Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:2.7.7.49 (reverse transcriptase)
31,746 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The high-mobility-group (HMG) protein gene, HMGIC, is localized to chromosome 12, band q15, a region often rearranged in benign mesenchymal tumors, including uterine leiomyomata. Although some evidence suggests a role in regulation of cell proliferation, the precise function of HMGIC in the development or progression of these tumors remains unclear. We investigated HMGIC expression in 17 fetal tissues (adrenal, aorta, bone, brain, heart, intestine, kidney, liver, lung, muscle, ovary, placenta, skin, spleen, stomach, testis, and uterus) and 10 adult tissues (aorta, brain, cerebellum, fat, kidney, liver, lung, lymph node, myometrium, and spinal cord) by Northern blot and reverse transcriptase-polymerase chain reaction (RT-PCR) assays. Comparisons between HMGIC gene expression in tumor samples from 11 uterine leiomyomata and 7 normal matched myometrium or in vitro cell cultures (chorionic villi, placenta, myometrium, leiomyoma, and skin) were also performed. The gene was expressed in all fetal tissues tested but only in adult lung and kidney. HMGIC was also expressed in leiomyoma tumor samples containing t(12;14) and in all in vitro cell cultures. The pattern of HMGIC expression suggests that this gene is important in rapidly proliferating human fetal tissues. Restoration of expression in leiomyomata required dysregulation of HMGIC. Transcripts of HMGIC can also be detected after in vitro cell culture, suggesting that HMGIC expression may be affected by factors present in culture media and serum. Genes Chromosomes Cancer 25:316-322, 1999.
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PMID:HMGIC expression in human adult and fetal tissues and in uterine leiomyomata. 1039 24

Uterine leiomyomas develop from uterine smooth muscle cells, which are known to be regulated by estrogen and other growth factors. The purpose of this study was to investigate the role of expression of parathyroid hormone related-peptide (PTHrP) in the growth of uterine leiomyomas treated or untreated with gonadotropin-releasing hormone agonist (GnRH-a). Thirty-nine leiomyoma tissues were obtained from 36 patients who had been treated with GnRH-a (n=10) or without GnRH-a (n=29). The intensity of PTHrP immunostaining was categorized into three grades; "negative", "weakly positive", and "positive". Leiomyoma cell growth was estimated by the proliferating cell nuclear antigen (PCNA) labeling index (LI) with an image analyser. We also investigated the correlation between PTHrP expression and cell proliferation or histopathological findings. In the GnRH-a-untreated group, LI of the PTHrP "positive" group was significantly higher than that of the PTHrP "negative" group, but the intensity of PTHrP immunostaining did not correlate with LI in the GnRH-a-treated group. PTHrP expression did not correlate with histological findings or clinical parameters (age and phase of menstrual cycle) in either the GnRH-a-treated or the -untreated group. In addition, the expression of mRNA for PTHrP and its receptor was detected in leiomyomas by reverse transcriptase-polymerase chain reaction (RT-PCR). Our results indicate that the expression of PTHrP in leiomyomas correlated positively with cell growth in the GnRH-a-untreated group, suggesting that PTHrP may act as a local cell growth modifier in an autocrine/paracrine fashion on uterine leiomyomas.
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PMID:Involvement of parathyroid hormone-related peptide in cell proliferation activity of human uterine leiomyomas. 1042 71

Uterine leiomyomata (UL) are a major public health problem, yet little is known about their etiology. Genetic factors likely influence UL development and growth; for example, approximately 40% of UL have chromosomal abnormalities detectable by conventional cytogenetic analysis, including t(12;14)(q15;q23-24), rearrangements involving the short arm of chromosome 6 and interstitial deletions of the long arm of chromosome 7. Two high-mobility group (HMG) protein genes, HMGIC and HMGIY, located at 12q15 and 6p21.3, respectively, are involved in rearrangements in various mesenchymal tumors including UL. In this study, we investigated HMGIY expression in three UL with complex cytogenetic rearrangements of 6p21.3 by reverse transcriptase-polymerase chain reaction (RT-PCR) and electrophoretic shift assay (EMSA). Our findings suggest that there are multiple mechanisms for HMGIY dysregulation, which may include post-translational modification of the hmgiy protein and dysregulation due to different translocation partners. Furthermore, the mechanism dysregulating HMGIY in UL with 6p21.3 and 14q23-24 rearrangements may be similar to the mechanism dysregulating HMGIC in UL characterized as t(12;14)(q15;q23-24), because of the common involvement of an HMG gene and a gene at 14q23-24.
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PMID:Expression of HMGIY in three uterine leiomyomata with complex rearrangements of chromosome 6. 1052 29

Aromatase (P450AROM) is the enzyme complex with converts testosterone to estradiol and androstendione to estrone. This enzyme was detected in various normal tissues and uterine pathology such as uterine myoma, endometrial cancer and endometriosis. The aim of the study was to estimate expression of P450AROM messenger ribonucleic acid (mRNA) in normal, hyperplastic and malignant endometrium, and the ability to convert androstenedione to estrone by endometrial cancer tissue. Normal endometrium was obtained from 16 (12 proliferative phase, 4 secretory phase) regularly cycling women after hysterectomy for myomas, hyperplastic endometrium (n = 5) and endometrial cancer (n = 5) from postmenopausal women. The ability to convert androstenedione to estrone was estimated in 16 cases of endometrial cancer in postmenopausal women. P450AROM mRNA was measured by a quantitative assay based on reverse transcribing the mRNA into cDNA with reverse transcriptase (RT) then amplification of the cDNA using the polymerase chain reaction (PCR). The mean (+/- SEM) expression of aromatase gene in proliferative endometrium was 84.4 +/- 14.0 pg mRNA/microgram DNA and in secretory endometrium 200.3 +/- 87.8 pg mRNA/microgram DNA. The mean (+/- SEM) P450AROM mRNA expression in endometrial hyperplasia was 92.9 +/- 17.8 pg mRNA/microgram DNA, in endometrial cancer was 14.3 +/- 7.7 pg mRNA/microgram DNA. Androstenedione to estrone conversion in endometrial cancer tissue culture was 252.5 +/- 91 fmol/g tissue/h. Our data confirm that human normal, hyperplastic and malignant endometrium do express P450AROM mRNA and that aromatase activity is present in endometrial cancer tissue.
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PMID:[Aromatase (P450AROM) mRNA expression in normal, hyperplastic and malignant endometrium and aromatase activity in endometrial cancer tissue culture]. 1084 13

The HMGIC gene, which codes a protein that acts as an architectural transcription factor, is frequently rearranged in a variety of benign or locally aggressive mesenchymal tumors. In tumors of smooth muscle differentiation, only uterine leiomyoma and lipoleiomyoma are known to be associated with the altered HMGIC. We investigated molecular and genetic alterations of the HMGIC in 36 benign and malignant smooth muscle tumors arising at various anatomical sites, including 13 uterine leiomyomas, two leiomyomas of the kidney with a t(12;14), one pelvic lipoleiomyoma, one vascular leiomyoma of the foot, two uterine leiomyosarcomas, six retroperitoneal leiomyosarcomas, one leiomyosarcoma of the urinary bladder, and 10 leiomyosarcomas of external soft tissues. HMGIC gene expressions were detected in both uterine (73.3%) and extrauterine (57.1%) smooth muscle tumors by reverse transcriptase polymerase chain reaction (RT-PCR), and benign tumors (70.5%) more frequently expressed the HMGIC than leiomyo-sarcomas (57.8%). Variant transcripts of the HMGIC containing cryptic exonic sequences previously described were found in one renal and three uterine leiomyomas and four leiomyosarcomas arising in the uterus and soft tissues by RT-PCR. Southern blot analysis identified a rearranged HMGIC in one soft tissue leiomyosarcoma. Thus, the HMGIC alterations in smooth muscle tumors are not confined only to uterine leiomyoma or lipoleiomyoma. Our data expand the variety of mesenchymal tumors associated with HMGIC alterations.
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PMID:HMGIC alterations in smooth muscle tumors of soft tissues and other sites. 1241 85

This study was performed to investigate the expression of cathepsin B mRNA and protein in eutopic and ectopic endometrial tissues of patients with endometriosis and in normal endometrial tissues and to clarify the association between the cathepsin B expression and endometriosis. A total of 40 women with histologically confirmed endometriosis were recruited for study group. For controls, 20 women undergoing operative treatment for uterine myoma, cervical intraepithelial neoplasia (CIN) or benign gynecologic conditions other than endometriosis were recruited. Eutopic endometrial tissues of both groups and ectopic endometrial tissue of study group were collected during the operations. We employed real time reverse transcriptase - polymerase chain reaction (RT-PCR) to quantify mRNA levels of cathepsin B in these tissues. Then, we performed western blot analysis to measure the protein levels of cathepsin B. The expressions of cathepsin B mRNA and protein were significantly higher in both eutopic and ectopic endometrial tissues of women with endometriosis than in endometrial tissues of controls. These data suggest that the higher expression of cathepsin B in the endometrial tissues might be associated with the development of endometriosis. In addition, eutopic endometrium itself with higher expression cathepsin B may play a pivotal role in the histogenesis of endometriosis.
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PMID:Cathepsin B in eutopic and ectopic endometrial tissues of patients with endometriosis. 2594 29

Uterine leiomyomas are the most common benign tumor of the female genital tract. Previous studies have shown that conventional leiomyomas often harbor-specific alterations including rearrangements involving HMGA2. Cellular leiomyomas are a variant of uterine leiomyoma that are less well-studied from a genomic point of view. Morphologically and immunohistochemically, cellular leiomyomas may be confused with low-grade endometrial stromal neoplasms, a group of tumors which frequently harbor a number of recurrent gene fusions. Ancillary molecular testing may be used to investigate tumors where low-grade endometrial stromal neoplasms enter into the differential diagnosis. At our institution, we identified a uterine cellular leiomyoma harboring a HMGA2-TRAF3IP2 fusion. After a retrospective review 11 additional tumors were identified. All included cases were reviewed and evaluated for immunohistochemical expression of smooth muscle actin, desmin, h-caldesmon, CD10, estrogen receptor, and progesterone receptor. RNA sequencing using the TruSight RNA Fusion Panel was performed on formalin-fixed paraffin-embedded tissue samples. In addition to the index case, two other cases harbored fusions: HMGA2-NAA11 and TPCN2-YAP1, of which the latter is novel and was confirmed with reverse transcriptase-polymerase chain reaction. In conclusion, a subset of cellular leiomyomas harbor rearrangements involving HMGA2, suggesting molecular kinship with conventional uterine leiomyomas. In addition, the prevalence of the novel TPCN2-YAP1 gene fusion in cellular leiomyomas requires further study. The fusions reported here, when identified, may be useful when the diagnosis of cellular leiomyoma is in question.
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PMID:Gene fusions characterize a subset of uterine cellular leiomyomas. 3267 42

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