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  Murine expression and mutation analyses of the prostate androgen-regulated mucin-like protein 1 (Parm1) gene, a candidate for human epispadias.

Wittler, L., Hilger, A., Proske, J., Pennimpede, T., Draaken, M., Ebert, A.-K., et al. (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), 392-395. doi:10.1016/j.gene.2012.06.082.

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 Creators:
Wittler, Lars1, Author              
Hilger, Alina2, Author
Proske, Judith3, Author
Pennimpede, Tracie3, Author              
Draaken, Markus2, Author
Ebert, Anne-Karoline 4, Author
Rösch, Wolfgang4, Author
Stein, Raimund5, Author
Nöthen, Markus M. 2, Author
Reutter, Heiko2, Author
Ludwig, Michael6, Author
Affiliations:
1Transgene Unit (Head: Lars Wittler), Scientific Service (Head: Manuela B. Urban), Max Planck Institute for Molecular Genetics, Max Planck Society, Berlin, Germany, ou_1479663              
2Institute of Human Genetics, University of Bonn, Bonn, Germany, ou_persistent22              
3Dept. of Developmental Genetics (Head: Bernhard G. Herrmann), Max Planck Institute for Molecular Genetics, Max Planck Society, Berlin, Germany, ou_1433548              
4Department of Pediatric Urology, Klinik St. Hedwig, University of Regensburg, Regensburg, Germany, ou_persistent22              
5Department of Urology, University of Mainz, Mainz, Germany, ou_persistent22              
6Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany, ou_persistent22              

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Free keywords: Androgen signaling; Epispadias; Gene analysis; PARM1; Whole mount in situ hybridization
 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 (GD) 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 PARM1 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.

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Language(s): eng - English
 Dates: 2012-07-022012-09-15
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.1016/j.gene.2012.06.082
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Title: Gene
  Other : Gene
Source Genre: Journal
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Publ. Info: Amsterdam : Elsevier
Pages: - Volume / Issue: 506 (2) Sequence Number: - Start / End Page: 392 - 395 Identifier: ISSN: 0378-1119
CoNE: https://pure.mpg.de/cone/journals/resource/954925526821