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Disruption of Gen1 Causes Congenital Anomalies of the Kidney and Urinary Tract in Mice.

Publication ,  Journal Article
Wang, H; Zhang, C; Wang, X; Lian, Y; Guo, B; Han, M; Zhang, X; Zhu, X; Xu, S; Guo, Z; Bi, Y; Shen, Q; Wang, X; Liu, J; Zhuang, Y; Ni, T; Xu, H; Wu, X
Published in: Int J Biol Sci
2018
Published version (DOI) Link to item

Congenital anomalies of the kidney and urinary tract (CAKUT) are among the most common developmental defects in humans. Despite of several known CAKUT-related loci (HNF1B, PAX2, EYA1, etc.), the genetic etiology of CAKUT remains to be elucidated for most patients. In this study, we report that disruption of the Holliday Junction resolvase gene Gen1 leads to renal agenesis, duplex kidney, hydronephrosis, and vesicoureteral reflux (VUR) in mice. GEN1 interacts with SIX1 and enhances the transcriptional activity of SIX1/EYA1, a key regulatory complex of the GDNF morphogen. Gen1 mutation impairs Grem1 and Gdnf expression, resulting in excessive ureteric bud formation and defective ureteric bud branching during early kidney development. These results revealed an unidentified role of GEN1 in kidney development and suggested its contribution to CAKUT.

Duke Scholars

Yuan Zhuang
Author Yuan Zhuang Integrative Immunobiology
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Published In

Int J Biol Sci

DOI

10.7150/ijbs.22768

EISSN

1449-2288

Publication Date

2018

Volume

14

Issue

1

Start / End Page

10 / 20

Location

Australia

Related Subject Headings

  • Urinary Tract
  • Protein Tyrosine Phosphatases
  • Protein Binding
  • Polymerase Chain Reaction
  • Nuclear Proteins
  • Mutation
  • Mice
  • Kidney
  • Intracellular Signaling Peptides and Proteins
  • In Situ Hybridization
 

Citation

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ICMJE
MLA
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Wang, H., Zhang, C., Wang, X., Lian, Y., Guo, B., Han, M., … Wu, X. (2018). Disruption of Gen1 Causes Congenital Anomalies of the Kidney and Urinary Tract in Mice. Int J Biol Sci, 14(1), 10–20. https://doi.org/10.7150/ijbs.22768
Wang, Herui, Chi Zhang, Xiaowen Wang, Yaru Lian, Bin Guo, Miao Han, Xiaoe Zhang, et al. “Disruption of Gen1 Causes Congenital Anomalies of the Kidney and Urinary Tract in Mice.” Int J Biol Sci 14, no. 1 (2018): 10–20. https://doi.org/10.7150/ijbs.22768.
Wang H, Zhang C, Wang X, Lian Y, Guo B, Han M, et al. Disruption of Gen1 Causes Congenital Anomalies of the Kidney and Urinary Tract in Mice. Int J Biol Sci. 2018;14(1):10–20.
Wang, Herui, et al. “Disruption of Gen1 Causes Congenital Anomalies of the Kidney and Urinary Tract in Mice.” Int J Biol Sci, vol. 14, no. 1, 2018, pp. 10–20. Pubmed, doi:10.7150/ijbs.22768.
Wang H, Zhang C, Wang X, Lian Y, Guo B, Han M, Zhang X, Zhu X, Xu S, Guo Z, Bi Y, Shen Q, Liu J, Zhuang Y, Ni T, Xu H, Wu X. Disruption of Gen1 Causes Congenital Anomalies of the Kidney and Urinary Tract in Mice. Int J Biol Sci. 2018;14(1):10–20.

Published In

Int J Biol Sci

DOI

10.7150/ijbs.22768

EISSN

1449-2288

Publication Date

2018

Volume

14

Issue

1

Start / End Page

10 / 20

Location

Australia

Related Subject Headings

  • Urinary Tract
  • Protein Tyrosine Phosphatases
  • Protein Binding
  • Polymerase Chain Reaction
  • Nuclear Proteins
  • Mutation
  • Mice
  • Kidney
  • Intracellular Signaling Peptides and Proteins
  • In Situ Hybridization