Splice-site mutations: A novel genetic mechanism of Crigler-Najjar syndrome type 1

American Journal of Human Genetics

Volumn 62, Issue 3, 1998, Pages 585-592

  Gantla, Shailaja ^a   Bakker, Conny T M ^b   Deocharan, Bishram ^a   Thummala, Narsing R ^a   Zweiner, Jeffry ^d   Sinaasappel, Maarten ^c   Chowdhury, Jayanta Roy ^a   Bosma, Piter J ^b   Chowdhury, Namita Roy ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^d CHILDREN S MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCURONOSYLTRANSFERASE;

ADULT; ARTICLE; CASE REPORT; CRIGLER NAJJAR SYNDROME; GENE DELETION; GENE MUTATION; HUMAN; INTRON; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING;

EID: 0031971043     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301756     Document Type: Article

References (26)

1. Arias IM, Gartner LM, Cohen M, Ezzer JB, Levi AJ (1969) Chronic non-hemolytic unconjugated hyperbilirubinemia with glucuronyltransferase deficiency. Am J Med 47: 395-409
2. Bosma PJ, Roy Chowdhury N, Goldhoorn BG, Hofker MH, Oude Elferink RPJ, Jansen PLM, Roy Chowdhury J (1992a) Sequence of exons and the flanking regions of human bilirubin UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with the Crigler-Najjar syndrome type I. Hepatology 15:941-947
3. Bosma PJ, Roy Chowdhury J, Huang TJ, Lahiri P, Oude Elferink RPJ, Van ES HHG, Lederstein M, et al (1992b) Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome type I. FASEB J 6:2859-2863
4. Bosma PJ, Seppen J, Goldhoorn B, Bakker C, Oude Elfrink RPJ, Roy Chowdhury J, Roy Chowdhury N, et al (1994) Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man. J Biol Chem 269: 17960-17964
5. Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159
6. Crigler JF, Najjar VA (1952) Congenital familial non-hemolytic jaundice with kernicterus. Pediatrics 10:169-180
7. Dutton GJ (1980) Glucuronidation of drugs and other compounds. CRC Press, Boca Raton, FL
8. Goldsmith ME, Humphries RK, Ley T, Cline A, Kantor JA, Nienhusis AW (1983) Silent nucleotide substitution in a β-thalassaemia globin gene activates splice site in coding sequence RNA. Proc Natl Acad Sci USA 80:2318-2322
9. 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
10. Labrune PH, Myara A, Hadchouel M, Ronchi F, Bernard O, Trivin F, Roy Chowdhury N, et al (1994) Genetic heterogeneity of Crigler-Najjar syndrome type 1: a study of 14 cases. Hum Genet 94:693-697
11. Lerner MR, Boyle JA, Mount SM, Wolin SL, Steitz JA (1980) Are snRNPs involved in splicing? Nature 283:220-224
12. Mackenzie PI, Owens IS, Burchell B, Bock KW, Bairoch A, Belanger A, Fournel-Gigleux S, et al (1997) The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence. Pharmacogenetics 7:255-269
13. Moghrabi N, Clarke DJ, Boxer M, Burchell B (1993a) Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2. Genomics 18:171-173
14. Moghrabi N, Clarke DJ, Burchell B, Boxer M (1993b) Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type 1: implication in carrier detection and prenatal diagnosis. Am J Hum Genet 53: 722-729
15. Knossos RNA. Blood 64:311-313
16. Orkin SH, Kazazian HH Jr, Antonarakis SE, Ostrer H, Goff SC, Sexton JP (1982) Abnormal RNA processing due to the exon mutation of beta-E globin gene. Nature 300:768-769
17. 1, encodes human bilirubin, phenol and other UDP-glucuronosyltransferase isoenzymes with identical carboxytermini. J Biol Chem 267:3257-3261
18. Ritter JK, Yeatman MT, Ferriera P, Owens IS (1992b) Identification of a genetic alteration in the code for bilirubin-UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar syndrome type 1 patient. J Clin Invest 90: 150-155
19. Rogers J, Wall R (1980) A mechanism for RNA splicing. Proc Natl Acad Sci USA 77:1877-1879
20. Roy Chowdhury J, Arias IM (1986) Disorders of bilirubin conjugation. In: Ostrow JD (ed) Bile pigments and jaundice. Marcel Dekker, New York, pp 317-332
21. Roy Chowdhury J, Novikoff PM, Roy Chowdhury N, Novikoff AB (1985) Distribution of uridine diphosphoglucuronate glucuronosyl transferase in rat tissues. Proc Natl Acad Sci USA 82:2990-2994
22. Schmidt R, Axelrod J, Hammaker L, Swarm RL (1958) Congenital jaundice in rats, due to a defect in glucuronide formation. J Clin Invest 37:1123-1130
23. Seppen J, Bosma PJ, Goldhoorn BG, Bakker CTM, Roy Chowdhury J, Roy Chowdhury N, Jansen PLM, et al (1994) Discrimination between Crigler-Najjar syndrome type I and type II by expression of mutant bilirubin uridinediphosphoglucuronate glucuronosyltransferase. J Clin Invest 94: 2385-2391
24. Steitz JA, Black DL, Gerke V, Parker KA, Kramer A, Frendewey D, Keller W (1988) Functions of the abundant U-sn RNPs. In: Birnsteil ML (ed) Structure and function of major and minor small nuclear ribonucleoprotein particles. Springer-Verlag, Berlin, pp 115-154
25. Treisman R, Orkin SH, Maniatis T (1983) Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes. Nature 302:591-596
26. Yamada S, Tomatsu S, Sly WS, Islam R, Wenger DA, Fukuda S, Sukegawa K, et al (1995) Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the β-glucuronidase gene that creates a novel 5′-splice site. Hum Mol Genet 4:651-655