Structural control on present-day topography of a basement massif: the Central and Eastern Anti-Atlas (Morocco)

The Anti-Atlas basement massif extends South of the High Atlas, and, despite a very mild Cenozoic deformation, its altitude exceeds 1500m in large areas, reaching 3305m in Jbel Sirwa. Structural contours of the present elevation of a polygenic planation surface (the High Erosional surface) and of the base of Cretaceous and Neogene inliers have been performed to characterize the major tectonic structures. Gentle Cenozoic WSW-ENE- and N-Strending folds, of 60 to100km wavelength, reactivate Variscan structures, being the major contributors to the local topography of the Anti-Atlas. Reactivated thrusts of decakilometric to kilometric-scale and E-W trend involving the Neogene rocks exhibit a steep attitude and a small displacement, but they also produce a marked topographic expression. The resulting Cenozoic horizontal shortening along N-S sections across the Anti-Atlas is about 1%. The position of the major anticlinal hinges determines the location of the fluvial divides of the Warzazat basin and the Anti-Atlas, and a structural depression on one of these hinges (Jbel Saghro anticline) allowed the formerly endorheic Warzazat basin to drain southwards. The first Cenozoic structures generating local topography are of pre-mid Miocene age (postdated by 6.7Ma volcanic rocks at the Jbel Saghro), whereas the youngest thrust movements postdate the Pliocene sedimentary and volcanic rocks (involving 2.1Ma volcanic rocks at Jbel Sirwa). In addition to these features, the mean elevation of the Anti-Atlas at the regional scale is also the result of a mantle thermal anomaly reported in previous works for the entire Atlas system.

El procedimiento de declaración-liquidación. Naturaleza jurídica y regulación en el Impuesto sobre Sucesiones y Donaciones

El Ministerio de Economía y Hacienda elaboró el Real Decreto 422/88 de 29 de abril sobre la gestión y liquidación del Impuesto sobre Sucesiones y Donaciones. Recapitulando las distintas posiciones que por cuanto a la naturaleza de las autoliquidaciones se han definido en la doctrina, se pretende en este trabajo apuntar las novedades que contiene el Decreto.

Association between parental history and genetic risk scores for coronary heart disease prediction: The population-based CoLaus study.

BACKGROUND AND AIMS: Parental history (PH) and genetic risk scores (GRSs) are separately associated with coronary heart disease (CHD), but evidence regarding their combined effects is lacking. We aimed to evaluate the joint associations and predictive ability of PH and GRSs for incident CHD. METHODS: Data for 4283 Caucasians were obtained from the population-based CoLaus Study, over median follow-up time of 5.6 years. CHD was defined as incident myocardial infarction, angina, percutaneous coronary revascularization or bypass grafting. Single nucleotide polymorphisms for CHD identified by genome-wide association studies were used to construct unweighted and weighted versions of three GRSs, comprising of 38, 53 and 153 SNPs respectively. RESULTS: PH was associated with higher values of all weighted GRSs. After adjustment for age, sex, smoking, diabetes, systolic blood pressure, low and high density lipoprotein cholesterol, PH was significantly associated with CHD [HR 2.61, 95% CI (1.47-4.66)] and further adjustment for GRSs did not change this estimate. Similarly, one standard deviation change of the weighted 153-SNPs GRS was significantly associated with CHD [HR 1.50, 95% CI (1.26-1.80)] and remained so, after further adjustment for PH. The weighted, 153-SNPs GRS, but not PH, modestly improved discrimination [(C-index improvement, 0.016), p = 0.048] and reclassification [(NRI improvement, 8.6%), p = 0.027] beyond cardiovascular risk factors. After including both the GRS and PH, model performance improved further [(C-index improvement, 0.022), p = 0.006]. CONCLUSION: After adjustment for cardiovascular risk factors, PH and a weighted, polygenic GRS were jointly associated with CHD and provided additive information for coronary events prediction.

Timing and nature of alluvial fan and strath terrace formation in the Eastern Precordillera of Argentina

Sixty-eight 10Be terrestrial cosmogenic nuclide (TCN) surface exposure ages are presented to define the timing of alluvial fan and strath terrace formation in the hyper-arid San Juan region of the Argentine Precordillera. This region is tectonically active, and numerous fault scarps traverse Quaternary landforms. The three study sites, Marquesado strath complex, Loma Negra alluvial fan and Carpintería strath complex reveal a history of alluvial fan and strath terrace development over the past w225 ka. The Marquesado complex Q3m surface dates to w17 3 ka, whereas the Loma Negra Q1ln, Q2ln, Q3ln, Q4ln, and Q5ln surfaces date to w24 3 ka, w48 2 ka, w65 13 ka, w105 21 ka, and w181 29 ka, respectively. The Carpintería complex comprises eight surfaces that have been dated and include the Q1c (w23 3 ka), Q2c (w5 5 ka), Q3ac (w25 12 ka), Q3bc (w29 15 ka), Q4c (w61 12 ka), Q5c (w98 18 ka), Q6c (w93 18 ka), and Q7c (w212 37 ka). 10Be TCN depth profile data for the Loma Negra alluvial fan complex and Carpintería strath terrace complex, as well as OSL ages on some Carpintería deposits, aid in refining surface ages for comparison with local and global climate proxies, and additionally offer insights into inheritance and erosion rate values for TCNs (w10 104 10Be atoms/g of SiO2 and w5 m Ma 1, respectively). Comparison with other alluvial fan studies in the region show that less dynamic and older preserved surfaces occur in the Carpintería and Loma Negra areas with only younger alluvial fan surfaces preserved both to the north and south. These data in combination with that of other studies illustrate broad regional agreement between alluvial fan and strath terrace ages, which suggests that climate is the dominant forcing agent in the timing of terrace formation in this region.

Compound Heterozygous VSX2 Mutation Causing Bilateral Anophthalmia in a Consanguineous Egyptian Family

Purpose: To report the clinical and genetic study of a child with bilateral anophthalmia. Methods: A 14-year-old Egyptian boy, born from consanguineous parents, underwent a general and a full ophthalmological examination. Mutation screen of the A/M genes with recessive inheritance was done stepwise and DNA was analyzed by Sanger sequencing. Results: Bilateral anophthalmia, arachnodactyly of the feet and high arched palate were observed on general examination. The parents were first cousins and healthy. Sequencing analysis revealed a novel compound heterozygous mutation in one of the copy of exon 2 of VSX2 and a possible deletion of at least exon 2 on the other allele. Conclusions: A compound heterozygous VSX2 mutation associated with anophthalmia was identified in a patient from an Egyptian consanguineous family. This report brings the number of VSX2 mutation in anophthalmia/microphthalmia (A/M) to 13. Functional consequences of the reported changes still need to be characterized, as well as the percentage of A/M caused by mutations in the VSX2 gene. This family also shows that despite consanguinity, heterozygous mutations can also happen and one should not restrict the molecular analysis to homozygous mutations.

Corneal Dystrophies: Overview and Summary.

In this chapter, I shall discuss the genetics, mode of inheritance and molecular origin of several corneal dystrophies.

Impact of a cis-associated gene expression SNP on chromosome 20q11.22 on bipolar disorder susceptibility, hippocampal structure and cognitive performance.

BackgroundBipolar disorder is a highly heritable polygenic disorder. Recent enrichment analyses suggest that there may be true risk variants for bipolar disorder in the expression quantitative trait loci (eQTL) in the brain.AimsWe sought to assess the impact of eQTL variants on bipolar disorder risk by combining data from both bipolar disorder genome-wide association studies (GWAS) and brain eQTL.MethodTo detect single nucleotide polymorphisms (SNPs) that influence expression levels of genes associated with bipolar disorder, we jointly analysed data from a bipolar disorder GWAS (7481 cases and 9250 controls) and a genome-wide brain (cortical) eQTL (193 healthy controls) using a Bayesian statistical method, with independent follow-up replications. The identified risk SNP was then further tested for association with hippocampal volume (n = 5775) and cognitive performance (n = 342) among healthy individuals.ResultsIntegrative analysis revealed a significant association between a brain eQTL rs6088662 on chromosome 20q11.22 and bipolar disorder (log Bayes factor = 5.48; bipolar disorder P = 5.85×10(-5)). Follow-up studies across multiple independent samples confirmed the association of the risk SNP (rs6088662) with gene expression and bipolar disorder susceptibility (P = 3.54×10(-8)). Further exploratory analysis revealed that rs6088662 is also associated with hippocampal volume and cognitive performance in healthy individuals.ConclusionsOur findings suggest that 20q11.22 is likely a risk region for bipolar disorder; they also highlight the informative value of integrating functional annotation of genetic variants for gene expression in advancing our understanding of the biological basis underlying complex disorders, such as bipolar disorder.

Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome: a Review of the Pathogenesis.

PFAPA syndrome represents the most common cause of recurrent fever in children in European populations, and it is characterized by recurrent episodes of high fever, pharyngitis, cervical adenitis, and aphthous stomatitis. Many possible causative factors have been explored so far, including infectious agents, immunologic mechanisms and genetic predisposition, but the exact etiology remains unclear. Recent findings demonstrate a dysregulation of different components of innate immunity during PFAPA flares, such as monocytes, neutrophils, complement, and pro-inflammatory cytokines, especially IL-1β, suggesting an inflammasome-mediated innate immune system activation and supporting the hypothesis of an autoinflammatory disease. Moreover, in contrast with previous considerations, the strong familial clustering suggests a potential genetic origin rather than a sporadic disease. In addition, the presence of variants in inflammasome-related genes, mostly in NLRP3 and MEFV, suggests a possible role of inflammasome-composing genes in PFAPA pathogenesis. However, none of these variants seem to be relevant, alone, to its etiology, indicating a high genetic heterogeneity as well as an oligogenic or polygenic genetic background.

Cleidocranial dysostosis: a report on two familial cases

Cleidocranial dysostosis is a rare genetic syndrome with an autosomal dominant inheritance pattern. The most common manifestations include clavicular aplasia or hypoplasia, open fontanelles and abnormal dentition. The present report describes two familial cases whose late diagnosis was made by means of clinical and radiographic findings. The treatment was radical, with complete surgical teeth extraction and making of total dental prosthesis.

Lateral gene exchanges shape the genomes of amoeba-resisting microorganisms.

Based on Darwin's concept of the tree of life, vertical inheritance was thought to be dominant, and mutations, deletions, and duplication were streaming the genomes of living organisms. In the current genomic era, increasing data indicated that both vertical and lateral gene inheritance interact in space and time to trigger genome evolution, particularly among microorganisms sharing a given ecological niche. As a paradigm to their diversity and their survival in a variety of cell types, intracellular microorganisms, and notably intracellular bacteria, were considered as less prone to lateral genetic exchanges. Such specialized microorganisms generally have a smaller gene repertoire because they do rely on their host's factors for some basic regulatory and metabolic functions. Here we review events of lateral gene transfer (LGT) that illustrate the genetic exchanges among intra-amoebal microorganisms or between the microorganism and its amoebal host. We tentatively investigate the functions of laterally transferred genes in the light of the interaction with their host as they should confer a selective advantage and success to the amoeba-resisting microorganisms (ARMs).

Concepts in plant disease resistance

Resistance to nearly all pathogens occurs abundantly in our crops. Much of the resistance exploited by breeders is of the major gene type. Polygenic resistance, although used much less, is even more abundantly available. Many types of resistance are highly elusive, the pathogen apparently adapting very easily them. Other types of resistance, the so-called durable resistance, remain effective much longer. The elusive resistance is invariably of the monogenic type and usually of the hypersensitive type directed against specialised pathogens. Race-specificity is not the cause of elusive resistance but the consequence of it. Understanding acquired resistance may open interesting approaches to control pathogens. This is even truer for molecular techniques, which already represent an enourmously wide range of possibilities. Resistance obtained through transformation is often of the quantitative type and may be durable in most cases.

Genetic linkage map of Phaseolus vulgaris and identification of QTLs responsible for resistance to Xanthomonas axonopodis pv. phaseoli

Common bean (Phaseolus vulgaris) cultivars with a high degree of resistance to Xanthomonas axonopodis pv. phaseoli (Xap) are not available in Brazil. Despite many studies, a low degree of resistance to Xap continues to exist due to its complex genetic inheritance, which is not well known. The objectives of this research were to complement a common bean genetic map based on the cross between a susceptible genotype 'HAB-52' and a resistant genotype 'BAC-6', and to map and analyze genomic regions (quantitative trait loci – QTLs) related to Xap resistance. Eleven linkage groups were determined using 143 RAPD markers, covering 1,234.5 cM of the genome. This map was used to detect QTLs associated with Xap resistance on leaves and pods. The averages of disease severity on leaves (represented by the transformed disease index – TDI) and pods (represented by the diameter of lesion on pods – DLP) were added to the data of the linkage map. Five TDI QTLs and only one LDP QTL were detected. The TDI QTLs were placed in the A, B, G and J linkage groups, with phenotypic variations ranging from 12.7 to 71.6%. The DLP QTL explained 12.9% of the phenotypic variation and was mapped in a distinct linkage group. These results indicate that there are different genes involved in the control of resistance on leaves and pods.

Heritability at family mean level

Based on a polygenic system of a diploid species, without epistasis, and a population in Hardy-Weinberg equilibrium, without inbreeding and under linkage equilibrium, it can be shown that: (1) the narrow sense heritability at half-sib family level is equal to the square of the correlation coefficient between family mean and the additive genetic value of its common parent; (2) the narrow sense heritability at full-sib family level is equal to the square of the correlation coefficient between family mean and the mean of the additive genetic values of its parents; (3) the narrow sense heritability at Sn family level is exactly equal to the square of the correlation coefficient between family mean and the additive genetic value of its parent only in absence of dominance or when allele frequencies are equal; and (4) the broad sense heritability at full-sib or Sn family level can be used to analyze selection efficiency, since the progeny genotypic mean is, in general, a good indicator of parents, or Sn-1 plant superiority with respect to the frequency of favorable genes.

Sukupolvenvaihdoksen toteuttaminen henkilöyhtiössä

Tutkielma on kvalitatiivinen tutkimus, jossa pääpaino perustuu kirjallisuus- ja oikeustapaustutkimukseen. Tutkielman tavoitteena on selvittää henkilöyhtiön sukupolvenvaihdoksen toteuttamisen vaihtoehdot sekä henkilöyhtiön yhtiöosuuksien luovutuksena että yhtiömuodon muutoksella, jolloin henkilöyhtiö muutetaan ensin osakeyhtiöksi ja sen jälkeen osakeyhtiö voi jakautua. Perheyrityksen sukupolvenvaihdoksen ja siihen liittyvien veroseuraamusten optimointi edellyttää suunnitelmallista prosessia, missä otetaan huomioon eri toteutusvaihtoehtojen verotuksellinen kohtelu sekä luopujien että jatkajien kannalta. Perheen sisällä tapahtuvat sukupolvenvaihdokset tapahtuvat useimmiten lahjana tai lahjanluonteisena kauppana, jolloin perintö- ja lahjaverotus on tarpeen ottaa huomioon jo suunnitteluvaiheessa. Yritysvarallisuuden arvostaminen perintö- ja lahjaverotuksessa sekä sukupolvenvaihdoksen yhteydessä saatavat verohuojennukset ja niiden huomioon ottaminen ovat tärkeitä tekijöitä. Tutkielman case- yrityksessä luopujien ja jatkajien tarpeet huomioiden yhtiömuodon muutos ja jakautuminen voitiin todeta kannattavimmaksi vaihtoehdoksi.