Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome.

doi:10.1371/journal.pgen.1003022

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Article

Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome.

PLoS genetics - 1 Jan 2012

McIntyre Rebecca E, Lakshminarasimhan Chavali Pavithra, Ismail Ozama, Carragher Damian M, Sanchez-Andrade Gabriela, Forment Josep V, Fu Beiyuan, Del Castillo Velasco-Herrera Martin, Edwards Andrew, van der Weyden Louise, Yang Fengtang, Ramirez-Solis Ramiro, Estabel Jeanne, Gallagher Ferdia A, Logan Darren W, Arends Mark J, Tsang Stephen H, Mahajan Vinit B, Scudamore Cheryl L, White Jacqueline K, Jackson Stephen P, Gergely Fanni, Adams David J

Abstract excerpt

Disruption of the centromere protein J gene, CENPJ (CPAP, MCPH6, SCKL4), which is a highly conserved and ubiquitiously expressed centrosomal protein, has been associated with primary microcephaly and the microcephalic primordial dwarfism disorder Seckel syndrome. The mechanism by which disruption of CENPJ causes the proportionate, primordial growth failure that is characteristic of Seckel syndrome is unknown. By...

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PMID: 23166506
DOI: 10.1371/journal.pgen.1003022
PMCID: PMC3499256

Genes

ATR
CPAP

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