Centrosomal protein of 55 kDa (CEP55): Expression and localization in human brain development
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Date
2015-08-07
Authors
Goerz, Conrad
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Abstract
Recently in Manitoba, an exceedingly rare condition was described in three children from the same family of Mennonite ancestry. All three fetuses were stillborn in the third trimester. Ultrasound examination during gestation showed oligohydramnios, small dysplastic kidneys, and hydranencephaly, a condition wherein the brain is reduced to a thin membrane. Post-mortem analysis on the infants showed that the cerebellum, brain stem, basal nuclei, and regions of the temporal and frontal lobes were hypoplastic but present. The remainder of the cerebrum was either missing or reduced to islands of tissue. Microscopic examination of the neural tissue showed multinucleated cells in all brain regions. Genetic analysis of the affected individuals showed the shared genetic mutation to be in the CEP55 gene. The CEP55 protein was previously found to be localized to the mother centriole in interphase cells and be important for regulation of cytokinesis. This is a novel mutation and the pathogenesis is not obvious. This project will use immunohistochemistry to characterize the expression patterns of the CEP55 gene in brain and kidney tissue in human and rat tissue at successive stages of fetal and postnatal development. This will be correlated with expression of the proliferation marker Ki67. The intent of these investigations is to develop a better understanding of the development of hydranencephaly and multinucleated neurons in affected individuals.
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Keywords
CEP55, Centrosoma, mRNA