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Related Concept Videos

Anatomy of the Genitourinary System II: Bladder and Urethra01:19

Anatomy of the Genitourinary System II: Bladder and Urethra

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The lower urinary system consists of the urinary bladder and urethra, which are essential in storing and expelling urine from the body. Together with the internal and external sphincters, these structures work together to regulate urination effectively.Anatomy of the BladderThe urinary bladder is a muscular, stretchable organ behind the pubic bone and in front of the rectum. In females, the bladder is positioned anterior to the vagina and inferior to the uterus, while in males, it is located...
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The urinary bladder is a hollow, muscular sac that temporarily stores urine before it is expelled from the body. It can hold approximately 600 mL of urine prior to micturition. The bladder is retroperitoneal and located behind the pubic symphysis in the pelvic floor.
In males, the bladder is situated in front of the rectum, while in females, it is positioned anterior to the vagina and uterus. The bladder floor contains an inverted triangular area called the trigone, defined by the two ureteric...
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Development of the reproductive organs in an embryo starts from a bipotential state. This means the early embryo can develop either male or female reproductive organs. The formation of these organs begins with the growth of gonadal ridges that arise from the intermediate mesoderm during the fifth week of development.
Near the gonadal ridges, two duct systems are present: the mesonephric ducts (Wolffian ducts) and paramesonephric ducts (Müllerian ducts). These ducts form the basis for the...
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Anatomy of the Genitourinary System I: Kidneys and Ureters01:11

Anatomy of the Genitourinary System I: Kidneys and Ureters

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The upper urinary system comprises two kidneys and two ureters, which are crucial in filtering blood and forming urine.KidneysLocation and Structure:The kidneys are two bean-shaped organs positioned behind the peritoneum on either side of the spine.Kidneys are between the 12th thoracic (T12) and the 3rd lumbar (L3) vertebrae.The position of the liver causes the right kidney to sit slightly lower than the left.Protective Layers:Each kidney is enveloped in a tough, fibrous membrane called the...
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Ureters01:22

Ureters

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The ureters are retroperitoneal tubes located on either side of the vertebral column. They are responsible for transporting urine from each kidney to the urinary bladder. These tubes have thick walls and are approximately 25-30 cm long. Their diameter is around 10 mm at the renal pelvis, gradually narrowing to 1 mm as the ureter obliquely enters the posterior bladder wall through the ureteric orifices. The shape of these orifices is slit-like, which helps to prevent urine backflow toward the...
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The Micturition Reflex01:26

The Micturition Reflex

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Urination, or micturition involves the coordination of the bladder's detrusor muscle and two sphincters to ensure controlled bladder emptying.
The process begins with bladder filling, where the bladder wall stretches as urine accumulates. This stretching activates the urine storage reflex, mediated by the sacral spinal segments and the pontine storage center. Efferent sympathetic impulses stimulate the detrusor muscle to relax and the internal urethral sphincter to contract, facilitating...
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Related Experiment Video

Updated: Dec 10, 2025

Assessing Urinary Tract Junction Obstruction Defects by Methylene Blue Dye Injection
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SLC20A1 Is Involved in Urinary Tract and Urorectal Development.

Johanna Magdalena Rieke1,2,3, Rong Zhang4, Doreen Braun1

  • 1Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.

Frontiers in Cell and Developmental Biology
|August 28, 2020
PubMed
Summary

The phosphate transporter SLC20A1 is crucial for urinary tract and urorectal development. Variants in SLC20A1 cause kidney cysts and cloacal malformations, implicating it in bladder exstrophy-epispadias complex.

Keywords:
CAKUTSLC20A1bladder exstrophy-epispadias complexcloacal malformationfunctional geneticskidney formationurinary tract developmentzebrafish development

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Area of Science:

  • Developmental Biology
  • Genetics
  • Molecular Biology

Background:

  • The phosphate transporter SLC20A1 (also known as slc20a1a in zebrafish) has been observed in pronephric kidneys of developing vertebrates.
  • SLC20A1 is a candidate gene for cloacal exstrophy, suggesting a role in urorectal development.
  • The precise function of SLC20A1 in urinary tract development remains largely unknown.

Purpose of the Study:

  • To investigate the functional role of SLC20A1 in urinary tract and urorectal development using zebrafish models.
  • To identify genetic variants in SLC20A1 associated with bladder exstrophy-epispadias complex (BEEC) in humans.
  • To explore the cellular mechanisms underlying SLC20A1-associated developmental defects.

Main Methods:

  • Morpholino oligonucleotide knockdown of the zebrafish ortholog slc20a1a.
  • Immunohistochemistry on human embryonic tissues.
  • Resequencing of SLC20A1 in individuals with BEEC.
  • Functional assays of SLC20A1 variants in HEK293 cells.

Main Results:

  • slc20a1a knockdown in zebrafish resulted in kidney cysts, cloacal malformations, dysfunctional voiding, and hindgut opening defects.
  • SLC20A1 expression was detected in the urinary tract and abdominal midline of human embryos.
  • Two novel monoallelic de novo SLC20A1 variants were identified in individuals with BEEC, including cloacal exstrophy.
  • Expressed SLC20A1 variants did not impair phosphate transport but showed a trend towards reduced cleaved caspase-3 levels, suggesting a role in apoptosis pathways.

Conclusions:

  • SLC20A1 plays a significant role in embryonic urinary tract and urorectal development.
  • Genetic variants in SLC20A1 are implicated as a cause of bladder exstrophy-epispadias complex.
  • The disease mechanism may involve dysregulation of apoptosis rather than impaired phosphate transport.