An international research group including Associate Professor Tomoo Ogi of the Nagasaki University Graduate School of Biomedical Sciences, identified a new gene responsible for Seckel Syndrome, ATRIP.

An international research group including Associate Professor Tomoo Ogi of the Nagasaki University Research Centre for Genomic Instability and Carcinogenesis (NRGIC), Nagasaki University Graduate School of Biomedical Science, identified a new gene responsible for Seckel syndrome (OMIM 216000), ATRIP. Seckel syndrome is a DNA repair-deficient genetic disease characterized by developmental anomalies such as dwarfism and microcephaly, and is an extremely rare recessive disease, which was previously identified in only two families in the world with mutations of the ataxia telangiectasia and Rad3 related (ATR) gene.
The research group analyzed the genome of new patients mainly found in Western countries to identify disease-related mutations of the ATRIP gene that codes ATR interacting protein (ATRIP). ATRIP is essential to modulate the activation of the DNA repair checkpoint through interaction with the ATR protein.
Biochemical functional analysis has revealed that the mutant-type ATRIP protein has impaired interaction with ATR and decreased function of the DNA repair checkpoint, which may lead to the onset of the disease.
In the future, we will investigate the activation mechanism of the DNA repair checkpoint by the ATR/ATRIP complex, which is expected to pave the way for applied research such as drug discovery screening for new anticancer agents.

The results of this research were published in PLOS Genetics, an academic journal specialized in genetics (online bulletin, 8 November 2012).
http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002945

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