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Endometriosis is a gynecologic disease characterized by the presence of endometrial tissue outside the uterine cavity. Although 15% of the female population in reproductive age is affected by endometriosis, its pathogenesis remains unclear. According to the most accepted pathogenesis hypothesis, endometrial fragments from the menstrual phase are transported through the uterine tubes to the peritoneal cavity, where they undergo implantation and growth, invading adjacent tissues. However, the establishment of the disease requires that endometrial cells present molecular characteristics favoring the onset and progression of ectopic implantation. In this investigation, we analyzed the differential gene expression profiles of peritoneal and ovarian endometriotic lesions compared to the endometrial tissue of nonaffected women using rapid subtraction hybridization (RaSH). In our study, this method was applied to samples of endometriotic lesions from affected women and to biopsies of endometrium of healthy women without endometriosis, where we could identify 126 deregulated genes. To evaluate the expression of genes found by RaSH method, we measured LOXL1, HTRA1, and SPARC genes by real-time polymerase chain reaction. Significant different expression was obtained for HTRA1 and LOXL1, upregulated in the ectopic endometrium, suggesting that these genes are involved in the physiopathology of endometriosis and may favor the viability of endometrial cells at ectopic sites.

MUC1 is a transmembrane glycoprotein expressed on the apical surfaces of the uterine epithelial tissue with predicted functions in protection and cell-cell adhesion. These properties are closely related with the repetitive region [variable number of tandem repeats (VNTR)] of the extracellullar domain and with the O-glycosylation in their serine and threonine residues. This study describes a polymerase chain reaction (PCR) protocol to analyse MUC1 bovine genetic polymorphism and demonstrates the existence of a VNTR within the sites for O-glycosylation. Oligonucleotide primers based on the Bos taurus mucin (MUC1) gene sequence GenBank AF399757 were used to amplify five VNTR MUC1 alleles from a study group of 56 pure Nelore bovines. The number of repeats varied between 10 and 24, being more prevalent than the alleles with less number of repeats. The DNA sequence analysis revealed two repeats and one of them presented 100% homology with the bovine consensus sequence already reported. The second repeat showed codons that translate to serine and proline amino acids, which are conserved in the MUC1 of several species. This study is the first description of allelic variation and the VNTR structure in the Nelore breed MUC1 gene, and we suggest that this genetic variability can be tested for association with variation in reproductive traits in Nelore cattle.

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Considerable efforts have been invested in elucidating the potential mechanisms involved in the physiopathology of endometriosis. The aims of our study were to investigate whether RHOC expression is differentially altered in the endometrium and in endometriotic lesions. A total of 40 patients diagnosed with endometriosis and 15 healthy fertile women were selected for the study. Paired biopsies of endometrial tissue (eutopic endometrium) and endometriotic lesions (ectopic endometrium) were obtained from the patients with endometriosis. Endometrium from women without endometriosis was used as a control. Expression of the RHOC gene was analyzed by real-time polymerase chain reaction in autologous endometrial tissues of women with endometriosis and in the endometrium of control women. Increased RHOC expression was detected in endometriotic lesions compared to the eutopic endometrium of women with endometriosis and control women. RHOC changes may be among the key elements involved in the origin and the maintenance of endometriosis.