom, da bi ocenili genetsko sorodnost med tremi slovenskimi avtohtonimi pasmami ovc smo proučevali razlike na mikrosatelitnih lokusih: MAF214, OarCP49, OarFCB11, MAF65, McM42, TGLA53, McM527 in OarAE119. Genotipizacija 95 istrskih pramenk (ISP), 272 bovških ovc (B) in 42 jezersko-solčavskih ovc (JS) je pokazala, da so za vse tri pasme večinoma značilni enaki aleli, oz. še več, 12 alelov je pogostih (> 10 %) v vseh treh pasmah. Na vsakem od lokusov smo našli tudi 1–5 privatnih alelov. Osem alelov je bilo specifičnih za ISP, 8 za B in 3 za JS. Korespondenčna analiza in analiza uvrščanja genotipov osebkov v ustrezno pasmo kažeta, da se večina osebkov pasme ISP uvršča v svojo skupino, medtem ko se porazdelitvi B in JS, zaradi več zelo podobnih genotipov v obeh pasmah, delno prekrivata. Ocene genetskih razdalj potrjujejo višjo sorodnost med B in JS (FST = 0,044) kot med ISP in B (FST = 0,064) ali med ISP in JS (FST = 0,075). Okrog 6 % delež variance, ki izhaja iz razlik med pasmami (FST vrednost), kaže, da razlike med pasmami niso prav velike. Menimo, da so rezultati v skladu s hipotezo o skupnem nastanku B in JS iz domače primitivne bele ovce, oz. nastanku ISP iz nekoliko bolj oddaljene pramenke »Zackel« ovce. Šele nadaljnje analize pa bodo lahko osvetlile vplive padovanske in bergamaške ovce, ki sta verjetno sodelovali pri nastanku JS, pa tudi vplive drugih sojev pramenk na ISP.