Ontology highlight
ABSTRACT:
SUBMITTER: Griffith E
PROVIDER: S-EPMC2397541 | biostudies-literature | 2008 Feb
REPOSITORIES: biostudies-literature
Griffith Elen E Walker Sarah S Martin Carol-Anne CA Vagnarelli Paola P Stiff Tom T Vernay Bertrand B Al Sanna Nouriya N Saggar Anand A Hamel Ben B Earnshaw William C WC Jeggo Penny A PA Jackson Andrew P AP O'Driscoll Mark M
Nature genetics 20071223 2
Large brain size is one of the defining characteristics of modern humans. Seckel syndrome (MIM 210600), a disorder of markedly reduced brain and body size, is associated with defective ATR-dependent DNA damage signaling. Only a single hypomorphic mutation of ATR has been identified in this genetically heterogeneous condition. We now report that mutations in the gene encoding pericentrin (PCNT)--resulting in the loss of pericentrin from the centrosome, where it has key functions anchoring both st ...[more]