A substitutional mutation in the DNA binding domain of the androgen receptor causes complete androgen insensitivity syndrome

Gynecological Endocrinology

Volumn 13, Issue 5, 1999, Pages 327-332

  Komori, S ^a   Sakata, K ^a   Kasumi, H ^a   Tsuji, Y ^a   Hamada, K ^b   Koyama, K ^a  

^a HYOGO COLLEGE OF MEDICINE   (Japan)

^b Sumiyoshi Municipal Hospital   (Japan)

Author keywords

Androgen receptor; Complete androgen insensitivity syndrome; DNA binding domain

Indexed keywords

ANDROGEN RECEPTOR; LUCIFERASE; TESTOSTERONE DERIVATIVE;

ADULT; AMINO ACID SUBSTITUTION; ANDROGEN INSENSITIVITY SYNDROME; ANIMAL CELL; ARTICLE; CASE REPORT; CELL STRAIN COS1; CLINICAL FEATURE; DNA BINDING; DNA DETERMINATION; DNA TRANSFECTION; GENE MUTATION; HUMAN; MALE; NONHUMAN; PRIORITY JOURNAL; PROTEIN DOMAIN; THERMOSTABILITY; TRANSCRIPTION REGULATION;

EID: 0032713102     PISSN: 09513590     EISSN: None     Source Type: Journal    
DOI: 10.3109/09513599909167575     Document Type: Article

References (20)

1. Imperato-McGinley J, Peterson RE. Male pseudohermaphroditism; the complexities of male phenotypic development. Am J Med 1976;61:251-72
2. Evans RM. The steroid and thyroid hormone receptor superfamily. Science 1988;240:889-95
3. McPhaul MJ, Marcelli M, Zoppi S, et al. Genetic basis of endocrine disease. 4. The spectrum of mutations in the androgen receptor gene that cause androgen resistance. J Clin Endocrinol Metab 1993;76:17-23
4. Lobaccaro J, Lumbroso S, Poujol N, et al. Molecular genetics of androgen insensitivity syndromes. Cell Mol Biol 1994;40:301-8
5. Quigley CA, De Bellis A, Marschke KB, et al. Androgen receptor defects: historical, clinical and molecular perspectives. Endocrine Rev 1995;16:271-321
6. Chang C, Kokontis J, Liao S. Molecular cloning of human and rat complementary DNA encoding androgen receptors. Science 1988;240:324-6
7. Trapman J, Klaassen P, Kuiper GGJM, et al. Cloning, structure and expression of cDNA encoding the human androgen receptor. Biochem Biophys Res Commun 1988;153:241-8
8. Kuiper GGJM, Faber PW, van Rooij HCJ, et al. Structural organization of the human androgen receptor gene. J Mol Endocrinol 1989;2:R1-R4
9. Sultan C, Lumbroso S, Poujol N, et al. Mutations of androgen receptor gene in androgen insensitivity syndromes. J Steroid Biochem Molec Biol 1995;46:519-30
10. Simental JA, Sar M, Lane MV, et al. Transcriptional activation and nuclear targeting signal of the human androgen receptor. J Biol Chem 1991;266:510-8
11. Gottlieb B. The androgen receptor gene mutation database. Nucleic Acids Res 1997;25:158-62
12. Kasumi H, Komori S, Yamasaki N, et al. Single nucleotide substitution of the androgen receptor gene in a case with receptor-positive androgen insensitivity syndrome. Acta Endocrinol 1995;128:355-60
13. Chang C, Kokontis J, Liao S. Structural analysis of complementary DNA and amino acid sequences of human and rat androgen receptors. Proc Natl Acad Sci USA 1988;85:7211-5
14. Sanger F, Nichklen S, Coulson AR. DNA sequencing with chain terminating inhibitors. Proc Natl Acad Sci USA 1977;74:5463-7
15. Komori S, Tanaka H, Sakata K, et al. Shortage of glutamine (CAG) homopolymeric repeats suppresses the expression of the androgen receptor in familial cases with complete androgen insensitivity syndrome. Gynecol Endocrinol 1998;12:1-8
16. Rundlett SE, Wu XP, Miesfeld RL. Functional characterization of the androgen receptor confirms that the molecular basis of androgen action is transcriptional regulation. Mol Endocrinol 1990;4:708-14
17. Luehrsen KR, de Wot JR, Walbot V. Transient expression analysis in plants using firefly luciferase reporter gene. In Wu R, ed. Methods in Enzymology, San Diego: Academic Press, 1992:397-414
18. Lobaccaro JM, Poujol N, Chiche L, et al. Molecular modeling and in vitro investigations of the human androgen receptor DNA-binding domain: application for the study of two mutations. Mol Cell Endocrinol 1996;116:137-47
19. Zoppi S, Marcelli M, Deslypere J-P, et al. Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance. Mol Endocrinol 1992;5:409-15
20. Luisi BF, Xu WX, Otwinowski Z, et al. Crystallographic analysis of the interaction of the glucocorticoid receptor with DNA. Nature 1992;352:497-505