A common RET variant is associated with reduced newborn kidney size and function

Journal of the American Society of Nephrology

Volumn 19, Issue 10, 2008, Pages 2027-2034

  Zhang, Zhao ^a   Quinlan, Jackie ^a   Hoy, Wendy ^d   Hughson, Michael D ^f   Lemire, Mathieu ^b   Hudson, Thomas ^b   Hueber, Pierre Alain ^a   Benjamin, Alice ^c   Roy, Anne ^b   Pascuet, Elena ^a   Goodyer, Meigan ^a   Raju, Chandhana ^a   Houghton, Fiona ^a   Bertram, John ^e   Goodyer, Paul ^a,g  

^a RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c MCGILL UNIVERSITY   (Canada)

^d UNIVERSITY OF QUEENSLAND   (Australia)

^e MONASH UNIVERSITY   (Australia)

^f UNIVERSITY OF MISSISSIPPI MEDICAL CENTER   (United States)

^g PT 413   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTATIN C; MESSENGER RNA; TYROSINE KINASE RECEPTOR; CYSTATIN; PROTEIN RET; RET PROTEIN, HUMAN;

ALLELE; ARTICLE; EXON; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; KIDNEY FUNCTION; KIDNEY HYPOPLASIA; KIDNEY SIZE; NEWBORN; PRIORITY JOURNAL; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; BLOOD; CASE CONTROL STUDY; COHORT ANALYSIS; CONGENITAL MALFORMATION; CULTURE TECHNIQUE; GENETICS; INFANT; NEPHRON; ORGAN SIZE; TUMOR CELL LINE;

CASE-CONTROL STUDIES; CELL CULTURE TECHNIQUES; CELL LINE, TUMOR; COHORT STUDIES; CYSTATINS; EXONS; HUMANS; INFANT; INFANT, NEWBORN; NEPHRONS; ORGAN SIZE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS C-RET; RNA SPLICING;

EID: 54049124119     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2007101098     Document Type: Article

References (34)

1. Dziarmaga A, Quinlan J, Goodyer P: Renal hypoplasia: Lessons from Pax2. Pediatr Nephrol 21: 26-31, 2005
2. Clark AT, Bertram JF: Molecular regulation of nephron endowment. Am J Physiol 276: F485-F497, 1999
3. Brenner BM, Garcia DL, Anderson S: Glomeruli and blood pressure: Less of one, more the other? Am J Hypertens 1: 335-347, 1988
4. Mackenzie HS, Lawler EV, Brenner BM: Congenital oligonephropathy: The fetal flaw in essential hypertension? Kidney Int Suppl 55: S30-S34, 1996
5. Keller G, Zimmer G, Mall G, Ritz E, Amann K: Nephron number in patients with primary hypertension. N Engl J Med 348: 101-108, 2003
6. Hoy WE, Wang Z, VanBuynder P, Baker PR, McDonald SM, Mathews JD: The natural history of renal disease in Australian Aborigines. Part 2. Albuminuria predicts natural death and renal failure. Kidney Int 60: 249-256, 2001
7. Cass A, Cunningham J, Wang Z, Hoy W: Regional variation in the incidence of end-stage renal disease in Indigenous Australians. Med J Aust 175: 24-27, 2001
8. Costantini F, Shakya R: GDNF/Ret signaling and the development of the kidney. Bioessays 28: 117-127, 2006
9. Schuchardt A, D'Agati V, Pachnis V, Costantini F: Renal agenesis and hypodysplasia in ret-k- mutant mice result from defects in ureteric bud development. Development 122: 1919-1929, 1996
10. Clarke JC, Patel SR, Raymond RM Jr, Andrew S, Robinson BG, Dressler GR, Brophy PD: Regulation of c-Ret in the developing kidney is responsive to Pax2 gene dosage. Hum Mol Genet 15: 3420-3428, 2006
11. Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR: ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res 31: 3568-3571, 2003
12. Anders J, Kjar S, Ibanez CF: Molecular modeling of the extracellular domain of the RET receptor tyrosine kinase reveals multiple cadherin-like domains and a calcium-binding site. J Biol Chem 276: 35808-35817, 2001
13. Amoresano A, Incoronato M, Monti G, Pucci P, de Franciscis V, Cerchia L: Direct interactions among Ret, GDNF and GFRalpha1 molecules reveal new insights into the assembly of a functional threeprotein complex. Cell Signal 17: 717-727, 2005
14. Goodyer P, Kurpad A, Rekha S, Muthayya S, Dwarkanath P, Iyengar A, Philip B, Mhaskar A, Benjamin A, Maharaj S, Laforte D, Raju C, Phadke K: Effects of maternal vitamin A status on kidney development: A pilot study. Pediatr Nephrol 22: 209-214, 2007
15. Filler G, Bokenkamp A, Hofmann W, Le Bricon T, Martinez-Bru C, Grubb A: Cystatin C as a marker of GFR: History, indications, and future research. Clin Biochem 38: 1-8, 2005
16. Quinlan J, Lemire M, Hudson T, Qu H, Benjamin A, Roy A, Pascuet E, Goodyer M, Raju C, Zhang Z, Houghton F, Goodyer P: A common variant of the PAX2 gene is associated with reduced newborn kidney size. J Am Soc Nephrol 18: 1915-1921, 2007
17. Pastinen T, Ge B, Gurd S, Gaudin T, Dore C, Lemire M, Lepage P, Harmsen E, Hudson TJ: Mapping common regulatory variants to human haplotypes. Hum Mol Genet 14: 3963-3971, 2005
18. Brophy PD, Ostrom L, Lang KM, Dressler GR: Regulation of ureteric bud outgrowth by Pax2-dependent activation of the glial derived neurotrophic factor gene. Development 128: 4747-4756, 2001
19. Kim D, Dressler GR: PTEN modulates GDNF/RET mediated chemotaxis and branching morphogenesis in the developing kidney. Dev Biol 307: 290-299, 2007
20. Plaza-Menacho I, van der Sluis T, Hollema H, Gimm O, Buys CH, Magee AI, Isacke CM, Hofstra RM, Eggen BJ: Ras/ERK1/2-mediated STAT3 Ser727 phosphorylation by familial medullary thyroid carcinoma-associated RET mutants induces full activation of STAT3 and is required for c-fos promoter activation, cell mitogenicity, and transformation. J Biol Chem 282: 6415-6424, 2007
21. Asai N, Fukuda T, Wu Z, Enomoto A, Pachnis V, Takahashi M, Costantini F: Targeted mutation of serine 697 in the Ret tyrosine kinase causes migration defect of enteric neural crest cells. Development 133: 4507-4516, 2006
22. Sanchez MP, Silos-Santiago I, Frisen J, He B, Lira SA, Barbacid M: Renal agenesis and the absence of enteric neurons in mice lacking GDNF. Nature 382: 70-73, 1996
23. Cacalano G, Farinas I, Wang LC, Hagler K, Forgie A, Moore M, Armanini M, Phillips H, Ryan AM, Reichardt LF, Hynes M, Davies A, Rosenthal A: GFRalpha1 is an essential receptor component for GDNF in the developing nervous system and kidney. Neuron 21: 53-62, 1998
24. Jijiwa M, Fukuda T, Kawai K, Nakamura A, Kurokawa K, Murakumo Y, Ichihara M, Takahashi M: A targeting mutation of tyrosine 1062 in Ret causes a marked decrease of enteric neurons and renal hypoplasia. Mol Cell Biol 24: 8026-8036, 2004
25. Jain S, Naughton CK, Yang M, Strickland A, Vij K, Encinas M, Golden J, Gupta A, Heuckeroth R, Johnson EM Jr, Milbrandt J: Mice expressing a dominant-negative Ret mutation phenocopy human Hirschsprung disease and delineate a direct role of Ret in spermatogenesis. Development 131: 5503-5513, 2004
26. Sinnassamy P, Yazbeck S, Brochu P, O'Regan S: Renal anomalies and agenesis associated with total intestinal aganglionosis. Int J Pediatr Nephrol 7: 1-2, 1986
27. Dressler GR, Deutsch U, Chowdhury K, Nornes HO, Gruss P: Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system. Development 109: 787-795, 1990
28. Porteous S, Torban E, Cho NP, Cunliffe H, Chua L, McNoe L, Ward T, Souza C, Gus P, Giugliani R, Sato T, Yun K, Favor J, Sicotte M, Goodyer P, Eccles M: Primary renal hypoplasia in humans and mice with PAX2 mutations: Evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice. Hum Mol Genet 9: 1-11, 2000
29. Dziarmaga A, Eccles M, Goodyer P: Suppression of ureteric bud apoptosis rescues nephron endowment and adult renal function in Pax2 mutant mice. J Am Soc Nephrol 17: 1568-1575, 2006
30. Bertram JF: Analyzing renal glomeruli with the new stereology. Int Rev Cytol 161: 111-172, 1995
31. Hughson M, Farris AB 3rd, Douglas-Denton R, Hoy WE, Bertram JF: Glomerular number and size in autopsy kidneys: The relationship to birth weight. Kidney Int 63: 2113-2122, 2003
32. Nyengaard JR: Stereologic methods and their application in kidney research. J Am Soc Nephrol 10: 1100-1123, 1999
33. Mosteller RD: Simplified calculation of body-surface area. N Engl J Med 317: 1098, 1987
34. Harmoinen A, Ylinen E, Ala-Houhala M, Janas M, Kaila M, Kouri T: Reference intervals for cystatin C in pre- and full-term infants and children. Pediatr Nephrol 15: 105-108, 2000