Article
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.
Nature genetics - 1 Feb 2008
Griffith Elen, Walker Sarah, Martin Carol-Anne, Vagnarelli Paola, Stiff Tom, Vernay Bertrand, Al Sanna Nouriya, Saggar Anand, Hamel Ben, Earnshaw William C, Jeggo Penny A, Jackson Andrew P, O'Driscoll Mark
Abstract excerpt
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...
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