Nkx2-5 and Sarcospan genetically interact in the development of the muscular ventricular septum of the heart

The muscular ventricular septum separates the flow of oxygenated and de-oxygenated blood in air-breathing vertebrates. Defects within it, termed muscular ventricular septal defects (VSDs), are common, yet less is known about how they arise than rarer heart defects. Mutations of the cardiac transcription factor NKX2-5 cause cardiac malformations, including muscular VSDs. We describe here a genetic interaction between Nkx2-5 and Sarcospan (Sspn) that affects the risk of muscular VSD in mice. Sspn encodes a protein in the dystrophin-glycoprotein complex. Sspn knockout (Sspn(KO)) mice do not have heart defects, but Nkx2-5(+/−)/Sspn(KO) mutants have a higher incidence of muscular VSD than Nkx2-5(+/−) mice. Myofibers in the ventricular septum follow a stereotypical pattern that is disrupted around a muscular VSD. Subendocardial myofibers normally run in parallel along the left ventricular outflow tract, but in the Nkx2-5(+/−)/Sspn(KO) mutant they commonly deviate into the septum even in the absence of a muscular VSD. Thus, Nkx2-5 and Sspn act in a pathway that affects the alignment of myofibers during the development of the ventricular septum. The malalignment may be a consequence of a defect in the coalescence of trabeculae into the developing ventricular septum, which has been hypothesized to be the mechanistic basis of muscular VSDs

The genetic architecture of a congenital heart defect Is related to Its fitness cost

In newborns, severe congenital heart defects are rarer than mild ones. This epidemiological relationship between heart defect severity and incidence lacks explanation. Here, an analysis of ~10,00

Graphene Synthesis via Magnetic Inductive Heating of Copper Substrates

Scaling graphene growth using an oven to heat large substrates becomes less energy efficient as system size is increased. We report a route to graphene synthesis in which radio frequency (RF) magnetic fields inductively heat metal foils, yielding graphene of quality comparable to or higher than that of current chemical vapor deposition techniques. RF induction heating allows for rapid temperature ramp up/down, with great potential for large scale and rapid manufacturing of graphene with much better energy efficiency. Back-gated field effect transistors on a SiO2/Si substrate showed carrier mobility up to similar to 14000 cm(2) V-1 s(-1) measured under ambient conditions. Many advantages of RF heating are outlined, and some fundamental aspects of this approach are discussed