Characterization of mutations at the mouse phenylalanine hydroxylase locus

Genomics

Volumn 39, Issue 3, 1997, Pages 402-405

  McDonald, J David ^a   Charlton, Cynthia K ^a  

^a WICHITA STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ARTICLE; DNA SEQUENCE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; MOUSE; NONHUMAN; PHENYLKETONURIA; PRIORITY JOURNAL;

EID: 0031081364     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.4508     Document Type: Article

References (26)

1. 1. Dahl, H. H., and Mercer, J. F. B. (1986). Isolation and sequence of a cDNA clone which contains the complete coding region of rat phenylalanine hydroxylase: Structural homology with tyrosine hydroxylase, glucocorticoid regulation, and use of alternate polyadenylation sites. J. Biol. Chem. 261: 4148-4153.
2. 2. DiLella, A. G., Kwok, S. C. M., Ledley, F. D., Marvitt, J., and Woo, S. L. C. (1986). Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene. Biochemistry 25: 743-749.
3. 3. Douglas, G. R., Jiao, J., Gingerich, J. D., Gossen, J. A., and Soper, L. M. (1995). Temporal and molecular characteristics of mutations induced by ethylnitrosourea in germ cells isolated from seminiferous tubules and in spermatozoa of lacZ transgenic mice. Proc. Natl. Acad. Sci. USA 92: 7485-7489.
4. 4. Dworniczak, B., Kalaydjieva, L., Pankoke, S., Aulehla-Scholz, C., Allen, G., and Horst, J. (1992). Analysis of exon 7 of the human phenylalanine hydroxylase gene: A mutation hot spot? Hum. Mutat. 1: 138-146.
5. 5. Eisensmith, R. C., and Woo, S. L. C. (1995). Molecular genetics of phenylketonuria: From molecular anthropology to gene therapy. Adv. Genet. 32: 199-271.
6. 6. Hayashi, K. (1991). PCR-SSCP: A simple and sensitive method for detection of mutations in the genomic DNA. PCR Methods Appl. 1: 34-38.
7. 7. Jennings, I. G., Kemp, B. E., and Cotton, R. G. H. (1991). Localization of cofactor binding sites with monoclonal anti-idiotype antibodies: Phenylalanine hydroxylase. Proc. Natl. Acad. Sci. USA 88: 5734-5738.
8. 8. Kwok, S. C. M., Ledley, F. D., DiLella, A. G., Robson, K., and Woo, S. L. C. (1985). Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry 24: 556-561.
9. 9. Ledley, F. D., Grenett, H. E., Dunbar, B. S., and Woo, S. L. (1990). Mouse phenylalanine hydroxylase. Homology and divergence from human phenylalanine hydroxylase. Biochem. J. 267: 399-405.
10. 10. McDonald, J. D. (1994). Mouse genetic models. In "Direct Gene Therapy" (J. Wolff, Ed.), pp. 26-39, Birkhauser Verlag, New York.
11. hph-5: A mouse mutant deficient in phenylalanine hydroxylase. Proc. Natl. Acad. Sci. USA 87: 1965-1967.
12. 12. McDonald, J. D., Bode, V. C., Dove, W. F., and Shedlovsky, A. (1990). The use of ethylnitrosourea to produce mouse models for human phenylketonuria and hyperphenylalaninemia. In "Progress in Clinical and Biological Research, Volume 340. Mutation and the Environment Part C: Somatic and Heritable Mutation, Adduction and Epidemiology" (M. Mendelsohn and R. Albertini, Eds.), pp. 407-413, Wiley-Liss, New York.
13. 13. McDonald, J. D., Shedlovsky, A., and Dove, W. F. (1990). Investigating inborn errors of phenylalanine metabolism by efficient mutagenesis of the mouse germline. In "Banbury Report 34, Biology of Mammalian Germ Cell Mutagenesis" (J. W. Allen, B. A. Bridges, M. F. Lyon, M. J. Moses, and L. B. Russell, Eds.), pp. 259-270, Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
14. 14. Morales, G., Requena, J. M., Jimenez-Ruiz, A., Lopez, M. C., Ugarte, M., and Alonso, C. (1990). Sequence and expression of Drosophila phenylalanine hydroxylase mRNA. Gene 93: 213-219.
15. 15. Onishi, A., Benkovic, S. J., and Liotta, L. J. (1991). Cloning and expression of Chromobacterium violaceum phenylalanine hydroxylase in Escherichia coli and comparison of amino acid sequence with mammalian aromatic amino acid hydroxylases. J. Biol. Chem. 266: 18454-18459.
16. 16. Orita, M., Suzuki, Y., Seikya, T., and Hayashi, K. (1989). Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5: 874-879.
17. 17. Provost, G. S., and Short, J. M. (1994). Characterization of mutations induced by ethylnitrosourea in seminiferous tubule germ cells of transgenic B6C3F1 mice. Proc. Natl. Acad. Sci. USA 91: 6564-6568.
18. 18. Russell, W. L., Kelly, E. M., Hunsicker, P. R., Bangham, J. W., Maddux, S. C., and Phipps, E. L. (1979). Specific locus test shows ethylnitrosourea to be the most potent mutagen in the mouse. Proc. Natl. Acad. Sci. USA 76: 5818-5819.
19. 19. Scriver, C., Eisensmith, R., and Woo, S. (1994). The hyperphenylalaninemias of man and mouse. Annu. Rev. Genet. 28: 141-166.
20. 20. Scriver, C., Hoang, L., Byck, S., and Prevost, L. (1996). PAH Gene Mutation Analysis Consortium, McGill University, Montreal. http://blizzard.cc.mcgill.ca/pahdb/
21. 21. Shedlovsky, A., Guenet, J. L., Johnson, L. L., and Dove, W. F. (1986). Induction of recessive lethal mutations in the T/t-H-2 region of the mouse genome by a point mutagen. Genet. Res. 47: 135-142.
22. 22. Shedlovsky, A., McDonald, J. D., Symula, D., and Dove, W. F. (1993). Mouse models for human PKU. Genetics 134: 1205-1210.
23. 23. Smithies, O. (1993). Animal models of human genetic diseases. Trends Genet. 9: 112-116.
24. 24. Soto, D., and Sukumar, S. (1992). Improved detection of mutations in the p53 gene in human tumors as single-stranded conformation polymorphs and double-stranded heteroduplex DNA. PCR Methods Appl. 2: 96-98.
25. 25. Takarada, Y., Kalanin, J., and Yamashita, K. (1993). Phenylketonuria mutant alleles in different populations: Missense mutation in exon 7 of phenylalanine hydroxylase gene. Clin. Chem. 39: 2354-2355.
26. 26. Woo, S. L. C., Lidsky, A. S., Güttler, F., Chandra, T., and Robson, K. J. H. (1983). Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis of classical phenylketonuria. Nature 306: 151-155.