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Argali (Ovis ammon), the largest species among all wild sheep, is native to mountainous regions of Central and East Asia, spreading mainly throughout such countries as Tajikistan, Kyrgyzstan, Kazakhstan, Afghanistan, Mongolia, Russia and China. Intraspecific taxonomy of argali remains unclear, and currently, most researchers recognize up to nine subspecies. The aim of our work was to investigate the phylogenetic relationship between populations of O. ammon based on genome-wide SNP analysis. Five subspecies, Altai (O. a. ammon) (n = 6), Gobi (O. a. darwini) (n = 5), Pamir (O. a. polii) (n = 12), Tian Shan (O.a. karelini) (n = 15) and Kyzylkum (O. a. severtzovi) (n = 4), were genotyped using Illumina OvineHD BeadChip. In addition, complete mitogenome sequences from 30 of those samples were obtained. After quality control procedures, 65,158 SNPs were selected for the subsequent analyses. Neighbor-Net dendrogram and principal component analysis (PCA) revealed that the five subspecies could be grouped into four clusters. It was shown that a population from Altai formed a cluster with Gobi subspecies. The highest pairwise FST genetic distance was between O. a. ammon and O. a. severtzovi (0.421) and the lowest were between O. a. polii and O.a. karelini (0.083) and between O. a. ammon and O. a. darwini (0.040) subspecies. Genetic diversity was higher in Central Asian argali as compared to East Asian populations. O. a. severtzovi had an admixed origin and consisted of two genetic components—73.5 ± 0.2% of O. a. polli and 26.5 ± 0.2% of urial (O. vignei). TreeMix analysis revealed a migration event from urial to O. a. severtzovi argali. The analysis of complete mitogenomes supported the results based on whole-genome genotyping. Considering that all the mtDNA sequences of O. a severtzovi belonged to O. ammon and not to O. vignei, we concluded that gene flow in this group was associated with urial males. As this is only the first work on intraspecific taxonomy and genetic diversity of argali based on genome-wide SNP genotyping and the analysis of complete mitogenomes, we suggest that more genetic studies are needed to clarify the status of Gobi and Tian Shan argali.

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 Southeast 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 T-3 and several rare haplogroups (Q, T-5, T-4, T-2 and T-1), we have identified maternal line in Austrian Murbodner cattle that possess surviving aurochs' mitochondria haplotype P-1 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 T-5 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 T-2, followed by Q (-10.0-9.5 kyBP), whereas cattle with T-3 (similar to 7.5 kyBP) and T-1 (similar to 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 P-1 mitogenome.

International audience; Background: The indigenous cattle populations from Greece and Cyprus have decreased to small numbers and are currently at risk of extinction due to socio-economic reasons, geographic isolation and crossbreeding with commercial breeds. This study represents the first comprehensive genome-wide analysis of 10 indigenous cattle populations from continental Greece and the Greek islands, and one from Cyprus, and compares them with 104 international breeds using more than 46,000 single nucleotide polymorphisms (SNPs).Results: We estimated several parameters of genetic diversity (e.g. heterozygosity and allelic diversity) that indicated a severe loss of genetic diversity for the island populations compared to the mainland populations, which is mainly due to the declining size of their population in recent years and subsequent inbreeding. This high inbreeding status also resulted in higher genetic differentiation within the Greek and Cyprus cattle group compared to the remaining geographical breed groups. Supervised and unsupervised cluster analyses revealed that the phylogenetic patterns in the indigenous Greek breeds were consistent with their geographical origin and historical information regarding crosses with breeds of Anatolian or Balkan origin. Cyprus cattle showed a relatively high indicine ancestry. Greek island populations are placed close to the root of the tree as defined by Gir and the outgroup Yak, whereas the mainland breeds share a common historical origin with Buša. Unsupervised clustering and D-statistics analyses provided strong support for Bos indicus introgression in almost all the investigated local cattle breeds along the route from Anatolia up to the southern foothills of the Alps, as well as in most cattle breeds along the Apennine peninsula to the southern foothills of the Alps.Conclusions: All investigated Cyprus and Greek breeds present complex mosaic genomes as a result of historical and recent admixture events between neighbor and well-separated breeds. While the contribution of some mainland breeds to the genetic diversity pool seems important, some island and fragmented mainland breeds suffer from a severe decline of population size and loss of alleles due to genetic drift. Conservation programs that are a compromise between what is feasible and what is desirable should focus not only on the still highly diverse mainland breeds but also promote and explore the conservation possibilities for island breeds.

Tail docking in young lambs of long-tailed breeds has become a regular practice worldwide, but nowadays animal welfare also plays an increasingly important role in society. Consequently, a genetic solution to breed for a shorter tail is needed, especially in long-tailed breeds like Merino, one of the most important and most numerous sheep breeds worldwide. A serious genetic analysis of the natural diversity in tail length should consider the autocorrelation of tail length and individual body size. This study aimed to compare different morphometric measurements and their suitability as a correction factor for individual body size and to identify an optimal time point for phenotyping of the main and correlated traits. For this purpose, a total of 88 Merinolandschaf lambs, the most common German Merino variety, were measured weekly during their first eight weeks of life. Besides absolute tail length itself, the following morphometric traits where phenotyped: body weight, withers height, back height, length of the body measured with a rule, length of the body measured with a measuring tape, length of the metacarpus, length of the femur and length from the anus to the hock. Additionally, the length of the tail was scored according to the Ovicap scoring scheme, gender and litter were identified and the tail wound in lambs that had to be docked due to injuries was examined. A high correlation (0.854) between initial tail length and the length at weaning confirmed that predictions about the development of tail length from data at birth should be possible. For correcting tail length for individual body size, withers height and body weight in five-week-old lambs proved most suitable. Withers height and body weight were selected for their high coefficient of determination in the linear model, their high correlation with tail length and the good retest reliability. The advantages of phenotyping and genotyping five-week-old lambs are easier handling compared to adult sheep, the ability to detect phenocopies produced by docking in case of tail injuries, a high coefficient of determination in the linear regression model and a good retest reliability at this time point.

Domestic reindeer in Russia are a valuable resource of vital importance to the physical and cultural survival of the Northern indigenous minority. During the last decades, the mitochondrial (mt) genetic markers have been widely used as a molecular tool to investigate genetic structure and diversity of livestock species. Here we aimed at the assessing the mtDNA diversity of the domestic reindeer inhabiting the area from the Kola Peninsula in the west to the Chukotka region in the east. A complete cytochrome b (cytb) sequences (1,140 bp) from representatives of six populations, including Nenets (NEN, n = 16), Evenk (EVK, n = 12), Even (EVN, n = 6), Chukotka (CHU, n = 6), Chukotka-Khargin (CHUKH, n = 6) and Tuva (TUVA, n = 6) were obtained. Sequences’ alignment was conducted using MUSCLE algorithm in R package msa. In total, 34 haplotypes were identified. Median-joining network, constructed in PopART 1.7, revealed three major groups of haplotypes: the first one joined the samples of all the populations, the second one included NEN, EVN and CHUKH, and the third group was presented by the one sample of CHU. AMOVA, calculated in Arlequin 3.5.2.2, showed that only 9.58% of molecular variance could be explained by the differences between populations and 90.42% - within populations. Genetic diversity parameters calculated in DnaSP 6.12.03, demonstrated that average number of nucleotide differences (K) was highest in CHUKH (28.333) and EVN (27.409) and lowest in TUVA (4.533) and EVK (5.400). Nucleotide diversity (Pi) was 0.01238±0.00559, 0.00474±0.00091, 0.02404±0.00453, 0.01281±0.00464, 0.02485±0.00744, and 0.00398±0.00110 for NEN, EVK, EVN, CHU, CHUKH and TUVA, respectively. Our study demonstrated the lack of clear genetic structure of the studied reindeer populations in relation to cytb sequence. The level of genetic diversity was associated with census size and was lowest in the smallest Tuva population. This study was supported by RSF-21-16-00071 and Russian Ministry of Science and Higher Education-0445-2019-0024.

Currently, the intraspecific taxonomy of snow sheep (Ovis nivicola) is controversial and needs to be specified using DNA molecular genetic markers. In our previous work using whole-genome single nucleotide polymorphism (SNP) analysis, we found that the population inhabiting Kharaulakh Ridge was genetically different from the other populations of Yakut subspecies to which it was usually referred. Here, our study was aimed at the clarification of taxonomic status of Kharaulakh snow sheep using mitochondrial cytochrome b gene. A total of 87 specimens from five different geographic locations of Yakut snow sheep as well as 20 specimens of other recognized subspecies were included in this study. We identified 19 haplotypes, two of which belonged to the population from Kharaulakh Ridge. Median-joining network and Bayesian tree analyses revealed that Kharaulakh population clustered separately from all the other Yakut snow sheep. The divergence time between Kharaulakh population and Yakut snow sheep was estimated as 0.48 ± 0.19 MYA. Thus, the study of the mtDNA cytb sequences confirmed the results of genome-wide SNP analysis. Taking into account the high degree of divergence of Kharaulakh snow sheep from other groups, identified by both nuclear and mitochondrial DNA markers, we propose to classify the Kharaulakh population as a separate subspecies.

Currently, the intraspecific taxonomy of snow sheep (Ovis nivicola) is controversial and needs to be specified using DNA molecular genetic markers. In our previous work using whole-genome single nucleotide polymorphism (SNP) analysis, we found that the population inhabiting Kharaulakh Ridge was genetically different from the other populations of Yakut subspecies to which it was usually referred. Here, our study was aimed at the clarification of taxonomic status of Kharaulakh snow sheep using mitochondrial cytochrome b gene. A total of 87 specimens from five different geographic locations of Yakut snow sheep as well as 20 specimens of other recognized subspecies were included in this study. We identified 19 haplotypes, two of which belonged to the population from Kharaulakh Ridge. Median-joining network and Bayesian tree analyses revealed that Kharaulakh population clustered separately from all the other Yakut snow sheep. The divergence time between Kharaulakh population and Yakut snow sheep was estimated as 0.48 ± 0.19 MYA. Thus, the study of the mtDNA cytb sequences confirmed the results of genome-wide SNP analysis. Taking into account the high degree of divergence of Kharaulakh snow sheep from other groups, identified by both nuclear and mitochondrial DNA markers, we propose to classify the Kharaulakh population as a separate subspecies.

To predict species responses to anthropogenic disturbances and climate change, it is reasonable to use species with high sensitivity to such factors. Snow sheep (Ovis nivicola) could represent a good candidate for this; as the only large herbivore species adapted to the cold and alpine habitats of northeastern Siberia, it plays a crucial role in its ecosystem. Despite having an extensive geographical distribution among all ovine species, it is one of the least studied. In this study, we sequenced and analysed six genomes of snow sheep in combination with all other wild sheep species to infer key aspects of their evolutionary history and unveil the genetic basis of their adaptation to subarctic environments. Despite their large census population size, snow sheep genomes showed remarkably low heterozygosity, which could reflect the effect of isolation and historical bottlenecks that we inferred using the pairwise sequential Markovian coalescent and runs of homozygosity. F4 -statistics indicated instances of introgression involving snow sheep with argali (Ovis ammon) and Dall (Ovis dalli) sheep, suggesting that these species might have been more widespread during the Pleistocene. Furthermore, the introgressed segments, which were identified using mainly minimum relative node depth, covered genes associated with immunity, adipogenesis and morphology-related traits, representing potential targets of adaptive introgression. Genes related to mitochondrial functions and thermogenesis associated with adipose tissue were identified to be under selection. Overall, our data suggest introgression as a mechanism facilitating adaptation in wild sheep species and provide insights into the genetic mechanisms underlying cold adaptation in snow sheep.

The snow sheep, Ovis nivicola, which is endemic to the mountain ranges of northeastern Siberia, are well adapted to the harsh cold climatic conditions of their habitat. In this study, using long reads of Nanopore sequencing technology, whole-genome sequencing, assembly, and gene annotation of a snow sheep were carried out. Additionally, RNA-seq reads from several tissues were also generated to supplement the gene prediction in snow sheep genome. The assembled genome was ∼2.62 Gb in length and was represented by 7,157 scaffolds with N50 of about 2 Mb. The repetitive sequences comprised of 41% of the total genome. BUSCO analysis revealed that the snow sheep assembly contained full-length or partial fragments of 97% of mammalian universal single-copy orthologs (n = 4,104), illustrating the completeness of the assembly. In addition, a total of 20,045 protein-coding sequences were identified using comprehensive gene prediction pipeline. Of which 19,240 (∼96%) sequences were annotated using protein databases. Moreover, homology-based searches and de novo identification detected 1,484 tRNAs; 243 rRNAs; 1,931 snRNAs; and 782 miRNAs in the snow sheep genome. To conclude, we generated the first de novo genome of the snow sheep using long reads; these data are expected to contribute significantly to our understanding related to evolution and adaptation within the Ovis genus.

Sheep are a main livestock species of Kyrgyzstan, a Central Asian country with predominating mountain terrain. The current gene pool of local sheep resources has been forming under diverse climate conditions from the era of the trading caravans of the Great Silk Road, through the Soviet period of large-scale livestock improvements, which was followed by the deep crisis at the end of the 20th century, up to now. However, not much is known about the genetic background and variability of the local sheep populations. Therefore, our aims were to provide a characterization of the population structure and genetic relations within the Kyrgyz sheep breeds and to study their genetic connections with the global sheep breeds using SNP analysis. Samples of the Alai (n = 31), Gissar (n = 30), Kyrgyz coarse wool (n = 13), Aykol (n = 31), and Tien-Shan (n = 24) breeds were genotyped with the OvineSNP50 BeadChip or the Ovine Infinium HD BeadChip (Illumina Inc., USA). The measure of inbreeding based on runs of homozygosity showed a minimum value in the Aykol breed (FROH = 0.034), while the maximum was found in the Alai breed (FROH = 0.071). Short ROH segments (ROH ≤ 4 Mb) were predominant in all breeds. Long ROH segments (ROH > 16 Mb) were absent in the Gissar breed. The Gissar and Aykol breeds had the highest values of the effective population sizes estimated for five generations ago (Ne5 = 660 and 563), whereas the Alai and Kyrgyz coarse wool displayed lower values (Ne5 = 176 and 128, respectively). The synthetic origin of the Aykol breed was clearly evidenced by all analyses applied. Based on the network and admixture analyses of the Kyrgyz and global sheep breeds, the Tien-Shan and the Russian semi-fine wool breeds demonstrated a common ancestry that most likely is due to a contribution of the Lincoln breed. The Gissar, Aykol, and Kyrgyz coarse wool breeds showed a genetic background predominating in sheep populations from Iran and China whereas the Alai demonstrated the different ancestry type. The revealed admixture patterns probably resulted from the exchange and trade during the era of the Great Silk Road, which partly overlapped with historical and archeological findings.

Karachaev goat (Capra hircus) is a local breed from North-Caucasus region, Russia. Here we present complete mitochondrial genome of Karachaev goat from the republic of Karachaevo-Cherkessia, Russia. The length of the studied sequence was 16,624 bp in size. It was shown that the studied specimen belonged to haplogroup A.

Zusammenfassung. Ziel der Studie war es, die Wirksamkeit des Präventionsprojekts „Keiner fällt durchs Netz“ zur Unterstützung risikobelasteter Familien in Saarland zu evaluieren. Die Stichprobe von 182 Mutter-Kind-Dyaden setzte sich aus 91 risikobelasteten Dyaden, die am Präventionsprojekt teilnahmen und 91 risikobelasteten Dyaden aus Kontrollfamilien zusammen. Ergebnisse: Der erwartete bessere Entwicklungsstand der Kinder in der Treatmentgruppe nach der Intervention im Vergleich zu den Kindern aus der Kontrollgruppe konnte im Bereich der sozialen Entwicklung bestätigt werden (d = 0.53). Zudem schätzten die Mütter in der KfdN-Gruppe ihre einjährigen Kinder tendenziell als weniger temperamentsschwierig ein (d = 0.18). Interventionseffekte im Bereich mütterlicher Feinfühligkeit, Stressbelastung und depressiver Symptomatik waren nicht nachweisbar. Fazit: Die Intervention hat einen positiven Effekt auf die kindliche soziale Entwicklung und die elterliche Wahrnehmung des kindlichen Temperaments. Der ausbleibende Interventionseffekt im Bereich der mütterlichen Feinfühligkeit legt eine stärkere Berücksichtigung dieses Aspektes in der Konzeption des Projekts nahe.

Background Russia has a diverse variety of native and locally developed sheep breeds with coarse, fine, and semi-fine wool, which inhabit different climate zones and landscapes that range from hot deserts to harsh northern areas. To date, no genome-wide information has been used to investigate the history and genetic characteristics of the extant local Russian sheep populations. To infer the population structure and genome-wide diversity of Russian sheep, 25 local breeds were genotyped with the OvineSNP50 BeadChip. Furthermore, to evaluate admixture contributions from foreign breeds in Russian sheep, a set of 58 worldwide breeds from publicly available genotypes was added to our data. Results We recorded similar observed heterozygosity (0.354–0.395) and allelic richness (1.890–1.955) levels across the analyzed breeds and they are comparable with those observed in the worldwide breeds. Recent effective population sizes estimated from linkage disequilibrium five generations ago ranged from 65 to 543. Multi-dimensional scaling, admixture, and neighbor-net analyses consistently identified a two-step subdivision of the Russian local sheep breeds. A first split clustered the Russian sheep populations according to their wool type (fine wool, semi-fine wool and coarse wool). The Dagestan Mountain and Baikal fine-fleeced breeds differ from the other Merino-derived local breeds. The semi-fine wool cluster combined a breed of Romanian origin, Tsigai, with its derivative Altai Mountain, the two Romney-introgressed breeds Kuibyshev and North Caucasian, and the Lincoln-introgressed Russian longhaired breed. The coarse-wool group comprised the Nordic short-tailed Romanov, the long-fat-tailed outlier Kuchugur and two clusters of fat-tailed sheep: the Caucasian Mountain breeds and the Buubei, Karakul, Edilbai, Kalmyk and Tuva breeds. The Russian fat-tailed breeds shared co-ancestry with sheep from China and Southwestern Asia (Iran). Conclusions In this study, we derived the genetic characteristics of the major Russian local sheep breeds, which are moderately diverse and have a strong population structure. Pooling our data with a worldwide genotyping set gave deeper insight into the history and origin of the Russian sheep populations. Electronic supplementary material The online version of this article (10.1186/s12711-018-0399-5) contains supplementary material, which is available to authorized users.

In this study, we present the first complete mitochondrial genomes of two species of the genus Ovis – snow sheep (Ovis nivicola) and thinhorn sheep (Ovis dalli). The mitochondrial genomes h...

Background Cases of albinism have been reported in several species including cattle. So far, research has identified many genes that are involved in this eye-catching phenotype. Thus, when two paternal Braunvieh half-sibs with oculocutaneous albinism were detected on a private farm, we were interested in knowing whether their phenotype was caused by an already known gene/mutation. Results Analysis of genotyping data (50K) of the two albino individuals, their mothers and five other relatives identified a 47.61-Mb candidate haplotype on Bos taurus chromosome BTA20. Subsequent comparisons of the sequence of this haplotype with sequence data from four Braunvieh sires and the Aurochs genome identified two possible candidate causal mutations at positions 39,829,806 bp (G/A; R45Q) and 39,864,148 bp (C/T; T444I) that were absent in 1682 animals from various bovine breeds included in the 1000 bull genomes project. Both polymorphisms represent coding variants in the SLC45A2 gene, for which the human equivalent harbors numerous variants associated with oculocutaneous albinism type 4. We demonstrate an association of R45Q and T444I with the albino phenotype by targeted genotyping. Conclusions Although the candidate gene SLC45A2 is known to be involved in albinism in different species, to date in cattle only mutations in the TYR and MITF genes were reported to be associated with albinism or albinism-like phenotypes. Thus, our study extends the list of genes that are associated with bovine albinism. However, further research and more samples from related animals are needed to elucidate if only one of these two single nucleotide polymorphisms or the combination of both is the actual causal variant. Electronic supplementary material The online version of this article (doi:10.1186/s12711-017-0349-7) contains supplementary material, which is available to authorized users.

The study investigated the effects of a German family-supporting prevention program “Keiner fallt durchs Netz” (KfdN; “Nobody Slips Through the Net”) after the child's first year in the sample of 152 psychosocially stressed mothers and children who took part in this program and 150 mothers and children from comparison-group families. The improved level of development posited in the children after intervention as compared to children from the comparison group was confirmed in the social development area (d = .35). In addition, mothers in the KfdN group judged their 1-year-old children to be less “difficult” compared to the assessments of the mothers in the comparison group (d = .24). Due to the intervention, the dysfunctionality of the mother–child interaction was reduced (mothers’ self-assessment, d = .27). No intervention effects were found in for degree of maternal stress. The expected intervention effects in maternal sensitivity were not empirically confirmed. The results suggest that the KfdN intervention exerted a direct positive influence on childhood traits such as social development and temperamental “difficulty” and also positively influenced the mothers’ perceptions or attitudes toward their children's conduct. Este estudio investigo los efectos de un programa aleman preventivo de apoyo a la familia, “Keiner fallt durchs Netz” (KfdN) despues del primer ano del nino en un grupo muestra de 152 madres estresadas sicosocialmente y sus ninos quienes formaron parte de este programa, y 150 madres y sus ninos de las familias del grupo de control. El mejor nivel de desarrollo propuesto en los ninos despues de la intervencion, comparados con los ninos del grupo de control fue confirmado en el area de desarrollo social (d = .34). Adicionalmente, las madres en el grupo KfdN juzgaron a sus ninos de un ano de edad como menos “dificiles” comparados con la evaluacion de las madres en el grupo de control (d = .24). Debido a la intervencion, la disfuncionalidad de la interaccion madre-nino se alivio (la autoevaluacion de las madres, d = .27). Se encontraron efectos de no intervencion en el area del nivel de estres maternal. Los esperados efectos de la intervencion en el area de sensibilidad maternal no fueron empiricamente confirmados. Los resultados sugieren que la intervencion KfdN ha ejercido una influencia positiva directa en las caracteristicas infantiles como el desarrollo social y la “dificultad” temperamental, y que la misma tambien influyo positivamente en la percepcion o actitud de la madre hacia la conducta de su nino. Cette etude a enquete sur les effets d'un programme allemand de soutien familial de prevention “Keiner fallt durchs Netz” (KfdN) apres la premiere annee de l'enfant chez un echantillon de 152 meres stressees psychosocialement. Le meilleur niveau de developpement avance chez les enfants apres l'intervention compares aux enfant du groupe de controle a ete confirme dans le domaine du developpement social (d = ,34). De plus les meres du groupe ont juge leurs enfants d'un an comme etant moins “difficile” compare aux evaluations des meres du groupe de controle (d = ,24). Du fait de l'intervention la dysfunctionalite de l'interaction mere-enfant a ete reduite (auto-evaluation des meres, d = ,27). Aucun effet d'intervention n'a ete trouve dans le domaine du degre de stress maternel. Les effets attendus de l'intervention dans le domaine de la sensibilite maternelle n'ont pas ete confirme empiriquement. Les resultats suggerent que l'intervention KfdN a a la fois exerce une influence directe positive sur les traits de l'enfance comme le developpement social et la “difficulte” liee au temperament et egalement influence de maniere positive la perception ou l'attitude des meres envers la conduite de leur enfant. Diese Studie untersucht die Wirksamkeit des deutschen Praventionsprogramms, Keiner fallt durchs Netz“ (KfdN) zur Unterstutzung von Familien nach dem ersten Lebensjahr ihres Kindes in einer Stichprobe von 152 psychosozial gestressten Muttern und ihren Kindern, die an diesem Programm teilnahmen, sowie 150 Mutter und ihre Kinder aus Kontrollfamilien. Die als besser vorhergesagten Entwicklungsstufe in Kindern nach der Intervention im Vergleich zur Kontrollgruppe konnte in Bezug auf die soziale Entwicklung bestatigt werden (d = .34). Des Weiteren schatzten Mutter der KfdN Gruppe ihre einjahrigen Kinder als weniger „schwierig“ im Vergleich zu den Einschatzungen der Mutter der Kontrollgruppe (d = .24) ein. Anhand der Intervention konnte die Dysfunktionalitat der Mutter-Kind Interaktion verringert werden (mutterliche Selbstbeurteilung, d = .27). Es wurden keine Interventionseffekte hinsichtlich des Ausmases der mutterliche Belastung verzeichnet. Die erwarteten Internventionseffekte im Bereich der mutterlichen Sensitivitat konnten nicht empirisch nachgewiesen werden. Die Ergebnisse deuten darauf hin, dass die KfdN Intervention sowohl einen direkten positiven Einfluss auf Kindesmerkmale, wie soziale Entwicklung und schwieriges Temperament ausubte, als auch die Wahrnehmung der Mutter und ihre Einstellung in Bezug auf das Verhalten ihres Kindes positiv beeinflusste. 抄録：この研究は、ドイツの家族支援予防プログラム“Keiner fallt durchs Netz一人も網からこぼれ落ちない” (KfdN) の効果を、子どもの最初の１年の後に、このプログラムに参加した152組の心理社会的なストレスのある母子のと150組の対照家庭の母子という標本に対して調査した。対照群の子どもに比べて、介入後の子どもに仮定されたよりよい発達レベルは、社会的発達の領域で確認された(d = .34)。それに加え、KfdN群の母親は、対照群の母親の評価に比べて、自分の1歳児を「困難な」と判断することが少なかった(d = .24)。介入のおかげで、母子の相互交流における機能不全性が緩和された(母親の自己評価d = .27）。母親のストレスの程度の領域では、介入の効果は見られなかった。母親の感受性の領域における予測された介入の効果は、研究からは確認されなかった。結果から、KfdN介入は、子ども時代の性質的な社会性の発達と気質的な「困難さ」のに直接の肯定的な影響を及ぼしたことと、そして子どもの振る舞いについての母親の知覚あるいは態度にも肯定的に影響したことの両方が示唆された。

Preservation of genetic diversity is one of the most pressing challenges in the planetary boundaries concept. Within this context, we focused on genetic diversity in a native, unselected and highly admixed domesticated metapopulation. A set of 1, 828 individuals from 60 different cattle breeds was analysed using a medium density SNP chip. Among these breeds, 14 Buša strains formed a metapopulation represented by 350 individuals, while the remaining 46 breeds represented the global cattle population. Genetic analyses showed that the scarcely selected and less differentiated Buša metapopulation contributed a substantial proportion (52.6%) of the neutral allelic diversity to this global taurine population. Consequently, there is an urgent need for synchronized maintenance of this highly fragmented domestic metapopulation, which is distributed over several countries without sophisticated infrastructure and highly endangered by continuous replacement crossing as part of the global genetic homogenization process. This study collected and evaluated samples, data and genomewide information and developed genome‐ assisted cross‐border conservation concepts. To detect and maintain genetic integrity of the metapopulation strains, we designed and applied a composite test that combines six metrics based on additive genetic relationships, a nearest neighbour graph and the distribution of semiprivate alleles. Each metric provides distinct information components about past admixture events and offers an objective and powerful tool for the detection of admixed outliers. The here developed conservation methods and presented experiences could easily be adapted to comparable conservation programmes of domesticated or other metapopulations bred and kept in captivity or under some other sort of human control.

Hintergrund Um die Wirkung von Praventionsprogrammen fur Familien, die durch psychosoziale Risiken belastet sind, zu verbessern und Gesundheitsressourcen zu starken sind Einflussfaktoren auf die Auspragung dieser Risiken zu identifizieren.

Fragestellung: Zusammenhänge zwischen persistierendem, exzessivem Schreien des Säuglings im fünften Lebensmonat und den prä- und perinatalen Belastungen sowie der postnatalen Befindlichkeit ihrer Mütter zu untersuchen. Methodik: Alle Daten wurden erhoben, als die Kinder im Durchschnitt 18.5 Wochen alt waren. Die Stichprobe von 300 Mutter-Kind-Dyaden war durch psychosoziale Risiken wie Armut, Mangel an sozialer Unterstützung, Minderjährigkeit der Mütter, Substanzmissbrauch oder psychische Störungen der Mutter belastet. Das exzessive Schreien wurde nach der Wessel-Regel erfasst, für die Erhebung von prä-, peri- und postnatalen Belastungen wurden Fragebögen vorgelegt. Ergebnisse: Multivariate Analysen zeigten ein erhöhtes Risiko für soziale Belastung in der Schwangerschaft (OR = 17.66) und für eine unerwünschte Schwangerschaft (OR = 13.77). Postnatal war das persistierende exzessive Schreien mit höheren Ausprägungen einer postpartalen depressiven Symptomatik der Mutter, mütterlicher Stressbelastung, Dysfunktionalität der Mutter-Kind-Interaktion, dem Wahrnehmen des Säuglings als «schwierig» sowie mit Schwierigkeiten bei der emotionalen Beziehungsaufnahme assoziiert. Schlussfolgerungen: Die Ergebnisse unterstreichen den Einfluss erhöhter pränataler Stressbelastung der Mütter und einer unerwünschten Schwangerschaft auf das persistierende exzessive Schreien der Säuglinge. Ein herabgesetztes Wohlbefinden der Mütter sowie ihre Schwierigkeiten bei der emotionalen Beziehungsaufnahme implizieren einen erhöhten Bedarf an Unterstützungsangeboten. Das Zusammenwirken von pränatalen und Beziehungsvariablen spielt eine Rolle für das Auftreten und die Aufrechterhaltung von frühen Regulationsproblemen.

Die vorgestellte explorative Studie untersucht die Feinfuhligkeit von Muttern und Vatern belasteter Familien im Umgang mit Sauglingen, die am Praventionsprojekt „Keiner fallt durchs Netz“ teilnehmen. Feinfuhligkeit wird mithilfe des CARE-Index untersucht, daruber hinaus werden Zusammenhange mit den Faktoren elterliche Belastung, postpartale Depression, elterliches Bindungsverhalten, elterliche Stressbelastung sowie elterliches Koharenzgefuhl erhoben. Im Ergebnis kann ein Zusammenhang zwischen den mutterlichen und vaterlichen Feinfuhligkeitswerten sowie eine Korrelation der mutterlichen, nicht jedoch der vaterlichen Feinfuhligkeit mit der familiaren Belastung aufgezeigt werden. Daruber hinaus bestehen zwischen den Eltern deutliche Unterschiede im Koharenzgefuhl. Der CARE-Index erweist sich in diesem Zusammenhang als ein angemessenes Instrument fur die Beantwortung vorliegender Fragestellung im Rahmen der Fruhen Hilfen sowie fur die Einbeziehung von Vatern in Studien zur Feinfuhligkeit. Abschliesend werden Implikationen der Ergebnisse fur die Praxis der Fruhen Hilfen diskutiert.

Background Bovine progressive degenerative myeloencephalopathy (Weaver syndrome) is a neurodegenerative disorder in Brown Swiss cattle that is characterized by progressive hind leg weakness and ataxia, while sensorium and spinal reflexes remain unaffected. Although the causal mutation has not been identified yet, an indirect genetic test based on six microsatellite markers and consequent exclusion of Weaver carriers from breeding have led to the complete absence of new cases for over two decades. Evaluation of disease status by imputation of 41 diagnostic single nucleotide polymorphisms (SNPs) and a common haplotype published in 2013 identified several suspected carriers in the current breeding population, which suggests a higher frequency of the Weaver allele than anticipated. In order to prevent the reemergence of the disease, this study aimed at mapping the gene that underlies Weaver syndrome and thus at providing the basis for direct genetic testing and monitoring of today’s Braunvieh/Brown Swiss herds. Results Combined linkage/linkage disequilibrium mapping on Bos taurus chromosome (BTA) 4 based on Illumina Bovine SNP50 genotypes of 43 Weaver-affected, 31 Weaver carrier and 86 Weaver-free animals resulted in a maximum likelihood ratio test statistic value at position 49,812,384 bp. The confidence interval (0.853 Mb) determined by the 2-LOD drop-off method was contained within a 1.72-Mb segment of extended homozygosity. Exploitation of whole-genome sequence data from two official Weaver carriers and 1145 other bulls that were sequenced in Run4 of the 1000 bull genomes project showed that only a non-synonymous SNP (rs800397662) within the PNPLA8 gene at position 49,878,773 bp was concordant with the Weaver carrier status. Targeted SNP genotyping confirmed this SNP as a candidate causal mutation for Weaver syndrome. Genotyping for the candidate causal mutation in a random sample of 2334 current Braunvieh animals suggested a frequency of the Weaver allele of 0.26 %. Conclusions Through combined use of exhaustive sequencing data and SNP genotyping results, we were able to provide evidence that supports the non-synonymous mutation at position 49,878,773 bp as the most likely causal mutation for Weaver syndrome. Further studies are needed to uncover the exact mechanisms that underlie this syndrome. Electronic supplementary material The online version of this article (doi:10.1186/s12711-016-0201-5) contains supplementary material, which is available to authorized users.

To investigate the relationship between persistent, excessive crying in 5-month-old infants and the pre- and perinatal adversities as well as postpartal mood of their mothers.A sample of 300 mother-child dyads was examined at infants' age of 18.5 weeks. All mothers exhibited psychosocial risks such as poverty, lack of social support, being underage, drug abuse or mental disorders. Excessive crying was assessed by the Wessel's «rule of threes». Pre-, peri- and postnatal problems were measured by self-report questionnaires.Multivariate data analysis revealed an increased risk for social adversities during pregnancy (OR = 17.66) and unwanted pregnancy (OR = 13.77). For the postnatal period persistent crying was associated with a higher rate of maternal postpartum depressive symptoms, maternal stress, dysfunctional mother-child interactions, perception of the infant as being «difficult» as well as bonding problems.The results point to the influence of prenatal stress in mothers and a primarily unwanted pregnancy on infants' persistent crying. An increased need for support is suggested in cases of considerably reduced well-being of the mother or bonding problems. The combined effect of prenatal variables and relationship variables influences the occurrence and perpetuation of early regulation problems.

Background Maternal postpartum depression has an impact on mother-infant interaction. Mothers with depression display less positive affect and sensitivity in interaction with their infants compared to non-depressed mothers. Depressed women also show more signs of distress and difficulties adjusting to their role as mothers than non-depressed women. In addition, depressive mothers are reported to be affectively more negative with their sons than with daughters. Methods A non-clinical sample of 106 mother-infant dyads at psychosocial risk (poverty, alcohol or drug abuse, lack of social support, teenage mothers and maternal psychic disorder) was investigated with EPDS (maternal postpartum depressive symptoms), the CARE-Index (maternal sensitivity in a dyadic context) and PSI-SF (maternal distress). The baseline data were collected when the babies had reached 19 weeks of age. Results A hierarchical regression analysis yielded a highly significant relation between the PSI-SF subscale "parental distress" and the EPDS total score, accounting for 55% of the variance in the EPDS. The other variables did not significantly predict the severity of depressive symptoms. A two-way ANOVA with "infant gender" and "maternal postpartum depressive symptoms" showed no interaction effect on maternal sensitivity. Conclusions Depressive symptoms and maternal sensitivity were not linked. It is likely that we could not find any relation between both variables due to different measuring methods (self-reporting and observation). Maternal distress was strongly related to maternal depressive symptoms, probably due to the generally increased burden in the sample, and contributed to 55% of the variance of postpartum depressive symptoms.