Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editing.

REEP1 is a transmembrane protein in the endoplasmic reticulum (ER) membrane that is involved in shaping and remodeling of the ER. Mutations in REEP1 cause SPG31, an autosomal dominant form of hereditary spastic paraplegia (HSP). Here we show the generation of a homozygous and a heterozygous REEP1 knockout induced pluripotent stem cell line suitable for in vitro disease modelling using the CRISPR/Cas9 editing system.

The effect of fluvial avulsion on the Holocene chronostratigraphic record and the agricultural signal of the world's largest coastal lagoonal system.

This study identified the occurrence of Holocene chronology hiatuses in the sedimentary record of the Patos-Mirim system caused by river avulsion processes, as well as evidence of sharp anthropogenic changes in the surrounding region of the lagoon water bodies. The presence of chronology hiatuses demonstrates the importance of considering the disturbance effect of paleo-drainage processes on the paleoenvironmental resolution and expression of the sedimentary record of such coastal plains. Anthropogenic activities especially those related to agriculture and forestry have increased significantly during the great acceleration, resulting in modifications of both the landscape and the environmental conditions of the lagoon bodies. Such impacts were clearly reflected in the sedimentary record where abrupt changes in palynological trends, sedimentary DNA, isotopic and granulometric analyses were inferred. The climatic conditions combined with regressive sea level can explain the chronology hiatuses. Pollen analyses demonstrated changes in the landscape, particularly indicated by the shift from Cyperaceae to Poaceae dominance after the 1960 CE. Therefore, all proxies together demonstrate the modification in the landscape and changes in the environment, clearly influenced by anthropogenic action from unsustainable agricultural practices.