Development of ureteric collection system (Homo sapiens)

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242151510, 131872411011171214523other known genesthat can cause CAKUTif loss/decrease of function mutation occursPallister–Hall syndromeFraser syndrome pathwayKallmann syndromeSHH/SMO axis5CELSR1HOXD11GREB1LFREM2FGFR2GLI1RARGCCND1SHHPAX2RETROBO2BMP4GDNFLHX1SMAD1RARAGATA3SPRY1WT1GFRA1CTNNB1GDF11HOXA11ROBO1SALL1ITGB1SMOGRIP1CyclopamineWNT11SLIT2GREM1FOXC1ETV4FAT4MYCNGLI3SIX1ILKRARBANOS1VANGL2FRAS1ITGA8TGFB26168, 20169193, 9, 14, 22control branchingof uretric systemFRAS1FREM1SIX2174GLI21010required for normalkidney developmentGLI3 is required in the ureteric cell lineage to decrease renal branching morphogenesis23


Description

This pathway describes the gene signalling pathway active in the development of the ureteric collection system in human kidney development. Mutations in essential genes within this pathway can lead to development of CAKUT (congenital anomalies of the kidney and urinary tract).

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Bibliography

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  2. Linton JM, Martin GR, Reichardt LF; ''The ECM protein nephronectin promotes kidney development via integrin alpha8beta1-mediated stimulation of Gdnf expression.''; Development, 2007 PubMed Europe PMC Scholia
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  4. Kiyozumi D, Sugimoto N, Nakano I, Sekiguchi K; ''Frem3, a member of the 12 CSPG repeats-containing extracellular matrix protein family, is a basement membrane protein with tissue distribution patterns distinct from those of Fras1, Frem2, and QBRICK/Frem1.''; Matrix Biol, 2007 PubMed Europe PMC Scholia
  5. Pitera JE, Scambler PJ, Woolf AS; ''Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli.''; Hum Mol Genet, 2008 PubMed Europe PMC Scholia
  6. Jadeja S, Smyth I, Pitera JE, Taylor MS, van Haelst M, Bentley E, McGregor L, Hopkins J, Chalepakis G, Philip N, Perez Aytes A, Watt FM, Darling SM, Jackson I, Woolf AS, Scambler PJ; ''Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.''; Nat Genet, 2005 PubMed Europe PMC Scholia
  7. Brodbeck S, Besenbeck B, Englert C; ''The transcription factor Six2 activates expression of the Gdnf gene as well as its own promoter.''; Mech Dev, 2004 PubMed Europe PMC Scholia
  8. Hardelin JP, Julliard AK, Moniot B, Soussi-Yanicostas N, Verney C, Schwanzel-Fukuda M, Ayer-Le Lievre C, Petit C; ''Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: implications for the developmental anomalies of X chromosome-linked Kallmann syndrome.''; Dev Dyn, 1999 PubMed Europe PMC Scholia
  9. Rasmussen M, Sunde L, Nielsen ML, Ramsing M, Petersen A, Hjortshøj TD, Olsen TE, Tabor A, Hertz JM, Johnsen I, Sperling L, Petersen OB, Jensen UB, Møller FG, Petersen MB, Lildballe DL; ''Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies.''; Clin Genet, 2018 PubMed Europe PMC Scholia
  10. Hu MC, Mo R, Bhella S, Wilson CW, Chuang PT, Hui CC, Rosenblum ND; ''''; , PubMed Europe PMC Scholia
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  12. Gamer LW, Cox KA, Small C, Rosen V; ''Gdf11 is a negative regulator of chondrogenesis and myogenesis in the developing chick limb.''; Dev Biol, 2001 PubMed Europe PMC Scholia
  13. Blake J, Hu D, Cain JE, Rosenblum ND; ''Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor.''; Hum Mol Genet, 2016 PubMed Europe PMC Scholia
  14. Brophy PD, Rasmussen M, Parida M, Bonde G, Darbro BW, Hong X, Clarke JC, Peterson KA, Denegre J, Schneider M, Sussman CR, Sunde L, Lildballe DL, Hertz JM, Cornell RA, Murray SA, Manak JR; ''A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.''; Genetics, 2017 PubMed Europe PMC Scholia
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  16. Brzóska HŁ, d'Esposito AM, Kolatsi-Joannou M, Patel V, Igarashi P, Lei Y, Finnell RH, Lythgoe MF, Woolf AS, Papakrivopoulou E, Long DA; ''Planar cell polarity genes Celsr1 and Vangl2 are necessary for kidney growth, differentiation, and rostrocaudal patterning.''; Kidney Int, 2016 PubMed Europe PMC Scholia
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  18. Kiyozumi D, Sugimoto N, Sekiguchi K; ''Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects.''; Proc Natl Acad Sci U S A, 2006 PubMed Europe PMC Scholia
  19. McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ; ''Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.''; Nat Genet, 2003 PubMed Europe PMC Scholia
  20. Duke V, Quinton R, Gordon I, Bouloux PM, Woolf AS; ''Proteinuria, hypertension and chronic renal failure in X-linked Kallmann's syndrome, a defined genetic cause of solitary functioning kidney.''; Nephrol Dial Transplant, 1998 PubMed Europe PMC Scholia
  21. Pitera JE, Woolf AS, Basson MA, Scambler PJ; ''Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome.''; J Am Soc Nephrol, 2012 PubMed Europe PMC Scholia
  22. De Tomasi L, David P, Humbert C, Silbermann F, Arrondel C, Tores F, Fouquet S, Desgrange A, Niel O, Bole-Feysot C, Nitschké P, Roume J, Cordier MP, Pietrement C, Isidor B, Khau Van Kien P, Gonzales M, Saint-Frison MH, Martinovic J, Novo R, Piard J, Cabrol C, Verma IC, Puri R, Journel H, Aziza J, Gavard L, Said-Menthon MH, Heidet L, Saunier S, Jeanpierre C; ''Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.''; Am J Hum Genet, 2017 PubMed Europe PMC Scholia
  23. Cain JE, Islam E, Haxho F, Chen L, Bridgewater D, Nieuwenhuis E, Hui CC, Rosenblum ND; ''GLI3 repressor controls nephron number via regulation of Wnt11 and Ret in ureteric tip cells.''; PLoS One, 2009 PubMed Europe PMC Scholia
  24. Rowan CJ, Li W, Martirosyan H, Erwood S, Hu D, Kim YK, Sheybani-Deloui S, Mulder J, Blake J, Chen L, Rosenblum ND; ''Hedgehog-GLI signaling inFoxd1-positive stromal cells promotes murine nephrogenesis via TGFβ signaling.''; Development, 2018 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
115389view12:13, 17 February 2021Fehrhartadded TGFB2 and references
115388view11:53, 17 February 2021Fehrhartadded new reference
115387view11:47, 17 February 2021Fehrhartwork in progress
115308view14:41, 11 February 2021Fehrhartfixed unconnected line
115307view14:40, 11 February 2021FehrhartModified description
115306view14:37, 11 February 2021Fehrhartwork in progress
115305view14:28, 11 February 2021FehrhartModified title
115285view18:37, 9 February 2021Fehrhartwork in progress
115284view18:30, 9 February 2021Fehrhartwork in progress
115283view18:15, 9 February 2021Fehrhartwork in progress
115259view09:18, 8 February 2021FehrhartModified description
115252view09:01, 8 February 2021FehrhartOntology Term : 'kidney disease' added !
115251view09:01, 8 February 2021FehrhartOntology Term : 'signaling pathway' added !
115250view08:48, 8 February 2021FehrhartNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
ANOS1GeneProductENSG00000011201 (Ensembl) also known as KAL-1, KAL1
BMP4GeneProductENSG00000125378 (Ensembl)
CCND1GeneProductENSG00000110092 (Ensembl) CyclinD1
CELSR1GeneProductENSG00000075275 (Ensembl)
CTNNB1GeneProductENSG00000168036 (Ensembl)
CyclopamineMetaboliteCHEBI:4021 (ChEBI)
ETV4GeneProductENSG00000175832 (Ensembl)
FAT4GeneProductENSG00000196159 (Ensembl)
FGFR2GeneProductENSG00000066468 (Ensembl)
FOXC1GeneProductENSG00000054598 (Ensembl)
FRAS1GeneProductENSG00000138759 (Ensembl)
FREM1GeneProductENSG00000164946 (Ensembl)
FREM2GeneProductENSG00000150893 (Ensembl)
GATA3GeneProductENSG00000107485 (Ensembl)
GDF11GeneProductENSG00000135414 (Ensembl)
GDNFGeneProductENSG00000168621 (Ensembl)
GFRA1GeneProductENSG00000151892 (Ensembl)
GLI1GeneProductENSG00000111087 (Ensembl)
GLI2GeneProductENSG00000074047 (Ensembl)
GLI3GeneProductENSG00000106571 (Ensembl)
GREB1LGeneProductENSG00000141449 (Ensembl)
GREM1GeneProductENSG00000276886 (Ensembl)
GRIP1GeneProductENSG00000155974 (Ensembl)
HOXA11GeneProductENSG00000005073 (Ensembl)
HOXD11GeneProductENSG00000128713 (Ensembl)
ILKGeneProductENSG00000166333 (Ensembl)
ITGA8GeneProductENSG00000077943 (Ensembl)
ITGB1GeneProductENSG00000150093 (Ensembl)
LHX1GeneProductENSG00000273706 (Ensembl)
MYCNGeneProductENSG00000134323 (Ensembl) N-MYC
PAX2GeneProductENSG00000075891 (Ensembl)
RARAGeneProductENSG00000131759 (Ensembl)
RARBGeneProductENSG00000077092 (Ensembl)
RARGGeneProductENSG00000172819 (Ensembl)
RETGeneProductENSG00000165731 (Ensembl)
ROBO1GeneProductENSG00000169855 (Ensembl)
ROBO2GeneProductENSG00000185008 (Ensembl)
SALL1GeneProductENSG00000103449 (Ensembl)
SHHGeneProductENSG00000164690 (Ensembl)
SIX1GeneProductENSG00000126778 (Ensembl)
SIX2GeneProductENSG00000170577 (Ensembl)
SLIT2GeneProductENSG00000145147 (Ensembl)
SMAD1GeneProductENSG00000170365 (Ensembl)
SMOGeneProductENSG00000128602 (Ensembl)
SPRY1GeneProductENSG00000164056 (Ensembl)
TGFB2GeneProductENSG00000092969 (Ensembl)
VANGL2GeneProductENSG00000162738 (Ensembl)
WNT11GeneProductENSG00000085741 (Ensembl)
WT1GeneProductENSG00000184937 (Ensembl)

Annotated Interactions

No annotated interactions

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