Ontology highlight
ABSTRACT:
SUBMITTER: Neilson KM
PROVIDER: S-EPMC5221411 | biostudies-literature | 2017 Jan
REPOSITORIES: biostudies-literature
Neilson Karen M KM Abbruzzesse Genevieve G Kenyon Kristy K Bartolo Vanessa V Krohn Patrick P Alfandari Dominique D Moody Sally A SA
Developmental biology 20161209 2
Mutations in SIX1 and in its co-factor, EYA1, underlie Branchiootorenal Spectrum disorder (BOS), which is characterized by variable branchial arch, otic and kidney malformations. However, mutations in these two genes are identified in only half of patients. We screened for other potential co-factors, and herein characterize one of them, Pa2G4 (aka Ebp1/Plfap). In human embryonic kidney cells, Pa2G4 binds to Six1 and interferes with the Six1-Eya1 complex. In Xenopus embryos, knock-down of Pa2G4 l ...[more]