A human ALDH1A2 gene variant is associated with increased newborn kidney size and serum retinoic acid

Kidney International

Volumn 78, Issue 1, 2010, Pages 96-102

  El Kares, Reyhan ^a   Manolescu, Daniel C ^b   Lakhal Chaieb, Lajmi ^c   Montpetit, Alexandre ^d   Zhang, Zhao ^a   Bhat, Pangala V ^b   Goodyer, Paul ^a  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

^b CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^c UNIVERSITÉ LAVAL   (Canada)

^d MCGILL UNIVERSITY   (Canada)

Author keywords

Genetics and development; Kidney development; Kidney volume; Pediatric nephrology; Vitamin A

Indexed keywords

RETINOIC ACID; CYTOCHROME P-450 CYP26B1; CYTOCHROME P450; OXIDOREDUCTASE; RETINOIC ACID 4-HYDROXYLASE; RETINOID; RETINOL;

ALDH1A2; ARTICLE; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; KIDNEY DEVELOPMENT; KIDNEY SIZE; MARKER GENE; NEWBORN; NORMAL HUMAN; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ALLELE; COMPLICATION; DEVELOPING COUNTRY; EMBRYOLOGY; GENETICS; GENOTYPE; INFANT; KIDNEY; KIDNEY DISEASE; METABOLISM; NEPHRON; ORGANOGENESIS; PROTO ONCOGENE; RETINOL DEFICIENCY;

ALLELES; CYTOCHROME P-450 ENZYME SYSTEM; DEVELOPING COUNTRIES; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; KIDNEY; KIDNEY DISEASES; NEPHRONS; ORGANOGENESIS; OXIDOREDUCTASES; PROTO-ONCOGENES; RETINOIDS; TRETINOIN; VITAMIN A; VITAMIN A DEFICIENCY;

EID: 77953661972     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2010.101     Document Type: Article

References (41)

1. Hinchliffe SA, Sargent PH, Howard CV et al. Human intrauterine renal growth expressed in absolute number of glomeruli assessed by the disector method and Cavalieri principle. Lab Invest 1991; 64: 777-784.
2. Costantini F, Shakya R. GDNF/Ret signaling and the development of the kidney. Bioessays 2006; 28: 117-127.
3. Shakya R, Watanabe T, Costantini F. The role of GDNF/Ret signaling in ureteric bud cell fate and branching morphogenesis. Dev Cell 2005; 8: 65-74.
4. Schuchardt A, D'Agati V, Pachnis V et al. Renal agenesis and hypodysplasia in ret-k-mutant mice result from defects in ureteric bud development. Development 1996; 122: 1919-1929.
5. Zhang Z, Quinlan J, Hoy W et al. A common RET variant is associated with reduced newborn kidney size and function. J Am Soc Nephrol 2008; 19: 2027-2034.
6. Batourina E, Gim S, Bello N et al. Vitamin A controls epithelial/mesenchymal interactions through Ret expression. Nat Genet 2001; 27: 74-78.
7. Quinlan J, Kaplan F, Sweezey N et al. LGL1, a novel branching morphogen in developing kidney, is induced by retinoic acid. Am J Physiol Renal Physiol 2007; 293: F987-F993.
8. Mendelsohn C, Batourina E, Fung S et al. Stromal cells mediate retinoid-dependent functions essential for renal development. Development 1999; 126: 1139-1148.
9. Lelievre-Pegorier M, Vilar J, Ferrier ML et al. Mild vitamin A deficiency leads to inborn nephron deficit in the rat. Kidney Int 1998; 54: 1455-1462.
10. Moreau E, Vilar J, Lelievre-Pegorier M et al. Regulation of c-ret expression by retinoic acid in rat metanephros: implication in nephron mass control. Am J Physiol 1998; 275: F938-F945.
11. Duester G. Genetic dissection of retinoid dehydrogenases. Chem Biol Interact 2001; 130-132: 469-480.
12. Lin M, Zhang M, Abraham M et al. Mouse retinal dehydrogenase 4 (RALDH4), molecular cloning, cellular expression, and activity in 9-cis-retinoic acid biosynthesis in intact cells. J Biol Chem 2003; 278: 9856-9861.
13. McCaffery P, Drager UC. Retinoic acid synthesizing enzymes in the embryonic and adult vertebrate. Adv Exp Med Biol 1995; 372: 173-183.
14. Niederreither K, McCaffery P, Drager UC et al. Restricted expression and retinoic acid-induced downregulation of the retinaldehyde dehydrogenase type 2 (RALDH-2) gene during mouse development. Mech Dev 1997; 62: 67-78.
15. Niederreither K, Subbarayan V, Dolle P et al. Embryonic retinoic acid synthesis is essential for early mouse post-implantation development. Nat Genet 1999; 21: 444-448.
16. Niederreither K, Vermot J, Schuhbaur B et al. Retinoic acid synthesis and hindbrain patterning in the mouse embryo. Development 2000; 127: 75-85.
17. Abu-Abed S, MacLean G, Fraulob V et al. Differential expression of the retinoic acid-metabolizing enzymes CYP26A1 and CYP26B1 during murine organogenesis. Mech Dev 2002; 110: 173-177.
18. Xi J, Yang Z. Expression of RALDHs (ALDH1As) and CYP26s in human tissues and during the neural differentiation of P19 embryonal carcinoma stem cell. Gene Expr Patterns 2008; 8: 438-442.
19. Niederreither K, Abu-Abed S, Schuhbaur B et al. Genetic evidence that oxidative derivatives of retinoic acid are not involved in retinoid signaling during mouse development. Nat Genet 2002; 31: 84-88.
20. Taimi M, Helvig C, Wisniewski J et al. A novel human cytochrome P450, CYP26C1, involved in metabolism of 9-cis and all-trans isomers of retinoic acid. J Biol Chem 2004; 279: 77-85.
21. Wilson JG, Roth CB, Warkany J. An analysis of the syndrome of malformations induced by maternal vitamin A deficiency. Effects of restoration of vitamin A at various times during gestation. Am J Anat 1953; 92: 189-217.
22. Gilbert T, Merlet-Benichou C. Retinoids and nephron mass control. Pediatr Nephrol 2000; 14: 1137-1144.
23. Gilbert T. Vitamin A and kidney development. Nephrol Dial Transplant 2002; 17(Suppl 9): 78-80.
24. Schmidt IM, Main KM, Damgaard IN et al. Kidney growth in 717 healthy children aged 0-18 months: a longitudinal cohort study. Pediatr Nephrol 2004; 19: 992-1003.
25. Nyengaard JR, Bendtsen TF. Glomerular number and size in relation to age, kidney weight, and body surface in normal man. Anat Rec 1992; 232: 194-201.
26. Clark AT, Bertram JF. Molecular regulation of nephron endowment. Am J Physiol 1999; 276: F485-F497.
27. Brenner BM, Garcia DL, Anderson S. Glomeruli and blood pressure. Less of one, more the other? Am J Hypertens 1988; 1: 335-347.
28. Keller G, Zimmer G, Mall G et al. Nephron number in patients with primary hypertension. N Engl J Med 2003; 348: 101-108.
29. Goodyer P, Kurpad A, Rekha S et al. Effects of maternal vitamin A status on kidney development: a pilot study. Pediatr Nephrol 2007; 22: 209-214.
30. Cawley S, Bekiranov S, Ng HH et al. Unbiased mapping of transcription factor binding sites along human chromosomes 21 and 22 points to widespread regulation of noncoding RNAs. Cell 2004; 116: 499-509.
31. Marlier A, Gilbert T. Expression of retinoic acid-synthesizing and-metabolizing enzymes during nephrogenesis in the rat. Gene Expr Patterns 2004; 5: 179-185.
32. Abu-Abed S, Dolle P, Metzger D et al. The retinoic acid-metabolizing enzyme, CYP26A1, is essential for normal hindbrain patterning, vertebral identity, and development of posterior structures. Genes Dev 2001; 15: 226-240.
33. Sakai Y, Meno C, Fujii H et al. The retinoic acid-inactivating enzyme CYP26 is essential for establishing an uneven distribution of retinoic acid along the anterio-posterior axis within the mouse embryo. Genes Dev 2001; 15: 213-225.
34. Yashiro K, Zhao X, Uehara M et al. Regulation of retinoic acid distribution is required for proximodistal patterning and outgrowth of the developing mouse limb. Dev Cell 2004; 6: 411-422.
35. Mosteller RD. Simplified calculation of body-surface area. N Engl J Med 1987; 317: 1098.
36. McClean SW, Ruddel ME, Gross EG et al. Liquid-chromatographic assay for retinol (vitamin A) and retinol analogs in therapeutic trials. Clin Chem 1982; 28: 693-696.
37. Barrett JC, Fry B, Maller J et al. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21: 263-265.
38. de Bakker PI, Yelensky R, Pe'er I et al. Efficiency and power in genetic association studies. Nat Genet 2005; 37: 1217-1223.
39. Emigh TH. A comparison of tests for Hardy-Weinberg equilibrium. Biometrics 1980; 36: 627-642.
40. Keuls M. The use of the 'studentized range' in connection with an analysis of variance. Euphytica 1952; 1: 112-122.
41. Zhang D, Fan C, Zhang J et al. Nonparametric methods for measurements below detection limit. Stat Med 2009; 28: 700-715.