Argininosuccinate lyase deficiency: Mutational spectrum in Italian patients and identification of a novel ASL pseudogene

Human Mutation

Volumn 28, Issue 7, 2007, Pages 694-702

  Trevisson, Eva ^a   Salviati, Leonardo ^a   Baldoin, Maria Cristina ^a   Toldo, Irene ^a   Casarin, Alberto ^a   Sacconi, Sabrina ^b   Cesaro, Luca ^a   Basso, Giuseppe ^a   Burlina, Alberto B ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b UNIVERSITY HOSPITAL OF NICE   (France)

Author keywords

Argininosuccinate lyase; Argininosuccinic aciduria; ASA; ASAuria; ASL; Hybrid minigene; Urea cycle defects

Indexed keywords

ARGININOSUCCINATE LYASE; COMPLEMENTARY DNA; GENOMIC DNA; MESSENGER RNA;

ALTERNATIVE RNA SPLICING; ARGINOSUCCINIC ACIDURIA; ARTICLE; CHILD; CLINICAL ARTICLE; COMA; DEVELOPMENTAL DISORDER; ENZYME ACTIVITY; ENZYME DEFICIENCY; EPILEPSY; ERYTHROCYTE; GENE EXPRESSION; GENE MUTATION; HEPATOMEGALY; HUMAN; HUMAN CELL; HYPERAMMONEMIA; INBORN ERROR OF METABOLISM; INFANT; ITALY; LABORATORY TEST; LIVER FIBROSIS; LIVER FUNCTION TEST; MENTAL DEFICIENCY; MISSENSE MUTATION; MOLECULAR MODEL; NEWBORN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; PSEUDOGENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEIZURE; UREA CYCLE;

AMINO ACID SEQUENCE; ANIMALS; ARGININOSUCCINATE LYASE; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 7; DNA PRIMERS; ERYTHROCYTES; EXONS; GENOTYPE; HUMANS; INTRONS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PSEUDOGENES; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 34447251606     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20498     Document Type: Article

References (22)

1. Abu-Abed M, Turner MA, Vallée F, Simpson A, Slingsby C, Howell PL. 1997. Structural comparison of the enzymatically active and inactive forms of delta crystallin and the role of histidine 91. Biochemistry 36:14012-14022.
2. Al-Sayed M, Alahmed S, Alsmadi O, Khalil H, Rashed MS, Imtiaz F, Meyer BF. 2005. Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria. J Inherit Metab Dis 28:877-883.
3. Baker NA, Sept D, Joseph S, Holst MJ, McCammon JA. 2001. Electrostatics of nanosystems: application to microtubules and the ribosome. Proc Natl Acad Sci USA 98:10037-10041.
4. Barbosa P, Cialkowski M, O'Brien WE. 1991. Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene. J Biol Chem 266:5286-5290.
5. Bastone A, Diomede L, Parini R, Carnevale F, Salmona M. 1990. Determination of argininosuccinate lyase and arginase activities with an amino acid analyzer. Anal Biochem 191:384-389.
6. Brusilov SW, Horwich AL. 2001. Urea cycle enzymes. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease, Vol 2, 8th edition. New York: McGraw-Hill. p 1909-1964.
7. Cartegni L, Shern LC, Krainer AR. 2002. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3:285-298.
8. Forsgren M, Attersand A, Lake S, Grunler J, Swiezewska E, Dallner G, Climent I. 2004. Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ. Biochem J 382:519-526.
9. Howell PL, Turner MA, Christodoulou J, Walker DC, Craig HJ, Simard LR, Ploder L, McInnes RR. 1998. Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active site. J Inherit Metab Dis 21(Suppl 1):72-85.
10. Kleijer WJ, Garritsen VH, Linnebank M, Mooyer P, Huijmans JG, Mustonen A, Simola KO, Arslan-Kirchner M, Battini R, Briones P, Cardo E, Mandel H, Tschiedel E, Wanders RJ, Koch HG. 2002. Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. J Inherit Metab Dis 25: 399-410.
11. Lanpher B, Brunetti-Pierri N, Lee B. 2006. Inborn errors of metabolism: the flux from Mendelian to complex diseases. Nat Rev Genet 7: 449-460.
12. Linnebank M, Homberger A, Rapp B, Winter C, Marquardt T, Harms E, Koch HG. 2000. Two novel mutations (E86A R113W) in arginino-succinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate gene. J Inherit Metab Dis 23:308-312.
13. Linnebank M, Tschiedel E, Häberle J, Linnebank A, Willenbring H, Kleijer WJ, Koch HG. 2002. Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a complete structure of the human ASL gene. Hum Genet 111:350-359.
14. McInnes R, Shih V, Chilton S. 1984. Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency. Proc Natl Acad Sci USA 81:4480-4484.
15. O'Brien WE, McInnes R, Kalumuck K, Adcock M. 1986. Cloning and sequence analysis of cDNA for human argininosuccinate lyase. Proc Natl Acad Sci USA 83:7211-7215.
16. Pagano MA, Andrzejewska M, Ruzzene M, Sarno S, Cesaro L, Bain J, Elliott M, Meggio F, Kazimierczuk Z, Pinna LA. 2004. Optimization of protein kinase CK2 inhibitors derived from 4,5,6,7-tetrabromobenzimidazole. J Med Chem 47:6239-6247.
17. Salviati L, Freehauf C, Sacconi S, DiMauro S, Thoma J, Tsai AC. 2004. Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome. Am J Med Genet A 128:195-198.
18. Sampaleanu LM, Vallée F, Thompson GD, Howell PL. 2001. Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R. Biochemistry 40:15570-15580.
19. Tuchman M, Jaleel N, Morizono H, Sheehy L, Lynch MG. 2002. Mutations and polymorphisms in the human ornithine transcarbamylase gene. Hum Mutat 19:93-107.
20. Walker DC, McCloskey DA, Simard LR, McInnes RR. 1990. Molecular analysis of human argininosuccinate lyase: Mutant characterization and alternative splicing of the coding region. Proc Natl Acad Sci USA 87: 9625-9629.
21. Walker DC, Christodoulou J, Craig HJ, Simard RL, Ploder L, Howell PL, McInnes RR. 1997. Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles. J Biol Chem 7:6777-6783.
22. Yu B, Howell PL. 2000. Intragenic complementation and the structure and function of argininosuccinate lyase. Cell Mol Life Sci 57:1637-1651.