Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

EXTL3 regulates the biosynthesis of heparan sulfate (HS), important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs). By whole-exome sequencing, we identified homozygous missense mutations c.1382C>T, c.1537C>T, c.1970A>G, and c.2008T>G in EXTL3 in nine affected individuals from five unrelated families. Notably, we found the identical homozygous missense mutation c.1382C>T (p.Pro461Leu) in four affected individuals from two unrelated families. Affected individuals presented with variable skeletal abnormalities and neurodevelopmental defects. Severe combined immunodeficiency (SCID) with a complete absence of T cells was observed in three families. EXTL3 was most abundant in hematopoietic stem cells and early progenitor T cells, which is in line with a SCID phenotype at the level of early T cell development in the thymus. To provide further support for the hypothesis that mutations in EXTL3 cause a neuro-immuno-skeletal dysplasia syndrome, and to gain insight into the pathogenesis of the disorder, we analyzed the localization of EXTL3 in fibroblasts derived from affected individuals and determined glycosaminoglycan concentrations in these cells as well as in urine and blood. We observed abnormal glycosaminoglycan concentrations and increased concentrations of the non-sulfated chondroitin disaccharide D0a0 and the disaccharide D0a4 in serum and urine of all analyzed affected individuals. In summary, we show that biallelic mutations in EXTL3 disturb glycosaminoglycan synthesis and thus lead to a recognizable syndrome characterized by variable expression of skeletal, neurological, and immunological abnormalities

Occurrence of aquatic invertebrates of the wheatbelt region of Western Australia in relation to salinity

The wheatbelt region of Western Australia has been extensively cleared of indigenous vegetation for agriculture and is now severely affected by dryland salinity. Wetlands that were once freshwater are now saline and others are under threat, as are the animals and plants that inhabit them. Rising groundwater is also affecting the many naturally saline playas. To provide a framework for setting conservation priorities in this region a biological survey was undertaken, including sampling of aquatic invertebrates at 230 wetlands. In this paper, we have used data from the survey to summarise occurrence of species in relation to salinity. Total species richness at a wetland showed no response to salinity below 4.1 g l)1 and then declined dramatically as salinity increased. When halophilic species were excluded from consideration, species richness was found to decline from 2.6 g l)1. These patterns are compared to previous studies of richnesssalinity relationships. There is some evidence that the freshwater invertebrate fauna of the wheatbelt may be comparatively salt tolerant, with 46% of freshwater species collected at salinities above 3 g l)1 and 17% above 10 g l)1, though these proportions differed between various invertebrate groups. While this tolerance will provide a buffer against the effects of mild salinisation, many species are at risk of regional extinction as salinisation becomes more widespread.Adrian M. Pinder, Stuart A. Halse, Jane M. McRae & Russell J. Shie

Author Correction: The FLUXNET2015 dataset and the ONEFlux processing pipeline for eddy covariance data (Scientific Data, (2020), 7, 1, (225), 10.1038/s41597-020-0534-3)

The following authors were omitted from the original version of this Data Descriptor: Markus Reichstein and Nicolas Vuichard. Both contributed to the code development and N. Vuichard contributed to the processing of the ERA-Interim data downscaling. Furthermore, the contribution of the co-author Frank Tiedemann was re-evaluated relative to the colleague Corinna Rebmann, both working at the same sites, and based on this re-evaluation a substitution in the co-author list is implemented (with Rebmann replacing Tiedemann). Finally, two affiliations were listed incorrectly and are corrected here (entries 190 and 193). The author list and affiliations have been amended to address these omissions in both the HTML and PDF versions. © 2021, This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply

The FLUXNET2015 dataset and the ONEFlux processing pipeline for eddy covariance data

The FLUXNET2015 dataset provides ecosystem-scale data on CO2, water, and energy exchange between the biosphere and the atmosphere, and other meteorological and biological measurements, from 212 sites around the globe (over 1500 site-years, up to and including year 2014). These sites, independently managed and operated, voluntarily contributed their data to create global datasets. Data were quality controlled and processed using uniform methods, to improve consistency and intercomparability across sites. The dataset is already being used in a number of applications, including ecophysiology studies, remote sensing studies, and development of ecosystem and Earth system models. FLUXNET2015 includes derived-data products, such as gap-filled time series, ecosystem respiration and photosynthetic uptake estimates, estimation of uncertainties, and metadata about the measurements, presented for the first time in this paper. In addition, 206 of these sites are for the first time distributed under a Creative Commons (CC-BY 4.0) license. This paper details this enhanced dataset and the processing methods, now made available as open-source codes, making the dataset more accessible, transparent, and reproducible