Human Genomic Diversity Where the Mediterranean Joins the Atlantic.

Throughout the past few years, a lively debate emerged about the timing and magnitude of the human migrations between the Iberian Peninsula and the Maghreb. Several pieces of evidence, including archaeological, anthropological, historical, and genetic data, have pointed to a complex and intermingled evolutionary history in the western Mediterranean area. To study to what extent connections across the Strait of Gibraltar and surrounding areas have shaped the present-day genomic diversity of its populations, we have performed a screening of 2.5 million single-nucleotide polymorphisms in 142 samples from southern Spain, southern Portugal, and Morocco. We built comprehensive data sets of the studied area and we implemented multistep bioinformatic approaches to assess population structure, demographic histories, and admixture dynamics. Both local and global ancestry inference showed an internal substructure in the Iberian Peninsula, mainly linked to a differential African ancestry. Western Iberia, from southern Portugal to Galicia, constituted an independent cluster within Iberia characterized by an enriched African genomic input. Migration time modeling showed recent historic dates for the admixture events occurring both in Iberia and in the North of Africa. However, an integrative vision of both paleogenomic and modern DNA data allowed us to detect chronological transitions and population turnovers that could be the result of transcontinental migrations dating back from Neolithic times. The present contribution aimed to fill the gaps in the modern human genomic record of a key geographic area, where the Mediterranean and the Atlantic come together.

Evaluation of grape ripeness, carbonic maceration and pectolytic enzymes to improve the chemical and sensory quality of red sparkling wines.

BACKGROUND: Red sparkling wines are and innovative product for the oenology market, and oenologists are looking for technologies to improve their winemaking. The present study aimed to use both carbonic maceration and pectolytic enzymes applied to premature grapes during the winemaking of red sparkling wines. Both could modify the release of polyphenols, as well as improve the foaming, aroma and sensory properties of the wines. RESULTS: Red sparkling wines made with mature grapes showed the highest content of polyphenols, ethyl esters, alcohol acetates, total volatile acids and foam stability time. They were characterised by a high foam collar and foam area, full-body, astringency, persistence, and olfactory intensity, and were the best evaluated with respect to global perception in the sensory analysis. Treatment with pectolytic enzymes was not effective with unripe grapes. These wines showed a high content of total ethyl esters and the highest content of lactones, producing wines with high olfactory intensity and fruity aromas. Red sparkling wines made by carbonic maceration showed the lowest content of total polyphenols, anthocyanins and proanthocyanidins, as well as high contents of C6 alcohols and total ethyl esters, and were characterised by vegetal aroma notes. Both treatments produced red sparkling wines with good foam characteristics. CONCLUSION: Winemaking of red sparkling wines with premature grapes and pectinolytic enzymes or carbonic maceration did not achieve an improvement with respect to their chemical and sensory qualities. The use of mature grapes and traditional winemaking is the best option for elaborating red quality sparkling wines. © 2020 Society of Chemical Industry.

Paternal lineages in southern Iberia provide time frames for gene flow from mainland Europe and the Mediterranean world.

BACKGROUND: The geography of southern Iberia and an abundant archaeological record of human occupation are ideal conditions for a full understanding of scenarios of genetic history in the area. Recent advances in the phylogeography of Y-chromosome lineages offer the opportunity to set upper bounds for the appearance of different genetic components. AIM: To provide a global knowledge on the Y haplogroups observed in Andalusia with their Y microsatellite variation. Preferential attention is given to the vehement debate about the age, origin and expansion of R1b-M269 clade and sub-lineages. SUBJECT AND METHODS: Four hundred and fourteen male DNA samples from western and eastern autochthonous Andalusians were genotyped for a set of Y-SNPs and Y-STRs. Gene diversity, potential population genetic structures and coalescent times were assessed. RESULTS: Most of the analysed samples belong to the European haplogroup R1b1a1a2-M269, whereas haplogroups E, J, I, G and T show lower frequencies. A phylogenetic dissection of the R1b-M269 was performed and younger time frames than those previously reported in the literature were obtained for its sub-lineages. CONCLUSION: The particular Andalusian R1b-M269 assemblage confirms the shallow topology of the clade. Moreover, the sharing of lineages with the rest of Europe indicates the impact in Iberia of an amount of pre-existing diversity, with the possible exception of R1b-DF27. Lineages such as J2-M172 and G-M201 highlight the importance of maritime travels of early farmers who reached the Iberian Peninsula.

Effects of different oenological techniques on the elaboration of adequate base wines for red sparkling wine production: phenolic composition, sensory properties and foam parameters.

BACKGROUND: In red sparkling winemaking it is essential to obtain base wines with moderate alcohol content, adequate mouthfeel and color intensity. The aim of this work was to study oenological techniques to obtain adequate base wines for production of red sparkling wine by traditional methods: pre-fermentative cold maceration with dry ice and délestage with premature grapes; and sugar reduction in must and partial dealcoholisation of wine with mature grapes. The effect on oenological parameters, e.g. phenolic content, foam and sensory characteristics, was studied in sparkling wines aged on the lees in bottles for 9 months followed by aging for12 months in bottles after disgorging. RESULTS: Pre-fermentative cold maceration was the only treatment that increased the content of anthocyanins in sparkling wines at both stages of aging. Sparkling wines elaborated using délestage showed the highest mean values of the degree of polymerization of proanthocyanidins. Sparkling wines from mature grapes were given higher valuation in the gustatory phase. Sparkling wines elaborated using pre-fermentative cold maceration were given the highest valuation for foam quality. CONCLUSIONS: Pre-fermentative cold maceration is a viable alternative to common techniques for increasing the anthocyanin content in wines from premature grapes. It would therefore be a good option to obtain adequate base wines. © 2019 Society of Chemical Industry.

The distribution of mitochondrial DNA haplogroup H in southern Iberia indicates ancient human genetic exchanges along the western edge of the Mediterranean.

BACKGROUND: The structure of haplogroup H reveals significant differences between the western and eastern edges of the Mediterranean, as well as between the northern and southern regions. Human populations along the westernmost Mediterranean coasts, which were settled by individuals from two continents separated by a relatively narrow body of water, show the highest frequencies of mitochondrial haplogroup H. These characteristics permit the analysis of ancient migrations between both shores, which may have occurred via primitive sea crafts and early seafaring. We collected a sample of 750 autochthonous people from the southern Iberian Peninsula (Andalusians from Huelva and Granada provinces). We performed a high-resolution analysis of haplogroup H by control region sequencing and coding SNP screening of the 337 individuals harboring this maternal marker. Our results were compared with those of a wide panel of populations, including individuals from Iberia, the Maghreb, and other regions around the Mediterranean, collected from the literature. RESULTS: Both Andalusian subpopulations showed a typical western European profile for the internal composition of clade H, but eastern Andalusians from Granada also revealed interesting traces from the eastern Mediterranean. The basal nodes of the most frequent H sub-haplogroups, H1 and H3, harbored many individuals of Iberian and Maghrebian origins. Derived haplotypes were found in both regions; haplotypes were shared far more frequently between Andalusia and Morocco than between Andalusia and the rest of the Maghreb. These and previous results indicate intense, ancient and sustained contact among populations on both sides of the Mediterranean. CONCLUSIONS: Our genetic data on mtDNA diversity, combined with corresponding archaeological similarities, provide support for arguments favoring prehistoric bonds with a genetic legacy traceable in extant populations. Furthermore, the results presented here indicate that the Strait of Gibraltar and the adjacent Alboran Sea, which have often been assumed to be an insurmountable geographic barrier in prehistory, served as a frequently traveled route between continents.

Ancient DNA analysis of 8000 B.C. near eastern farmers supports an early neolithic pioneer maritime colonization of Mainland Europe through Cyprus and the Aegean Islands.

The genetic impact associated to the Neolithic spread in Europe has been widely debated over the last 20 years. Within this context, ancient DNA studies have provided a more reliable picture by directly analyzing the protagonist populations at different regions in Europe. However, the lack of available data from the original Near Eastern farmers has limited the achieved conclusions, preventing the formulation of continental models of Neolithic expansion. Here we address this issue by presenting mitochondrial DNA data of the original Near-Eastern Neolithic communities with the aim of providing the adequate background for the interpretation of Neolithic genetic data from European samples. Sixty-three skeletons from the Pre Pottery Neolithic B (PPNB) sites of Tell Halula, Tell Ramad and Dja'de El Mughara dating between 8,700-6,600 cal. B.C. were analyzed, and 15 validated mitochondrial DNA profiles were recovered. In order to estimate the demographic contribution of the first farmers to both Central European and Western Mediterranean Neolithic cultures, haplotype and haplogroup diversities in the PPNB sample were compared using phylogeographic and population genetic analyses to available ancient DNA data from human remains belonging to the Linearbandkeramik-Alföldi Vonaldiszes Kerámia and Cardial/Epicardial cultures. We also searched for possible signatures of the original Neolithic expansion over the modern Near Eastern and South European genetic pools, and tried to infer possible routes of expansion by comparing the obtained results to a database of 60 modern populations from both regions. Comparisons performed among the 3 ancient datasets allowed us to identify K and N-derived mitochondrial DNA haplogroups as potential markers of the Neolithic expansion, whose genetic signature would have reached both the Iberian coasts and the Central European plain. Moreover, the observed genetic affinities between the PPNB samples and the modern populations of Cyprus and Crete seem to suggest that the Neolithic was first introduced into Europe through pioneer seafaring colonization.

Diagnosing Psychopathy through Emotional Regulation Tasks: Heart Rate Variability versus Implicit Association Test.

BACKGROUND: Nowadays, the assessment of psychopathy relies on semistructured interviews plus file reviews. In order to improve the predictive validity of psychopathy at the individual level, tools that are not based on the rating of signs and symptoms are in great need. SAMPLING AND METHODS: The present study was conducted in a representative sample of 204 Spanish sentenced inmates. These inmates have served at least 6 months of their sentence at the Pereiro de Aguiar (Ourense, Spain) penitentiary. Psychopathy signs and symptoms were scored through interview and file review. The Implicit Association Test (IAT) and heart rate variability (HRV) experiments were also conducted. The Iowa Gambling Task (IGT) was performed as a control measure. RESULTS: Spectral HRV indices were able to detect psychopathic inmates at a significant level, while IAT experiments and the IGT could not discriminate them. HRV indices showed a more significant difference when assessing the affective-interpersonal dimensions of psychopathy. CONCLUSIONS: An HRV experiment is better than IAT in order to detect psychopathy in a representative sample of Spanish inmates.

Human maternal heritage in Andalusia (Spain): its composition reveals high internal complexity and distinctive influences of mtDNA haplogroups U6 and L in the western and eastern side of region.

BACKGROUND: The archeology and history of the ancient Mediterranean have shown that this sea has been a permeable obstacle to human migration. Multiple cultural exchanges around the Mediterranean have taken place with presumably population admixtures. A gravitational territory of those migrations has been the Iberian Peninsula. Here we present a comprehensive analysis of the maternal gene pool, by means of control region sequencing and PCR-RFLP typing, of autochthonous Andalusians originating from the coastal provinces of Huelva and Granada, located respectively in the west and the east of the region. RESULTS: The mtDNA haplogroup composition of these two southern Spanish populations has revealed a wide spectrum of haplogroups from different geographical origins. The registered frequencies of Eurasian markers, together with the high incidence and diversification of African maternal lineages (15% of the total mitochondrial variability) among Huelva Andalusians when compared to its eastwards relatives of Granada and other Iberian populations, constitute relevant findings unknown up-to-date on the characteristics of mtDNA within Andalusia that testifies a female population substructure. Therefore, Andalusia must not be considered a single, unique population. CONCLUSIONS: The maternal legacy among Andalusians reflects distinctive local histories, pointing out the role of the westernmost territory of Peninsular Spain as a noticeable recipient of multiple and diverse human migrations. The obtained results underline the necessity of further research on genetic relationships in both sides of the western Mediterranean, using carefully collected samples from autochthonous individuals. Many studies have focused on recent North African gene flow towards Iberia, yet scientific attention should be now directed to thoroughly study the introduction of European genes in northwest Africa across the sea, in order to determine its magnitude, timescale and methods, and to compare them to those terrestrial movements from eastern Africa and southwestern Asia.

New insights into the distribution of APOE polymorphism in the Iberian Peninsula. The case of Andalusia (Spain).

BACKGROUND: The APOE gene has received much attention due to the remarkable spatial variation patterns of some of its genotypes and alleles in human populations and to its relevance in biomedicine. AIM: This work was addressed to investigate the extent of APOE polymorphism between autochthonous Andalusians originating from Huelva and Granada provinces. No data on this marker in these southern Spanish coastal populations are available up to date. SUBJECTS AND METHODS: This study used genomic DNA from healthy, unrelated Andalusians of both sexes (n = 322). All samples were genotyped for two SNPs, rs429358 and rs7412, which determine the three APOE alleles: ε2, ε3 and ε4. For analyses, a TaqMan-based technique was applied using a RT-PCR. Comparisons with other Mediterranean populations were performed based on multivariate analysis. RESULTS: A relatively high frequency of ε4 in Granada (eastern Andalusia), as well as a low ε2 frequency in Huelva (western Andalusia) were observed. The finding that ε4 allele in Southern Spain and Portugal is higher than expected given its geographical location poses an interesting question for this study, given the well-established APOE-ε4 gradient in Europe. CONCLUSION: This population study may represent useful information for further prospective anthropological and molecular genetic studies focused on unravelling the relationship between population genetic composition and specific human diseases.

Factors affecting the lactation curves of intensively managed sheep based on a clustering approach.

This study investigated factors affecting milk production and lactation curves from complete lactations of Lacaune dairy sheep. Animals were part of a single flock under intensive management and were milked twice daily starting at lambing. The results of the analyses of 7788 complete lactations showed an average total milk yield of 434±183 l from lactations 234±63 d long, with an average lambing interval of 302±65 d. A Pollott additive mathematical model was used to estimate complete lactation curves. Clustering analysis identified four lactation types among Lacaune dairy sheep differing mainly in productivity i.e. milk yield per lactation (MY) and length of lactation (DIM). The so-called SL type involved short, less productive lactations (n=2137; 27·4%; MY=222±75·5 l and DIM=182±52·9 d). The SN type involved short lactations of normal productivity (n=2039; 26·2%; MY=396±73·7 l and DIM=205±33·1 d). The LP type involved long and productive lactations (n=2169; 27·9%; MY=487±70·5 l and DIM=265±40·7 d), while the LVP type included long and extremely productive lactations (n=1443; 18·5%; MY=694±114·0 l and DIM=295±54·7 d). Sheep showing the best lactation curves were usually younger than other sheep, and they had higher yield during the previous lactation, a shorter previous dry period (55±50·4 for LP and 61±55·0 d for LVP types) and longer lambing intervals. In addition, they tended to be born in September and to lamb in March, October and December. Sheep were remarkably stable in their lactation curve behaviour: the curve type observed for the first lactation was highly likely to persist in subsequent lactations (P<0·0001). These results suggest that farmers can use the shape of the first lactation curve to guide their selection of ewes for breeding and retention on the farm, thereby improving flock productivity.

Gingival changes during pregnancy: III. Impact of clinical, microbiological, immunological and socio-demographic factors on gingival inflammation.

AIMS: To identify predictor variables involved in exacerbated gingival inflammation associated with pregnancy. MATERIAL AND METHODS: In this cohort study, 48 pregnant and 28 non-pregnant women without periodontitis were included. The pregnant women were evaluated in the first, second and third trimester and at 3 months postpartum, whilst the non-pregnant women were evaluated twice, with a 6-month interval. At each visit, clinical [plaque index (PlI) and gingival index (GI)], hormonal (salivary progesterone and estradiol), immunological [gingival crevicular fluid interleukin-1ß, interleukin-6, tumour necrosis factor-α (TNF-α) and prostaglandin-E(2) ] and microbiological (periodontal pathogens culture) evaluations were performed. Statistical analysis was undertaken using exhaustive chi-square automatic interaction detection (exhaustive CHAID) to analyse the predictive value of the independent outcomes to develop pregnancy GI. RESULTS: PlI was the strongest predictor implicated in the GI throughout pregnancy and after delivery. During the second and third trimesters the presence of Porphyromonas gingivalis significantly contributed to the worsening of gingival inflammation. When compared with the non-pregnant group, significant differences were found in TNF-α amounts and concentrations and in the third trimester site-specific GI. CONCLUSIONS: Bacterial challenge to the gingival tissues, both quantitatively (PlI) and qualitatively (harbouring P. gingivalis) appears to affect the level of gingival inflammation observed during pregnancy.

Models for forecasting airborne Cupressaceae pollen levels in central Spain.

The influence of meteorological variables on airborne Cupressaceae pollen levels in central Spain was analyzed, and prediction models based on polynomial and multiple regressions were used to predict pollen counts throughout the pollen season. The Cupressaceae pollen type was selected in view of both its abundance in the atmosphere of the central Iberian Peninsula (particularly from January to March) and its allergenic importance. Sampling was performed uninterruptedly over a 5-year period, using a Hirst volumetric sampler and the sampling method established by the Spanish Aerobiology Network. Temperature displayed the strongest (positive) correlation with Cupressaceae pollen counts. Polynomial and multiple regression analysis showed that maximum temperature was the most influential variable included in prediction models. The prediction equations obtained for the study period were reasonably satisfactory, accounting for 48% and 59% of the variation in airborne pollen levels.

Searching the peopling of the Iberian Peninsula from the perspective of two andalusian subpopulations: a study based on Y-chromosome haplogroups J and E.

This study aims at a high-resolution analysis of Y-chromosome J and E haplogroups among Andalusians to reconstruct Neolithic, protohistorical and historical migrations in the Mediterranean region. Genotyping of two samples from Granada (n=250 males) and Huelva (n=167 males) (Spain) with Y-chromosome binary and microsatellite markers was performed, and the results compared with other Mediterranean populations. The two samples showed genetic differences that can be associated with different evolutionary processes. Migrations toward Andalusia probably originated in the Arabian Peninsula, Fertile Crescent, Balkan region and North Africa, and they would have predominantly occurred in protohistoric and historic times. Maritime travel would have notably contributed to recent gene flow into Iberia. This survey highlight the complexity of the Mediterranean migration processes and demonstrate the impact of the different population sources on the genetic composition of the Spanish population. The main in-migrations to Iberia most likely did not occur through intermediate stages or, if such stages did occur, they would have been very few.

Surnames and Y-chromosomal markers reveal low relationships in Southern Spain.

A sample of 416 males from western and eastern Andalusia has been jointly analyzed for surnames and Y-chromosome haplogroups and haplotypes. The observed number of different surnames was 222 (353 when the second surname of the Spanish system of naming is considered). The great majority of recorded surnames have a Castilian-Leonese origin, while Catalan or Basque surnames have not been found. A few Arab-related surnames appear but none discernible of Sephardic-Jewish descent. Low correlation among surnames with different population frequencies and Y-chromosome markers, at different levels of genetic resolution, has been observed in Andalusia. This finding could be explained mainly by the very low rate of monophyletic surnames because of the historical process of surname ascription and the resulting high frequencies of the most common Spanish surnames. The introduction of surnames in Spain during the Middle Ages coincided with Reconquest of the territories under Islamic rule, and Muslims and Jews progressively adopted the present male line surname system. Sampled surnames and Y-chromosome lineages fit well a power-law distribution and observed isonymy is very close to that of the general population. Besides, our data and results show that the reliability of the isonymy method should be questioned because of the high rate of polyphyletic surnames, even in small geographic regions and autochthonous populations. Random isonymy would be consistently dependent of the most common surname frequencies in the population.

Detection of premature ventricular contractions using the RR-interval signal: a simple algorithm for mobile devices.

BACKGROUND: Premature ventricular contractions (PVCs) are cardiac abnormalities that may occur in subjects with/without cardiovascular disorder. Detection is usually performed from electrocardiograms (ECGs); heart activity for a long period of time must be recorded at hospital or with ambulatory electrocardiography. An alternative with a common mobile device would be very interesting, because a simple heart rate sensor should be sufficient. OBJECTIVE: To develop an algorithm to detect PVCs using the RR-interval (distance between consecutive beats) extracted from ECGs or from the heart rate signal captured by mobile devices. METHODS: Feature extraction and classification techniques were included: 1) two timing interval features (prematurity and compensatory pause) were extracted. 2) A linear classifier was applied. To validate the method, the MIT-BIH Arrhythmia Database was used. Considering the existence of unbalanced classes (normal beats and PVCs) at different decision costs, validation was performed with receiver operating characteristic (ROC) analysis. RESULTS: A sensitivity of 90.13% and a specificity percentage of 82.52% were achieved. The area under the ROC curve (AUC) was 0.928. CONCLUSIONS: The method is advantageous since it only uses the RR-interval signal for PVC detection, and results compare well with more complex methods that use ECG recording.