Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance

Journal of Inherited Metabolic Disease

Volumn 33, Issue 6, 2010, Pages 715-725

  Coffee, Erin M ^a   Tolan, Dean R ^a  

^a Boston University   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CYSTEINE; FRUCTOSE BISPHOSPHATE ALDOLASE; GLYCINE; LUCIFERASE;

ARTICLE; BINDING SITE; CHILD; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; ETHNIC DIFFERENCE; EXON; FEMALE; GEL MOBILITY SHIFT ASSAY; GENE FREQUENCY; GENE LOCATION; GENE MUTATION; GENETIC CONSERVATION; HEREDITARY FRUCTOSE INTOLERANCE; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; INFANT; INTRON RETENTION; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PROMOTER REGION; PROVOCATION TEST; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SITE DIRECTED MUTAGENESIS; AFRICAN AMERICAN; CELL CULTURE; ETHNOLOGY; GENETIC SCREENING; GENETIC TRANSFECTION; GENETICS; HISPANIC; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHYSIOLOGY;

AFRICAN AMERICANS; CELLS, CULTURED; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; FRUCTOSE INTOLERANCE; FRUCTOSE-BISPHOSPHATE ALDOLASE; GENETIC TESTING; HISPANIC AMERICANS; HUMANS; INFANT; MALE; MUTATION, MISSENSE; PROMOTER REGIONS, GENETIC; TRANSFECTION;

EID: 79952564036     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9192-5     Document Type: Article

References (48)

1. Abramoff MD, Magelhaes PJ, Ram SJ (2004) Image processing with image. J Biophoton Int 11:36-42
2. Ali M, Tunçman G, Cross N et al (1994) Null alleles of the aldolase B gene in patients with hereditary fructose intolerance. J Med Genet 31:499-503 (Pubitemid 24182948)
3. Ali M, James CL, Cox TM (1996) A newly identified aldolase B splicing mutation (G- > C, 5′ intron 5) in hereditary fructose intolerance from New Zealand. Hum Mutat 7:155-157
4. Anderson TA (1982) Recent trends in carbohydrate consumption. Annu Rev Nutr 2:113-132
5. Baerlocher K, Gitzelmann R, Steinmann B, Gitzelmann-Cumarumsay N (1978) Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Helv Paediatr Acta 33:465-487 (Pubitemid 9051133)
6. Berardini T, Amsden AB, Penhoet EE, Tolan DR (1999) Identification of conserved promoter elements for aldB and isozyme specific residues in aldolase B. Comp Biochem Physiol 122:53-61 (Pubitemid 29117158)
7. Brooks CC, Buist N, Tuerck J, Tolan DR (1991) Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance. Am J Hum Genet 49:1075-1081 (Pubitemid 21891754)
8. Coffee EM, Yerkes L, Ewen EP, Zee T, Tolan DR (2009) Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. J Inherit Metab Dis 33:33-42
9. Cox TM(1988) Hereditary fructose intolerance. Quart JMed 68:585-594
10. Cox TM (1993) Iatrogenic deaths in hereditary fructose intolerance. Arch Dis Child 69:423-415
11. Cross NC, Cox TM (1990) Partial aldolase B gene deletions in hereditary fructose intolerance. Am J Hum Genet 47:101-106
12. Crossley M, Brownlee GG (1990) Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B. Nature 345:444-446
13. Doyle SA, Tolan DR (1995) Characterization of recombinant human aldolase B and purification by metal chelate chromatography. Biochem Biophys Res Commun 206:902-908
14. Esposito G, Santamaria R, Vitagliano L et al (2004) Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene. Hum Mutat 24:534
15. Faustino NA, Cooper TA (2003) Pre-mRNA splicing and human disease. Genes Dev 17:419-437 (Pubitemid 36258756)
16. Froesch ER, Wolf HP, Baitsch H, Prader A, Labhart A (1963) Hereditary fructose intolerance. An inborn defect of hepatic fructose-1-phosphate splitting aldolase. Am J Med 34:151-167
17. Funari VA, Voevodski K, Leyfer D, Yerkes K, Cramer D, Tolan DR (2010) Quantitative gene-expression profiles in real time from expressed sequence tag database. Gene Expr 14:321-336
18. Gitzelmann R, Baerlocher K (1973) Vorteile und Nachteile der Frucosein der Nahrung. Padiatr Fortbildungsk Prax 37:40-55
19. Gregori C, Ginot F, Decaux J-F et al (1991) Expression of the rat aldolase B gene: a liver-specific proximal promoter and an intronic activator. Biochem Biophys Res Commun 176:722-729
20. Gregori C, Kahn A, Pichard AL (1993) Competition between transcription factors HNF1 and HNF3, and alternative cell-specific activation by DBP and C/EBP contribute to the regulation of the liver-specific aldolase B promoter. Nucleic Acids Res 21:897-903 (Pubitemid 23152997)
21. Gregori C, Kahn A, Pichard AL (1994) Activity of the rat liver-specific aldolase B promoter is restrained by HNF3. Nucleic Acids Res 22:1242-1246 (Pubitemid 24162130)
22. Gregori C, Porteu A, Lopez S, Kahn A, Pichard AL (1998) Characterization of the aldolase B intronic enhancer. J Biol Chem 273:25237-25243 (Pubitemid 28443287)
23. Hers H-G, Joassin G (1961) Anomalie de l'aldolase hepatique dans l'intolerance au fructose. Enzymol Biol Clin 1:4-14
24. James CL, Rellos P, Ali M, Heeley AF, Cox TM (1996) Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population. J Med Genet 33:837-841 (Pubitemid 26375792)
25. Koivisto UM, Palvimo JJ, Janne OA, Kontula K (1994) A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia. Proc Natl Acad Sci USA 91:10526-10530 (Pubitemid 24329031)
26. Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54
27. Laméire N, Mussche M, Baele G, Kint J, Ringoir S (1978) Hereditary fructose intolerance: a difficult diagnosis in the adult. Am J Med 65:416-423 (Pubitemid 9021942)
28. Lopez-Lastra M, Rivas A, Barria MI (2005) Protein synthesis in eukaryotes: the growing biological relevance of cap-independent translation initiation. Biol Res 38:121-146 (Pubitemid 41535614)
29. Malay AD, Procious SL, Tolan DR (2002) The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance. Arch Biochem Biophys 408:295-304 (Pubitemid 36027052)
30. McGlincy NJ, Smith CW (2008) Alternative splicing resulting in nonsense-mediated mRNA decay: what is the meaning of nonsense? Trends Biochem Sci 33:385-393
31. Morris RCJ (1968) An experimental renal acidification defect in patients with hereditary fructose intolerance. II. Its distinction from classic renal tubular acidosis: its resemblance to the renal acidification defect associated with the Fanconi syndrome of children with cystinosis. J Clin Invest 47:1648-1663
32. Odièvre M, Gentil C, Gautier M, Alagille D (1978) Hereditary fructose intolerance in childhood: diagnosis, management and course in 55 patients. Am J Dis Child 132:605-608 (Pubitemid 9125818)
33. Orkin SH, Alter BP, Altay C et al (1978) Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion. New Engl J Med 299:166-172 (Pubitemid 8396222)
34. Park HD, Kim YK, Park KU, Kim JQ, Song YH, Song J (2009) A novel c.-22 T > C mutation in GALK1 promoter is associated with elevated galactokinase phenotype. BMC Med Genet 10:29
35. Perez-Tur J, Froelich S, Prihar G et al (1995) A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene. NeuroReport 7:297-301 (Pubitemid 26077246)
36. Raymondjean M, Pichard A-L, Gregori C, Ginot F, Kahn A (1991) Interplay of an original combination of factors: C/EBP, NFY, HNF3, and HNF1 in the rat aldolase B gene promoter. Nucleic Acids Res 19:6145-6153 (Pubitemid 21913032)
37. Saiki RK, Scharf S, Faloona F et al (1985) Enzymatic amplification of b-globin genomic sequences and restriction analysis for diagnosis of sickle cell anemia. Science 230:1350-1354 (Pubitemid 16105164)
38. Sakai T, Ohtani N, McGee TL, Robbins PD, Dryja TP (1991) Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene. Nature 353:83-86 (Pubitemid 21912463)
39. Santer R, Rischewski J, von Weihe M et al (2005) The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. Hum Mutat 25:594
40. Silva al. Romao L (2009) The mammalian nonsense-mediated mRNA decay pathway: to decay or not to decay! which players make the decision? FEBS Lett 583:499-505
41. Steinmann B, Gitzelmann R (1981) The diagnosis of hereditary fructose intolerance. Helv Paediatr Acta 36:297-316 (Pubitemid 11018169)
42. Steinmann B, Gitzelmann R, Van den Berghe G (2001) Disorders of fructose metabolism. In: Scriver C, Beaudet A, Sly W, Valle D (eds) The metabolic and molecular basis of inherited disease. McGraw-Hill, New York, pp 1489-1520
43. Tolan DR, Brooks CC (1992) Molecular analysis of common aldolase B alleles for hereditary fructose intolerance in North Americans. Biochem Mol Med 48:19-25
44. Tolan DR, Penhoet EE (1986) Characterization of the human aldolase B gene. Mol Biol Med 3:245-264
45. Tsutsumi K, Ito K, Ishikawa K (1989) Developmental appearance of transcription factors that regulate liver-specific expression of the aldolase B gene. Mol Cell Biol 9:4923-4931 (Pubitemid 19275962)
46. Vallet V, Bens M, Antoine B et al (1995) Transcription factors and aldolase B gene expression in microdissected renal proximal tubules and derived cell lines. Exp Cell Res 216:363-370
47. Yabuki T, Ejiri S, Tsutsumi K (1993) Ubiquitous factors that interact simultaneously with two distinct cis-elements on the rat aldolase B gene promoter. Biochim Biophys Acta 1216:15-19 (Pubitemid 23314495)
48. Yudkin J, Kang SS, Bruckdorfer KR (1980) Effects of high dietary sugar. Br Med J 281:1396 (Pubitemid 11240850)