Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation
Section snippets
Results and discussion
The mammalian X chromosome is enriched with genes expressed in the brain, as demonstrated by the high incidence of X-linked neurological disorders (Skuse, 2005, Nguyen and Disteche, 2006).
We have previously described two living related male adolescents harboring the same disruption of the KIAA2022 gene on the X chromosome (Cantagrel et al., 2004). Both patients display a similar, although complex, phenotype. The older patient was presenting febrile seizures and oculogyric crisis in infancy. A
Animals
Pregnant mice (C57BL/6) were obtained from the Janvier breeding center (Elevage Janvier, Le Genest Saint Isle, France). Temporal profile of Kiaa2022 expression during the development was initially assessed using real time quantitative PCR using mRNAs extracted from either whole embryo at E10.5, E12.5, E15.5 and E18.5 or whole brain at P0 (birth), P3, P10 and P45. Localization of Kiaa2022 expression during the development was studied by in situ hybridization at E11.5, E12.5, E13.5, P3 and P45.
Acknowledgements
We thank Pierre-Yves Risold for helpful discussions and Vincent Nieoullon for technical advice. We thank Jean-Charles Viemari for advice concerning the preparation and labeling of medulla samples. VC is a recipient of a grant from the Ministère de la Recherche et de la Technologie, France. MRH is a recipient of a grant from Al-Hayat Hospital, Lebanon. This work was supported by INSERM (Institut National de la Santé Et de la Recherche Médicale).
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These two authors contributed equally to this work.