ZCWPW1 has co-evolved with PRDM9, in particular the PRDM9-SET domain, and although not involved in PRDM9's role in positioning recombination events, it is required for PRDM9's role in pairing chromosomes.
Ribosomal proteins Rps27 (eS27) and Rps27l (eS27L) are an ancient pair of duplicated genes that encode functionally interchangeable proteins, yet have been evolutionarily retained because both copies are necessary to achieve protein expression across cell types.
Analysis of epigenome maps from human pancreatic progenitors and functional validation in zebrafish identify LAMA1 and CRB2 as type 2 diabetes risk-associated genes with roles in pancreatic development.
Meltem Weger, Benjamin D Weger ... Thomas Dickmeis
The glucose-sensing transcription factor MondoA regulates zebrafish epiboly via cholesterol biosynthesis genes including the human disease gene Nsdhl, revealing an unknown role for metabolic glucose signalling in vertebrate development.
The c-terminus of PI3K plays a key role in regulating kinase activity, with c-terminal disease-linked mutations leading to either activation or inhibition, which reveal a path to specific inhibitors.
Marzia Munafò, Victoria R Lawless ... Benjamin Czech
By linking export and licensing of a piRNA precursor transcript, channel nuclear pore complex subunits Nup54 and Nup58 are specifically required to silence transposons in the Drosophila ovary.
DECR1, a rate-limiting enzyme for polyunsaturated fatty acid (PUFA) β-oxidation, is an androgen-repressed gene in prostate cancer cells that limits oxidative stress to promote cancer cell survival.
Scaffolding protein RAPSYN can exert its NEDD8 E3 ligase activity to neddylate and stabilize oncogenic BCR-ABL by competing proteasomal degradation in Ph+ leukemia.