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Lúcia Y Brown

Publications and source records attributed to Lúcia Y Brown.

2 recordsLinked to original sources

Immunolocalization of Zic2 expression in the developing mouse forebrain.

The Zic genes are a family of zinc finger transcription factors defined by their homology with the Drosophila gene, odd-paired (opa). Zic2 has a critical role in forebrain development, as is evidenced by the fact that, in both mice and humans, diminished expression results in the severe forebrain malformation known as holoprosencephaly. Published information indicates that Zic2 expression is most prominent in the dorsal neural tube/spinal cord and in the hindbrain; however, there is no published description of the pattern of expression of Zic2 in the developing forebrain where the main Zic2 associated phenotype occurs. Using a Zic2-specific antiserum, we present new information about the expression of Zic2 in the developing mouse forebrain. In addition, we show that in sonic hedgehog (Shh) null mice, the expression of Zic2 is expanded ventrally in some structures while absent in others, suggesting that Shh has a role in regulating the expression of Zic2.

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Possible association of NTDs with a polyhistidine tract polymorphism in the ZIC2 gene.

Neural tube defects (NTDs) and brain malformations represent a common finding in chromosome 13q deletion patients. Hemizygosity for ZIC2, which is located in the 13q32 critical deletion region, results in holoprosencephaly (HPE) in humans, and diminished expression of ZIC2 results in HPE as well as lumbosacral NTDs in mice. Taken together, these observations led us to hypothesize that ZIC2 mutations may be a cause of isolated NTD. To test this, we screened 192 NTD patients for mutations in ZIC2. While we did not find ZIC2 mutations in these patients, we did find some evidence of a possible association between a histidine tract polymorphism in ZIC2 and NTDs. Our sample was too small to reach definitive conclusions, but the evidence is sufficiently intriguing to encourage further research. If this association is confirmed, subtle alterations in ZIC2 activity may confer a risk of NTD.

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