Ontology highlight
ABSTRACT:
SUBMITTER: Ocbina PJ
PROVIDER: S-EPMC3132150 | biostudies-literature | 2011 Jun
REPOSITORIES: biostudies-literature
Ocbina Polloneal Jymmiel R PJ Eggenschwiler Jonathan T JT Moskowitz Ivan I Anderson Kathryn V KV
Nature genetics 20110508 6
Cilia-associated human genetic disorders are striking in the diversity of their abnormalities and their complex inheritance. Inactivation of the retrograde ciliary motor by mutations in DYNC2H1 causes skeletal dysplasias that have strongly variable expressivity. Here we define previously unknown genetic relationships between Dync2h1 and other genes required for ciliary trafficking. Mutations in mouse Dync2h1 disrupt cilia structure, block Sonic hedgehog signaling and cause midgestation lethality ...[more]