Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications

European Journal of Human Genetics

Volumn 7, Issue 4, 1999, Pages 409-414

  Santamaria, Rita ^a   Vitagliano, Luigi ^a   Tamasi, Sonia ^a   Izzo, Paola ^a   Zancan, Lucia ^b   Zagari, Adriana ^a   Salvatore, Francesco ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

Author keywords

Hereditary fructose intolerance; Human aldolase B; Inborn errors of metabolism; Molecular graphics analysis; Mutation causing enzyme alterations

Indexed keywords

FRUCTOSE; FRUCTOSE BISPHOSPHATE ALDOLASE; GLUTAMIC ACID; ISOENZYME; LEUCINE; LYSINE; MUSCLE ENZYME; OLIGONUCLEOTIDE; RESTRICTION ENDONUCLEASE; VALINE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONTROLLED STUDY; CRYSTAL STRUCTURE; DELETION MUTANT; DIET THERAPY; DNA SEQUENCE; EXON; HEREDITARY FRUCTOSE INTOLERANCE; HUMAN CELL; INBORN ERROR OF METABOLISM; MALE; NONHUMAN; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RABBIT; SINGLE STRAND CONFORMATION POLYMORPHISM; STRUCTURE ACTIVITY RELATION;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHILD; COMPUTER GRAPHICS; DATABASES, FACTUAL; DNA MUTATIONAL ANALYSIS; FEMALE; FRUCTOSE INTOLERANCE; FRUCTOSE-BISPHOSPHATE ALDOLASE; HUMANS; LIVER; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; PROTEIN CONFORMATION; RABBITS; SEQUENCE DELETION; STRUCTURE-ACTIVITY RELATIONSHIP;

ORYCTOLAGUS CUNICULUS;

EID: 0032977720     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200299     Document Type: Article

References (21)

1. Salvatore F, Izzo P, Paolella G: Aldolase gene and protein families: structure, expression and pathophysiology. In: F. Blasi (ed). Human Genes and Diseases, Horizon in Biochemistry and Biophysics, vol. 8, John Wiley & Sons, Ltd, 1986; 611-665.
2. Gitzelmann R, Steinmann B, Van den Berghe G: Disorders of fructose metabolism. In: Scriver CR, Beaudet AL, Sly WS, Walle D (eds). The Metabolic and Molecular Bases of Inherited Disease, 7th edn. McGraw-Hill: New York, 1994,pp 905-934.
3. Ali M, Rellos P, Cox TM: Hereditary fructose intolerance. J Med Genet 1998; 35: 353-365.
4. Cross NCP, Stojanov LM, Cox TM: A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. Nucleic Acids Res 1990; 18: 1925.
5. Cox TM: Aldolase B and fructose intolerance. FASEB J 1994; 8: 62-71.
6. Tolan DR: Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene. Hum Mutat 1995; 6: 210-218.
7. Dalby A, Rawas A, Watson HC, Littlechild JA: Crystallisation and preliminary X-ray diffraction studies on human liver aldolase. Protein Peptide Lett 1996; 3: 207-212.
8. Gamblin SJ, Cooper B, Millar JR, Davies JG, Littlechild JA, Watson HC: The crystal structure of human muscle aldolase at 3.0 A resolution. FEBS Lett 1990; 262: 282-286.
9. Gamblin SJ, Davies GJ, Grimes JM, Jackson RM, Littlechild JA, Watson HC: Activity and specificity of human aldolases. J Mol Biol 1991; 219: 573-576.
10. Littlechild JA, Watson HC: A data-based reaction mechanism for type I fructose bisphosphate aldolase. TIBS 1993; 18: 36-39.
11. Sygusch J, Beaudry D, Allaire M: Molecular architecture of rabbit skeletal muscle aldolase at 2.7 Å resolution. Proc Natl Acad Sci USA 1987; 85: 9133-9137.
12. Blom N, Sygusch J: Product binding and role of the C-terminal region in class I D-fructose 1,6-bisphosphate aldolase. Nat Struct Biol 1997; 4: 36-39.
13. Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.
14. Santamaria R, Scarano MI, Esposito G, Chiandetti L, Izzo P, Salvatore F: The molecular basis of hereditary fructose intolerance in Italian children. Eur J Clin Chem Clin Biochem 1993; 31: 675-678.
15. Santamaria R, Tamasi S, Del Piano G et al: Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene. J Med Genet 1996; 33: 786-788.
16. Hutchinson EG, Thornton JM: PROMOTIF: a program to identify and analyze structural motifs in proteins. Protein Science 1996; 5: 212-220.
17. Jones TA, Zou JY, Cowan SW, Kjeldgaard M: Improved methods for building protein models in electron-density maps and the location of errors in these models. Acta Crystallogr 1991; A47: 110-119.
18. Kraulis PJ: MOLSCRIPT: a program to produce both detailed and schematic plots of protein structures. J Appl Crystallogr 1991; 24: 946-950.
19. Merrit E, Murphy M: RASTER 3D version 2.0: a program for photorealistic molecular graphics. Acta Crystallogr 1994; D50: 869-879.
20. Beutler E, McKusick VA, Motulsky AG, Scriver CR, Hutchinson F: Mutation nomenclature: nicknames, systematic names, and unique identifiers. Hum Mutat 1996; 8: 203-206.
21. Castaldo G, Rippa E, Sebastio G et al: Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semi-automated robotic procedure. J Med Genet 1996; 33: 475-479.