Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men

被引：253

作者：

Nishimura, H

Yerkes, E

Hohenfellner, K

Miyazaki, Y

Ma, J

Hunley, TE

Yoshida, H

Ichiki, T

Threadgill, D

Phillips, JA

Hogan, BML

Fogo, A

Brock, JW

Inagami, T

Ichikawa, L ^{[1
]}

机构：

[1] Vanderbilt Univ, Ctr Med, Dept Pediat, Nashville, TN 37232 USA

[2] Vanderbilt Univ, Ctr Med, Dept Urol Surg, Nashville, TN 37232 USA

[3] Vanderbilt Univ, Ctr Med, Dept Biochem, Nashville, TN 37232 USA

[4] Vanderbilt Univ, Ctr Med, Dept Cell Biol, Nashville, TN 37232 USA

[5] Vanderbilt Univ, Ctr Med, Dept Pathol, Nashville, TN 37232 USA

[6] Vanderbilt Univ, Ctr Med, Dept Med, Nashville, TN 37232 USA

[7] Univ Mainz, Dept Pediat, D-55101 Mainz, Germany

来源：

MOLECULAR CELL | 1999年 / 3卷 / 01期

关键词：

D O I：

10.1016/S1097-2765(00)80169-0

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Angiotensin type 2 receptor gene null mutant mice display congenital anomalies of the kidney and urinary tract (CAKUT). Various features of mouse CAKUT impressively mimic human CAKUT. Studies of the human type 2 receptor (AGTR2) gene in two independent cohorts found that a significant association exists between CAKUT and a nucleotide transition within the lariat branchpoint motif of intron 1, which perturbs AGTR2 mRNA splicing efficiency. AGTR2, therefore, has a significant ontogenic role for the kidney and urinary tract system. Studies revealed that the establishment of CAKUT is preceded by delayed apoptosis of undifferentiated mesenchymal cells surrounding the urinary tract during key ontogenic events, from the ureteral budding to the expansive growth of the kidney and ureter.

引用

页码：1 / 10

页数：10

共 30 条

[1] CONTRALATERAL RENAL ABNORMALITIES IN MULTICYSTIC-DYSPLASTIC KIDNEY-DISEASE [J].

ATIYEH, B ;

HUSMANN, D ;

BAUM, M .

JOURNAL OF PEDIATRICS, 1992, 121 (01) :65-67

[2]

AVNER ED, 1985, IN VITRO CELL DEV B, V21, P297

[3] NEONATAL HYDRONEPHROSIS IN THE ERA OF SONOGRAPHY [J].

BROWN, T ;

MANDELL, J ;

LEBOWITZ, RL .

AMERICAN JOURNAL OF ROENTGENOLOGY, 1987, 148 (05) :959-963

[4] Targeting deletion of angiotensin type 1B receptor gene in the mouse [J].

Chen, XM ;

Li, WG ;

Yoshida, H ;

Tsuchida, S ;

Nishimura, H ;

Takemoto, F ;

Okubo, S ;

Fogo, A ;

Matsusaka, T ;

Ichikawa, I .

AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY, 1997, 272 (03) :F299-F304

[5] THE IMPACT OF FETAL SCREENING ON INDICATIONS FOR CYSTOURETHROGRAPHY IN INFANTS [J].

CORET, A ;

MORAG, B ;

KATZ, M ;

LOTAN, D ;

HEYMAN, Z ;

HERTZ, M .

PEDIATRIC RADIOLOGY, 1994, 24 (07) :516-518

[6] A comprehensive genetic map of the mouse genome [J].

Dietrich, WF ;

Miller, J ;

Steen, R ;

Merchant, MA ;

DamronBoles, D ;

Husain, Z ;

Dredge, R ;

Daly, MJ ;

Ingalls, KA ;

OConnor, TJ ;

Evans, CA ;

DeAngelis, MM ;

Levinson, DM ;

Kruglyak, L ;

Goodman, N ;

Copeland, NG ;

Jenkins, NA ;

Hawkins, TL ;

Stein, L ;

Page, DC ;

Lander, ES .

NATURE, 1996, 380 (6570) :149-152

[7] PRENATAL-DIAGNOSIS OF WEYERS SYNDROME (DEFICIENT ULNAR AND FIBULAR RAYS WITH BILATERAL HYDRONEPHROSIS) [J].

ELEJALDE, BR ;

DEELEJALDE, MM ;

BOOTH, C ;

KAYE, C ;

HOLLISON, L .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 21 (03) :439-444

[8]

Evliyaoglu N, 1996, CLIN GENET, V49, P70

[9] DETECTION OF DNA FRAGMENTATION IN APOPTOSIS - APPLICATION OF INSITU NICK TRANSLATION TO CELL-CULTURE SYSTEMS AND TISSUE-SECTIONS [J].

GOLD, R ;

SCHMIED, M ;

ROTHE, G ;

ZISCHLER, H ;

BREITSCHOPF, H ;

WEKERLE, H ;

LASSMANN, H .

JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY, 1993, 41 (07) :1023-1030

[10]

GONZALEZ R, 1996, TXB PEDIAT, P1534

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