Abstract
The rising incidence of genitourinary (GU) defects among newborns establishes the need and opportunity to focus research efforts on the amelioration of this growing public-health concern. Sadly, our inability to explain the causes of GU defects can be directly attributed to our lack of understanding of GU gene function. Recently, mouse models have been used to provide new insights into the mechanisms that underlie congenital GU malformations.
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Acknowledgements
The author thanks D. Stadler for the critical reading of this manuscript and S. Nguyen, E. Morgan and V. Scott for expert technical assistance. A portion of this work was supported by grants from the National Institutes of Health/National Institute of Diabetes and Digestive and Kidney Disorders, and the March of Dimes Birth Defects Foundation (Basil O'Connor Starter Scholar Research Award Grant).
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Glossary
- CORONAL HYPOSPADIA
-
A malformation of the distal portion of the penis in which the urinary opening is misplaced.
- FINASTERIDE
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An inhibitor of the enzyme 5-β reductase that converts testosterone to dihydroxytestosterone (a potent androgen used during the masculinization of the male fetus).
- FOCAL SCULPTING
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A developmental process that removes cells or tissues by programmed cell death, which facilitates the formation or differentiation of an embryonic region.
- HYPOPLASIA
-
The underdevelopment of a tissue or organ.
- HYPOSPADIA
-
A developmental defect that affects the growth and closure of the ventral urethra, meatus or scrotum.
- OS-CLITORIS
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A structure found in female mice, which differs from the human clitoris by the presence of an ossified region of endochondral and membranous bone. Homologous to the os-penis in male mice.
- OS-PENIS
-
A structure found in male mice, which differs from the human penis by the presence of an ossified region of endochondral and membranous bone. Homologous to the os-clitoris in female mice.
- PARALOGUES
-
Genes that are related by duplication in a genome, which have evolved new functions
- PERITONEAL HYPOSPADIA
-
A malformation of the base of the external genitalia and body wall, which remains open in affected individuals.
- STRATIFICATION
-
The layered differentiated state of epithelial cells that line many of the genitourinary structures.
- TERATOGEN
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An agent that causes the malformation of a developing fetus; for example, chemicals, viruses and ionizing radiation.
- TUNEL ASSAY
-
(Terminal dUTP nick-end-labelling assay). An enzymatic process that labels the 3′ ends of DNA in a cell that is undergoing programmed cell death.
- URETHRAL EPITHELIUM
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(UE). A centrally located layer of cells in the developing genital tubercle that secretes many of the growth factors that are required for normal genitourinary development.
- URETHRAL HYPOSPADIA
-
A defect in closure of the primary shaft of the penis in which multiple openings form.
- VINCLOZOLIN
-
A protectant nonsystemic dicarboximide fungicide that exhibits antiandrogenic activity in mammals. It is used mainly on oilseed rape and peas in the United Kingdom, and on vines, fruit and vegetables in the United States.
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Stadler, H. Modelling genitourinary defects in mice: an emerging genetic and developmental system. Nat Rev Genet 4, 478–482 (2003). https://doi.org/10.1038/nrg1083
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DOI: https://doi.org/10.1038/nrg1083
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