Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency.

The BCL11A gene encodes a transcriptional repressor with essential functions in multiple tissues during human development. Haploinsufficiency for BCL11A causes Dias-Logan syndrome (OMIM 617101), an intellectual developmental disorder with hereditary persistence of fetal hemoglobin (HPFH). Due to the severe phenotype, disease-causing variants in BCL11A occur de novo.

Dissecting ELANE neutropenia pathogenicity by human HSC gene editing.

Severe congenital neutropenia (SCN) is a life-threatening disorder most often caused by dominant mutations of ELANE that interfere with neutrophil maturation. We conducted a pooled CRISPR screen in human hematopoietic stem and progenitor cells (HSPCs) that correlated ELANE mutations with neutrophil maturation potential. Highly efficient gene editing of early exons elicited nonsense-mediated decay (NMD), overcame neutrophil maturation arrest in HSPCs from ELANE-mutant SCN patients, and produced normal hematopoietic engraftment function.

Author Correction: Identification of functional tetramolecular RNA G-quadruplexes derived from transfer RNAs.

The original version of this Article contained an error in the spelling of the author Steven M. Coyne, which was incorrectly given as Stephen M. Coyne.

Identification of functional tetramolecular RNA G-quadruplexes derived from transfer RNAs.

RNA G-quadruplex (RG4) structures are involved in multiple biological processes. Recent genome-wide analyses of human mRNA transcriptome identified thousands of putative intramolecular RG4s that readily assemble in vitro but shown to be unfolded in vivo. Previously, we have shown that mature cytoplasmic tRNAs are cleaved during stress response to produce tRNA fragments that function to repress translation in vivo.

A Tissue-Mapped Axolotl De Novo Transcriptome Enables Identification of Limb Regeneration Factors.

Mammals have extremely limited regenerative capabilities; however, axolotls are profoundly regenerative and can replace entire limbs. The mechanisms underlying limb regeneration remain poorly understood, partly because the enormous and incompletely sequenced genomes of axolotls have hindered the study of genes facilitating regeneration. We assembled and annotated a de novo transcriptome using RNA-sequencing profiles for a broad spectrum of tissues that is estimated to have near-complete sequence information for 88% of axolotl genes.

Evolution of predator dispersal in relation to spatio-temporal prey dynamics: how not to get stuck in the wrong place!

The eco-evolutionary dynamics of dispersal are recognised as key in determining the responses of populations to environmental changes. Here, by developing a novel modelling approach, we show that predators are likely to have evolved to emigrate more often and become more selective over their destination patch when their prey species exhibit spatio-temporally complex dynamics. We additionally demonstrate that the cost of dispersal can vary substantially across space and time.