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Sexual differentiation mechanisms in chromosomal aneuploidies: a correlation with genes determining gonadal tumorigenesis with emphasis in Turner syndrome


The sexual development in mammals starts with the fertilization, process that define the chromosomal sex determination of the zygote as a consequence of gene expression interaction, transcriptional factors, hormones and its receptors. Many genes from autosomes and sexual chromosomes make part of this process. A complex cascade of gene signaling is formed by products that participate in different moments of the gonadal tissues development. Changes in mechanisms of action, expression or relative dosage of these genes could generate many degrees of abnomalities of sexual development.The presence of chromosome Y sequences in patients with disgenetic gonads increases the risk to gonadal tumors, specially gonadoblastoma. The most important consideration refers to the increased risk of development of gonadoblastoma or other kinds of gonadal tumors and to the virilization that can arise if Y chromosome sequences were present.This way, this research project has the objective of investigate the presence of Y chromosome genes (SRY and TSPY) by PCR in Turner Syndrome patients that presents 45,X karyotype searching for hidden mosaicism; to stablish a protocol to avoid gonadal tumor development by identification of Y-chromosome fragments carriers with indication of prophylactic gonadectomy; to study the expression of sexual diferentiation and tumor development related genes in the gonads (SRY, WT-1, SF-1, STRA8, TSPY, POU5f1, GATA-4, FOG-2) by RT-PCR and gene expression dosage by RQ-PCR in the gonads of selected patients who underwent prophylactic gonadectomy and correlate these findings with the genesis mechanisms of gonadal tumors to contribute for a better understanding of this complex process. (AU)

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(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
BIANCO, BIANCA; LIPAY, MONICA; GUEDES, ALEXIS; OLIVEIRA, KELLY; VERRESCHI, IEDA T. N. SRY Gene Increases the Risk of Developing Gonadoblastoma and/or Nontumoral Gonadal Lesions in Turner Syndrome. INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY, v. 28, n. 2, p. 197-202, MAR 2009. Web of Science Citations: 34.

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