Development
CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flowThis report identifies two novel CC2D1A variants in patients with intellectual disability. Functional analysis in multiple model systems reveals CC2D1A’s critical role in ciliogenesis and CSF circulation.
Differential roles of lysosomal cholesterol transporters in the development of C. elegans NMJsNeuronal cholesterol homeostasis during synapse development is controlled by two NPC1 homologs in C. elegans: NCR-1 absorbs cholesterol and promotes synaptogenesis, whereas NCR-2 uses cholesterol and hinders synaptogenesis.
C/EBPβ deletion in macrophages impairs mammary gland alveolar budding during the estrous cycleMacrophage C/EBPβ contributes to alveolar budding during the estrous cycle by providing critical signaling to mammary epithelial cells.
Transient chromatin decompaction at the start of D. melanogaster male embryonic germline developmentOur genomics profiling of the earliest fruit fly germline revealed a brief window of major chromatin remodeling in the male germline right after zygotic activation and suggests reprogramming in the early stages of germline to be an evolutionarily conserved phenomenon.
Twisting the theory on the origin of human umbilical cord coiling featuring monozygotic twinsThis study provides a novel framework to understand the molecular origins of human umbilical cord helices using state-of-the-art imaging and omics approaches.
Timing of TORC1 inhibition dictates Pol III involvement in Caenorhabditis elegans longevityInhibiting RNA Polymerase III engages TOR signalling to control development and improves C. elegans late-life health and longevity.
GDF15 controls primary cilia morphology and function thereby affecting progenitor proliferationGDF15/GFRAL ciliary signalling affects cilia morphology, function and proliferation of progenitors contacting the lateral ventricle from late development onwards.
Trim66’s paternal deficiency causes intrauterine overgrowthTRIM66 is a PHD-Bromo–containing protein primarily expressed in spermatids. Here, we report a paternal effect phenotype whereby homozygous Trim66-mutant males sired progeny overweight at birth.
Genetic mutation of Cep76 results in male infertility due to abnormal sperm tail compositionThis study explores the role of CEP76 in male fertility via its predicted role in establishing a functional transition zone that mediates protein entry into the sperm tail.
ETV2 induces endothelial, but not hematopoietic, lineage specification in birdsETV2, a master regulator of blood and vessel development in mammals, is deleted in bird genomes, and exogenous ETV2 induces endothelial lineage specification in nascent chicken mesoderm.