Microbially mediated carbonates in the Holocene deposits from Sarliève, a small ancient lake of the French Massif Central, testify to the evolution of a restricted environment

International audienceBoth the mineralogy and facies of lacustrine bio-induced carbonates are controlled largely by hydrological factors that are highly dependent upon climatic influence. As such they are useful tools in characterizing ancient lake environments. In this way, the study of the sedimentary record from the small ancient Sarlie've Lake (Limagne, Massif Central, France) aims to reconstruct the hydrological evolution during the Holocene, using petrographical, mineralogical and geochemical analyses. The fine-grained marls, mainly calcitic, display numerous layers rich in pristine Ca-dolomite, with small amounts of aragonite, which are clearly utochthonous. As these minerals are rather unusual in the temperate climatic context of western Europe, the question arises about their forming conditions, and therefore that of the lacustrine environment. Ca-dolomite prevails at the base of the sequence as a massive dolomicrite layer and, in the middle part, it builds up most of the numerous laminae closely associated with organic matter. Scanning electron microscope observations reveal the abundance of tiny crystals (tens to hundreds of nanometres) mainly organized as microspheres looking like cocci or bacilli. Such a facies is interpreted as resulting from the fossilization of benthic microbial communities by dolomite precipitation following organic matter consumption and extracellular polymeric substance degradation. These microbial dolomites were precipitated in a saline environment, as a consequence of excess evaporation from the system, as is also suggested by their positive ¶18O values. The facies sequence expresses the following evolution: (i) saline pan, i.e. endorheic stage with a perennial lowstand in lake level (Boreal to early Atlantic periods); (ii) large fluctuations in lake level with sporadic freshening of the system (Atlantic); (iii) open lake stage (sub-boreal); and (iv) anthropogenic drainage (sub-Atlantic)

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Background: Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes accompanied by polydactyly, and renal, liver and retinal disease. Mutations in intraflagellar transport (IFT) genes cause JATD, including the IFT dynein-2 motor subunit gene DYNC2H1. Genetic heterogeneity and the large DYNC2H1 gene size have hindered JATD genetic diagnosis.Aims and methods: to determine the contribution to JATD we screened DYNC2H1 in 71 JATD patients JATD patients combining SNP mapping, Sanger sequencing and exome sequencing.Results and conclusions: we detected 34 DYNC2H1 mutations in 29/71 (41%) patients from 19/57 families (33%), showing it as a major cause of JATD especially in Northern European patients. This included 13 early protein termination mutations (nonsense/frameshift, deletion, splice site) but no patients carried these in combination, suggesting the human phenotype is at least partly hypomorphic. In addition, 21 missense mutations were distributed across DYNC2H1 and these showed some clustering to functional domains, especially the ATP motor domain. DYNC2H1 patients largely lacked significant extra-skeletal involvement, demonstrating an important genotype–phenotype correlation in JATD. Significant variability exists in the course and severity of the thoracic phenotype, both between affected siblings with identical DYNC2H1 alleles and among individuals with different alleles, which suggests the DYNC2H1 phenotype might be subject to modifier alleles, non-genetic or epigenetic factors. Assessment of fibroblasts from patients showed accumulation of anterograde IFT proteins in the ciliary tips, confirming defects similar to patients with other retrograde IFT machinery mutations, which may be of undervalued potential for diagnostic purpose