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Læknablaðið - 15.03.2000, Page 16

Læknablaðið - 15.03.2000, Page 16
FRÆÐIGREINAR / ERFÐAGREINING ily harbouring the R752Q Vísindasjóður Sjúkrahúss Reykjavíkur fær þakkir mutation in the androgen fyrir fjárhagslegan stuðning. receptor. The probands and heterozygous carriers are indicated as filled circles and dotted circles, respec- tively. The rhombus indi- cates progenies (pedigree is partly encrypted to insure personal privacy). Heimildir 1. Griffin JE. Androgen resistance - The clinical and molecular spectrum. New Engl J Med 1992; 326: 611-8. 2. Quigley CA, De Bellis A, Marschke KB, El-Awady, Wilson EM, French FS. Androgen receptor defects: historical, clinical and molecular perspectives. Endocr Rev 1995; 16: 271-321. 3. Lubahn DB, Joseph DR, Sullivan PM, Willard HF, French FS, Wilson EM. Cloning of human androgen receptor comple- mentary DNA and localization to the X chromosome. Science 1988; 240: 327-30. 4. Lubahn DB, Brown TR, Simental JA, Higgs HN, Migeon CJ, Wilson EM, et al. Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity. Proc Natl Acad Sci USA 1989; 86: 9534-8. 5. Kuiper GGJM, Faber PW, van Rooij HJC, Van der Korput JAGM, Ris-Stalpers C, Klaassen P, et al. Structural organiza- tion of the human androgen receptor gene. J Mol Endo- crineol 1989; 2: R1-R4. 6. Wolf DA, Herzinger T, Hermeking H, Blaschke D, Horz W. Transcriptional and posttranscriptional regulation of human androgen receptor expression by androgen. Mol Endocrinol 1993: 7; 924-36. 7. Lubahn DB, Joseph DR, Sar M, Tan J-A, Higgs HN, Larsson RE, et al. The human androgen receptor: complementary deoxyribonucleic acid cloning, sequence analysis and gene expression in prostate. Mol Endocrinol 1988; 2:1265-75. 8. Chang C, Kokontis J, Liao S. Structural analysis of comple- mentary DNA and amino acid sequences of human and rat androgen receptors. Proc Natl Acad Sci USA 1988; 85: 7211-5. 9. Trapman J, Klaassen P, Kuiuper GGJM, Van der Korput JAGM, Faber PW, van Rooij HJC, et al. Cloning, structure and expression of a cDNA encoding the human androgen recep- tor. Biochem Biophys Res Commun 1988; 153:241-8. 10. Martinez E, Moore DD, Keller E, Pearce D, Heuvel JPV, Robinson V, et al. The nuclear receptor resource: a growing family. Nucl Acid Res 1998; 26:239-41. 11. Beato M, Herrlich P, Schíitz G. Steroid hormone receptors: many actors in search of a plot. Cell 1995; 83: 851-7. 12. Jenster G, Van der Korput JAGM, van Vroonhoven C, van der Kwast TH, Trapman J, Brinkman AO. Domains of the human androgen receptor involved in steroid binding, transcriptional activation and sucellular Iocalization. Mol Endocrinol 1991; 5: 1396-404. 13. Simental JA, Sar M, Lane MV, French FS, Wilson EM. Trans- criptional activation and nuclear targeting signals of the human androgen receptor. J Biol Chem 1991; 266: 510-8. 14. Gottlieb B, Lehvaslaiho H, Breitel LK, Lumbroso R, Pinsky L, Trifiro M. The androgen receptor gene mutations database. Nucl Acid Res 1998; 26: 234-8. 15. Bell GI, Karam JH, Rutter WJ. Polymorphic DNA region ad- jacent to the 5' end of the human insulin gene. Proc Natl Acad Sci USA 1981; 78: 5759-63. 16. Batch JA, Wiliams DM, Davies HR, Brown BD, Evans BAJ, Hughs IA, et al. Androgen receptor gene mutations identified by SSCP in fourteeen subjects with androgen insensitivity syndrome. Hum Mol Gen 1992; 1:497-503. 17. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. De- tection of polymorphisms of human DNA by gel electro- phoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 1989; 86:2766-70. 18. Brown TR, Newmark J, Ghirri P. Six naturally occurring mutations in the 144-base-pairs of exon E of the human androgen receptor gene. Program of the 74th Annual Meeting of The Endocrine Society, San Antonio, TX, 1992, p 428 [abstract 1506]. 19. Hiort O, Sinnecker GHG, Holterhus P-P, Nitsche EM, Kruse K. Inherited and de novo androgen receptor gene mutations: Investigation of single-case families. J Pediatr 1998; 131: 939- 43. 20. Leslie ND. Haldane was right: de novo mutations in androgen insensitivity syndrome. J Pediatr 1998; 131: 917-8. 21. Haldane JBS. The rate of spontaneous mutation of a human gene. J Genet 1935; 35:317-26. 166 Læknablaðið 2000/86

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