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Genetic and cellular basis of 16p11.2-p12.2 microdeletion syndrome and related neural disorders

15th National Programme for the allocation of Research Grants for Life and Matter Sciences

Rare diseases

Senior Researcher : Marcos Malumbres Martínez

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Research Centre or Institution : Centro Nacional de Investigaciones Oncológicas (CNIO). Madrid


Among the syndromes characterised by neurological defects, this work has focused on that accompanied by the recurrent deletion of a pericentromeric region on chromosome 16 (16p11.2-p12.2). The loss of this fragment in only one allele produces a syndrome with mental retardation, craniofacial abnormalities and cardiovascular problems in children. This chromosomal region includes the Polo-like kinase gene 1 (Plk1), which encodes a cell cycle kinase involved in centrosome maturation and segregation, as well as progression through the different phases of mitosis. Plk1 (+/-) heterozygous mice have been developed, which develop various cardiovascular and craniofacial abnormalities and behavioural problems. The aim is therefore to characterise the relevance of Plk1 with this syndrome by analysing the asymmetric division of neuroblasts discussed in detail in cellular studies using conditional deletion of Plk1 in the nervous system.

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