Alterations in the phenotype of neocortical pyramidal cells in the Dyrk1A+/- mouse.

[monosomy 21]

The gene encoding the dual-specificity tyrosine-regulated kinase DYRK 1 A maps to the chromosomal segment HSA 21 q 22 .2 , which lies within the Down syndrome critical region . The reduction in brain size and behavioral defects observed in mice lacking one copy of the murine homologue Dyrk 1 A (Dyrk 1 A +/-) support the idea that this kinase may be involved in monosomy 21 associated mental retardation . However , the structural basis of these behavioral defects remains unclear . In the present work , we have analyzed the microstructure of cortical circuitry in the Dyrk 1 A +/- mouse and control littermates by intracellular injection of Lucifer Yellow in fixed cortical tissue . We found that labeled pyramidal cells were considerably smaller , less branched and less spinous in the cortex of Dyrk 1 A +/- mice than in control littermates . These results suggest that Dyrk 1 A influences the size and complexity of pyramidal cells , and thus their capability to integrate information .

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Diseases presenting "and thus their capability to integrate information" symptom

monosomy 21

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