Centa2 is expressed during heart development and is a candidate gene for CVMs

Cardiovascular malformations (CVMs) have a greater incidence in NF1 microdeletion syndrome compared to classical NF1, because of haploinsufficiency of one or more genes inside the deletion. We previously identified by RT-PCR and Northern blot the expression of Centa2, Suz12 and Utp6, mapping in the deletion interval, in human fetal and embryonic mouse heart. To characterize their expression pattern we carried out in situ hybridizations on mouse embryos and sections. Centa2 is expressed in the heart from 9 to 15.5 dpc and displays a strong hybridizations signal at 9-9.5 dpc, while the heart tube is looping. Suz12 is weakly detectable in the heart at 10 dpc, while Utp6 is not detectable in heart. In zebrafish, we detected by RT-PCR only Centa2 expression in adult heart, while in situ hybridizations at different embryonic stages demonstrate that both Centa2 and Suz12 are expressed in CNS. Only a faint Centa2 signal is visible in 48 hpf heart. Little is known about the molecular functions of Centaurin α 2; preliminary yeast two-hybrids results indicate Tubulin β as a possible interactor. Our data suggest a role of Centa2 in heart development and an implication in the onset of CVMs.