Wittler, Lars and Hilger, Alina and Proske, Judith and Pennimpede, Tracie and Draaken, Markus and Ebert, Anne-Karoline and Roesch, Wolfgang and Stein, Raimund and Noethen, Markus M. and Reutter, Heiko and Ludwig, Michael (2012) Murine expression and mutation analyses of the prostate androgen-regulated mucin-like protein 1 (Parm1) gene, a candidate for human epispadias. GENE, 506 (2). pp. 392-395. ISSN 0378-1119, 1879-0038
Full text not available from this repository. (Request a copy)Abstract
Background: Epispadias is the mildest phenotype of the human bladder exstrophy-epispadias complex (BEEC), and presents with varying degrees of severity. This urogenital birth defect results from a disturbance in the septation process, during which separate urogenital and anorectal components are formed through division of the cloaca. This process is reported to be influenced by androgen signaling. The human PARM1 gene encodes the prostate androgen-regulated mucin-like protein 1, which is expressed in heart, kidney, and placenta. Methods: We performed whole mount in situ hybridization analysis of Parm1 expression in mouse embryos between gestational days (CD) 9.5 and 12.5, which are equivalent to human gestational weeks 4-6. Since the spatio-temporal localization of Parm1 corresponded to tissues which are affected in human epispadias, we sequenced FARM! in 24 affected patients. Results: We found Parm1 specifically expressed in the region of the developing cloaca, the umbilical cord, bladder anlage, and the urethral component of the genital tubercle. Additionally, Parm1 expression was detected in the muscle progenitor cells of the somites and head mesenchyme. PARM1 gene analysis revealed no alterations in the coding region of any of the investigated patients. Conclusions: These findings suggest that PARM1 does not play a major role in the development of human epispadias. However, we cannot rule out the possibility that a larger sample size would enable detection of rare mutations in this gene. (C) 2012 Elsevier B.V. All rights reserved.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | ENDOPLASMIC-RETICULUM STRESS; REPRESSED MESSAGE-1; APOPTOSIS; CELLS; Androgen signaling; Epispadias; Gene analysis; PARM1; Whole mount in situ hybridization |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Kinder- und Jugendmedizin Medicine > Lehrstuhl für Urologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 06 May 2020 05:37 |
| Last Modified: | 06 May 2020 05:37 |
| URI: | https://pred.uni-regensburg.de/id/eprint/18108 |
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