PMID- 22766399
OWN - NLM
STAT- MEDLINE
DCOM- 20121017
LR  - 20120807
IS  - 1879-0038 (Electronic)
IS  - 0378-1119 (Linking)
VI  - 506
IP  - 2
DP  - 2012 Sep 15
TI  - Murine expression and mutation analyses of the prostate androgen-regulated 
      mucin-like protein 1 (Parm1) gene, a candidate for human epispadias.
PG  - 392-5
LID - 10.1016/j.gene.2012.06.082 [doi]
AB  - 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.
CI  - Copyright (c) 2012 Elsevier B.V. All rights reserved.
FAU - Wittler, Lars
AU  - Wittler L
AD  - Department of Developmental Genetics, Max-Planck-Institute for Molecular 
      Genetics, Berlin, Germany.
FAU - Hilger, Alina
AU  - Hilger A
FAU - Proske, Judith
AU  - Proske J
FAU - Pennimpede, Tracie
AU  - Pennimpede T
FAU - Draaken, Markus
AU  - Draaken M
FAU - Ebert, Anne-Karoline
AU  - Ebert AK
FAU - Rosch, Wolfgang
AU  - Rosch W
FAU - Stein, Raimund
AU  - Stein R
FAU - Nothen, Markus M
AU  - Nothen MM
FAU - Reutter, Heiko
AU  - Reutter H
FAU - Ludwig, Michael
AU  - Ludwig M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20120702
PL  - Netherlands
TA  - Gene
JT  - Gene
JID - 7706761
RN  - 0 (Androgen-Binding Protein)
RN  - 0 (PARM-1 protein, human)
RN  - 0 (Parm-1 protein, mouse)
SB  - IM
MH  - Androgen-Binding Protein/*biosynthesis/*genetics
MH  - Animals
MH  - DNA Mutational Analysis
MH  - Epispadias/*genetics/*metabolism
MH  - Female
MH  - *Gene Expression Regulation, Developmental
MH  - Humans
MH  - In Situ Hybridization
MH  - Male
MH  - Mice
MH  - Phenotype
MH  - Prostate/*metabolism
MH  - Sequence Analysis, DNA
MH  - Time Factors
MH  - Tissue Distribution
EDAT- 2012/07/07 06:00
MHDA- 2012/10/18 06:00
CRDT- 2012/07/07 06:00
PHST- 2012/05/23 00:00 [received]
PHST- 2012/06/20 00:00 [revised]
PHST- 2012/06/25 00:00 [accepted]
PHST- 2012/07/07 06:00 [entrez]
PHST- 2012/07/07 06:00 [pubmed]
PHST- 2012/10/18 06:00 [medline]
AID - S0378-1119(12)00792-5 [pii]
AID - 10.1016/j.gene.2012.06.082 [doi]
PST - ppublish
SO  - Gene. 2012 Sep 15;506(2):392-5. doi: 10.1016/j.gene.2012.06.082. Epub 2012 Jul 2.