Mutations of the ret protooncogene in German multiple endocrine neoplasia families: Relation between genotype and phenotype.

It has been suggested that not only the position but also the nature of the mutations of the ret protooncogene strongly correlate with the clinical manifestation of the multiple endocrine neoplasm type 2 (MEN 2) syndrome. In particular, individuals with a Cys634-Arg substitution should have a greater risk of developing parathyroid disease. We, therefore, analyzed 94 unrelated families from Germany with inherited medullary thyroid carcinoma (MTC) for mutation of the ret protooncogene. In all but 1 of 59 families with MEN 2A, germline mutations in the extracellular domain of the ret protein were found. Some 81% of the MEN 2A mutations affected codon 634. Phenotype-genotype correlations suggested that the prevalence of pheochromocytoma and hyperparathyroidism is significantly higher in families with codon 634 mutations, but there was no correlation with the nature of the mutation. In all but 1 of 27 familial MTC (FMTC) families, mutations were detected in 1 of 4 cysteines in the extracellular domain of the ret protooncogene. Half of the FMTC mutations affected codon 634. Mutations outside of codon 634 occurred more often in FMTC families than in MEN 2A families. In all but 1 of 8 MEN 2B patients, de novo mutations in codon 918 were found. These data confirm the preferential localization of MEN 2-associated mutations and the correlation between disease phenotype and the position of the ret mutation, but there was no correlation between the occurrence of hyperparathyroidism or pheochromocytoma and the nature of the mutation

The inventory of geological heritage of the state of São Paulo, Brazil: Methodological basis, results and perspectives

An inventory of geological sites based on solid and clear criteria is a first step for any geoconservation strategy. This paper describes the method used in the geoheritage inventory of the State of São Paulo, Brazil, and presents its main results. This inventory developed by the geoscientific community aimed to identify geosites with scientific value in the whole state, using a systematic approach. All 142 geosites representative of 11 geological frameworks were characterised and quantitatively evaluated according to their scientific value and risk of degradation, in order to establish priorities for their future management. An online database of the inventory is under construction, which will be available to be easily consulted and updated by the geoscientific community. All data were made available to the State Geological Institute as the backbone for the implementation of a future state geoconservation strategy.The authors acknowledge the Science Without Borders Programme, Process 075/2012, which supported this study and the São Paulo Research Foundation (FAPESP), Process 2011/17261-6. We also thanks C. Mazoca for his help with maps and figures.info:eu-repo/semantics/acceptedVersio

Geochemistry and Sr, Nd, Pb isotopic composition of the Central Atlantic Magmatic Province (CAMP) in Guyana and Guinea

IF=3.303info:eu-repo/semantics/publishe

Refinement of the time-space evolution of the giant Mio-Pliocene Rio Blanco-Los Bronces porphyry Cu-Mo cluster, Central Chile: new U-Pb (SHRIMP II) and Re-Os geochronology and 40Ar/39Ar thermochronology data

Representing one of the largest known (estimated >5 Gt at 1 % Cu and 0. 02 % Mo) porphyry system, the Río Blanco-Los Bronces deposit incorporates at least five hypabyssal intrusive and hydrothermal centres, extending for about 5 km from the Río Blanco

Zircon trace element and O-Hf isotope analyses of mineralized intrusions from El teniente ore deposit, chilean andes: Constraints on the source and magmatic evolution of porphyry Cu-Mo related magmas

Intrusive rocks related to porphyry copper mineralization are part of the wide diversity of subduction-related, mantle-derived, igneous rocks generated in convergent margin settings. What differentiates them from barren igneous rocks results ultimately from the multi-component and multi-stage processes that condition magma composition in these settings. Unfortunately, the petrogenetic history is largely obscured by the pervasive alteration that affects rocks in these deposits. We address this issue through the study of zircon grains from El Teniente, one of the largest known porphyry Cu-Mo deposits in the world. El Teniente belongs to the Miocene-Pliocene Cu-Mo belt of the Central Chilean Andes, which formed in a short timespan during the Cenozoic constructive period of the orogen. Previously U-Pb dated zircon grains were selected for re-examination of their morphological characteristics and in situ analysis of chemical (rare earth element, Hf, Y and Ti contents) and isotopic (Hf, O) composition. They are from six intermediate to felsic syn- to late-mineralization, intrusive units covering a timespan of ~1·6 Myr. The El Teniente zircons have compositional and morphological characteristics indicating crystallization from a series of cogenetic melts. However, a minor hydrothermal imprint is documented in the presence of crystals with mottled surfaces that correspond to thin high U-Th overgrowth rims (low-luminescent features in cathodoluminescence images). In terms of any other chemical and isotopic characteristic, these are indistinguishable from the main mineral populations. Zircons define morphological and chemical trends reflecting an evolution towards more differentiated magma compositions, lower crystallization temperatures and increased cooling rates with decreasing age of intrusion. Hf and O isotopic compositions are remarkably uniform at grain, sample and deposit scale. This, together with the general absence of older inherited zircon components, the lack of correlations between isotopic signature and whole-rock composition and high initial ε Hf values (total average 7·4 ± 1·2; 2σ), rules out involvement of any significant crustal contamination in the genesis of the El Teniente magmas. The Hf isotopic composition indicates a relatively juvenile source, but with some crustal residence time. The δ 18O Zrc weighted mean of 4·76 ± 0·12‰ (2σ; 61 analyses) is at the lower limit of the normal mantle zircon range of 5·3 ± 0·6‰ (2σ), and might reflect crystallization from low- 18O magmas. Hf isotopic compositions have a restricted range in initial ε Hf values between +6 and +10, identical to preceding Cenozoic barren magmatic activity in Central Chile. These igneous rocks are the product of nearly 25 Myr of subduction-related magmatic activity, developed under contrasting tectonic regimes and margin configurations. This suggests a primary control of the isotopic signature by a stable long-lived MASH-type (melting, assimilation, storage and homogenization) reservoir in the deep lithosphere. In the context of the Cenozoic evolution of Central Chile we argue that dehydration melting in the enriched MASH reservoir occurred as a consequence of increasing crustal thickness, and was prompted by a high-temperature thermal regime resulting from long-lasting preceding magmatism. This process can also fractionate O to generate low- 18O magmas. At the time of El Teniente formation, dehydration melting occurred coevally with arc migration, which probably influenced the fertility of the magmas by increasing the melt component derived from this process relative to the component derived from primary basalt differentiation. At a regional scale, such reactions are expected to occur as a consequence of progressive crustal thickening during the constructive period of the Andes, and can explain the simultaneous generation of porphyry deposits in the Miocene-Pliocene Cu-Mo belt of Central Chile

Isotopic shifts in the cenozoic andean arc of central chile: Records of an evolving basement throughout cordilleran arc mountain building

The analysis of new and published Hf and Nd isotopic data of late Cenozoic Andean arc igneous rocks from central Chile, coupled with our improved knowledge of orogenic processes in the region, reveals a tight link between major magmatic isotopic shifts a

Magmatic and hydrothermal chronology of the giant Rio Blanco porphyry copper deposit, central Chile: Implications of an integrated U-Pb and Ar-40/Ar-39 database

The history of hypabyssal intrusion and hydrothermal activity in the northeastern and central parts of the behemothian (sensu Clark, 1993) Río Blanco-Los Bronces porphyry copper-molybdenum deposit is clarified on the basis of integrated U-Pb and 40Ar/ 3

Paleomagnetism of Permo-Triassic and Cretaceous rocks from the Antofagasta region, northern Chile

International audienceNew paleomagnetic data from Permo-Triassic and Late Cretaceous rocks yield a consistent trend of vertical-axis-tectonic-rotations which are consistent with the Central Andean Rotation Pattern (CARP). However, three sites in the Tuina Formation and one site in the Purilactis Group record large rotations (80°). These mayor rotations are probably due to dextral-transpressive deformation occurring in close relation with the Incaic tectonic phase. Consequently, it is possible to infer that previous tectonic phases Peruvian and K-T would not have produced significant tectonic rotations in the area