Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes crigler-najjar syndrome type 2

Genomics

Volumn 18, Issue 1, 1993, Pages 171-173

  Moghrabi, Nabil ^a,b   Clarke, Douglas J ^a   Boxer, Maureen ^b   Burchell, Brian ^a  

^a Department of Biochemical Medicine ^*  (United Kingdom)

^b UNIVERSITY OF DUNDEE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 0027524805     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1993.1451     Document Type: Article

References (12)

1. Bosma, P. J., Roy Chowdury, N., Goldhoom, B. G., Hofker, M. H., Oude Elferink, R. P. J., Jansen, P. L. M.; and Roy Chowdury, J. (1992). Sequence of exons and the flanking regions of human bilirubin UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with Crigler-Najjar syndrome, type I. Hepatology 15: 941-947.
2. Bosma, P. J., Roy Chowdury, J., Huang, T. J., Lahiri, P., Oude Elferink, R. P. J., Van-Es, H. H. G., Lederstein, M., Whitington, P. F., Jansen, P. L. M., and Roy Chowdury, N. (1992). Mechanisms of inherited deficiencies of multiple UDP-glucuronosyl-transferase isoforms in two patients with Crigler-Najjar syndrome type I. FASEB J. 6: 2859-2863.
3. Burchell, B., Nebert, D. W., Nelson, D. R., Bock, K. W., Iyanagi, T., Jansen, P. L. M., Lancet, D., Mulder, G. J., Roy Chowdury, J., Siest, G., Tephly, T. R., and Mackenzie, P. I. (1991). The UDP-glucuronosyltransferase gene super family: Suggested nomenclature based on evolutionary divergence. DNA Cell Biol. 10: 487-494.
4. Eisensmith, R. C., and Woo, S. L. C. (1992). Molecular basis of phenylketoneuria and related hyperphenylaianinemias: Mutations and polymorphisms in the human phenylalanine hydroxylase gene. Hum. Mutat. 1: 13-23.
5. Gollan, J. L., Huang, S. N., Billing, B., and Sherlock, S. (1975). Prolonged survival in three brothers with severe type 2 Crigler-Najjar syndrome. Gastroenterology 68: 1543-1555.
6. Moghrabi, N., Clarke, D. J., Burchell, B., and Boxer, M. (1993). Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type 1: Its implication in carrier detection and prenatal diagnosis. Am. J. Hum. Genet. 53, in press.
7. Owens, I. S., and Ritter, J. K. (1992). The novel bilirubin/phenol UDP-glucuronosyltransferase UGTl gene locus: Implications for multiple nonhemolytic familial hyperbilirubinemia phenotypes. Pharmacogenetics 2: 93-108.
8. Robertson, K. J., Clarke, D., Sutherland, L., Wooster, R., Coughtrie, M. W. H., and Burchell, B. (1991). Investigation of the molecular basis of the genetic deficiency of UDP-glucuronosyltransferase in Crigler-Najjar syndrome. J. Inherited Metab. Dis. 14: 563-579.
9. Roy Chowdury, J., Wolkoff, A. W., and Arias, I.M. (1989). Hereditary jaundice and disorders of bilirubin metabolism. In "The Metabolic Basis of Inherited Disease" (C. R. Scriver, A. I. Bean-det, W. S. Sly, and D. Valle, Eds.), Vol. 6, pp. 1085-1094, Mc Graw-Hill, New York.
10. Ritter, J. K., Chen, F., Sheen, Y. Y., Tran, H. M., Kimura, S., Yeatman, M. T., and Owens, I. S. (1992a). A novel complex locus UGTl encodes human bilirubin, phenol and other UDP-glucur- onosyltransferase isoenzymes with identical carboxyl termini. J. Biol. Chem. 267: 3257-3261.
11. Ritter, J. K., Yeatman, M. T., Ferreira, P., and Owens, I. S. (1992b). Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGTl gene complex of a Crigler-Najjar type-I patient. J. Clin. Invest. 90: 150-155.
12. Sutherland, J. L., bin-Senafi, S., Ebner, T., Clarke, D. J., and Burchell, B. (1992). Characterisation of a human bilirubin UDP-glucuronosyltransferase stably expressed in hamster lung fibroblast cell cultures. FBBS Lett. 308: 161-164.