Mass independent fractionation of mercury isotopes as source tracers in sediments

Since the discovery of isotopic fractionation of mercury in nature, mass dependent fractionation (MDF) and mass independent fractionation (MIF) of mercury isotopes are used as a tracer to understand the mercury cycle. MIF is a powerful tool in understanding the Hg transformations and reaction mechanisms. Here we look into the MIF of the two odd isotopes of mercury (¹⁹⁹Hg and ²⁰¹ Hg) in sediment samples collected from lakes and springs of Florida, Lake Erie, and Yucatan Peninsula. The Δ¹⁹⁹Hg and Δ²⁰¹ Hg of the sediments range from + 0.52‰ to -0.48‰. From the isotopic signature we interpret the possible source of Hg in the Yucatan Peninsula carbonate to be Hg(II) from the water column. Hg in the Florida lakes and spring sediments primarily comes from litterfall. Lake Erie appears to have an anthropogenic source. This study suggests that the MIF signature of Hg isotopes can be used to qualitatively determine the primary source(s) of Hg in sediments.final article publishedJournal Articl

Control of human hemoglobin switching by LIN28B-mediated regulation of BCL11A translation

Increased production of fetal hemoglobin (HbF) can ameliorate the severity of sickle cell disease and β-thalassemia1. BCL11A represses the genes encoding HbF and regulates human hemoglobin switching through variation in its expression during development2–7. However, the mechanisms underlying the developmental expression of BCL11A remain mysterious. Here we show that BCL11A is regulated at the level of messenger RNA (mRNA) translation during human hematopoietic development. Despite decreased BCL11A protein synthesis earlier in development, BCL11A mRNA continues to be associated with ribosomes. Through unbiased genomic and proteomic analyses, we demonstrate that the RNA-binding protein LIN28B, which is developmentally expressed in a pattern reciprocal to that of BCL11A, directly interacts with ribosomes and BCL11A mRNA. Furthermore, we show that BCL11A mRNA translation is suppressed by LIN28B through direct interactions, independently of its role in regulating let-7 microRNAs, and that BCL11A is the major target of LIN28B-mediated HbF induction. Our results reveal a previously unappreciated mechanism underlying human hemoglobin switching that illuminates new therapeutic opportunities.National Institutes of Health (Grants U01 HL117720, R01 DK103794, R33 HL120791 and P01 DK32094

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

International audienceSplit-hand-split-foot malformation (SHFM) is a rare condition that occurs in 1 in 8500-25,000 newborns and accounts for 15% of all limb reduction defects. SHFM is heterogeneous and can be isolated, associated with other malformations, or syndromic. The mode of inheritance is mostly autosomal dominant with incomplete penetrance, but can be X-linked or autosomal recessive. Seven loci are currently known: SHFM1 at 7q21.2q22.1 (DLX5 gene), SHFM2 at Xq26, SHFM3 at 10q24q25, SHFM4 at 3q27 (TP63 gene), SHFM5 at 2q31 and SHFM6 as a result of variants in WNT10B (chromosome 12q13). Duplications at 17p13.3 are seen in SHFM when isolated or associated with long bone deficiency. Tandem genomic duplications at chromosome 10q24 involving at least the DACTYLIN gene are associated with SHFM3. No point variant in any of the genes residing within the region has been identified so far, but duplication of exon 1 of the BTRC gene may explain the phenotype, with likely complex alterations of gene regulation mechanisms that would impair limb morphogenesis. We report on 32 new index cases identified by array-CGH and/or by qPCR, including some prenatal ones, leading to termination for the most severe. Twenty-two cases were presenting with SHFM and 7 with monodactyly only. Three had an overlapping phenotype. Additional findings were identified in 5 (renal dysplasia, cutis aplasia, hypogonadism and agenesis of corpus callosum with hydrocephalus). We present their clinical and radiological findings and review the literature on this rearrangement that seems to be one of the most frequent cause of SHFM

Human effects on ecological connectivity in aquatic ecosystems: Integrating scientific approaches to support management and mitigation

Understanding the drivers and implications of anthropogenic disturbance of ecological connectivity is a key concern for the conservation of biodiversity and ecosystem processes. Here, we review human activities that affect the movements and dispersal of aquatic organisms, including damming of rivers, river regulation, habitat loss and alteration, human-assisted dispersal of organisms and climate change. Using a series of case studies, we show that the insight needed to understand the nature and implications of connectivity, and to underpin conservation and management, is best achieved via data synthesis from multiple analytical approaches. We identify four key knowledge requirements for progressing our understanding of the effects of anthropogenic impacts on ecological connectivity: autecology; population structure; movement characteristics; and environmental tolerance/phenotypic plasticity. Structuring empirical research around these four broad data requirements, and using this information to parameterise appropriate models and develop management approaches, will allow for mitigation of the effects of anthropogenic disturbance on ecological connectivity in aquatic ecosystems. (C) 2015 Elsevier B.V. All rights reserved