Molecular analysis of the 5α-steroid reductase type 2 gene in a family with deficiency of the enzyme

American Journal of Medical Genetics

Volumn 69, Issue 1, 1997, Pages 69-72

  Vilchis, F ^a   Canto, P ^a   Chavez B ^a   Ulloa Aguirre, A ^a   Mendez J P ^b  

^a INSTITUTO NACIONAL DE CIENCIAS MÉDICAS Y NUTRICIÓN SALVADOR ZUBIRÁN   (Mexico)

^b HOSPITAL DE PEDIATRÍA   (Mexico)

Author keywords

5 reductase type 2; male pseudohermaphroditism; steroid 5 reductase; steroid 5 reductase 2 deficiency

Indexed keywords

DNA; STEROID 5ALPHA REDUCTASE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; ENZYME DEFICIENCY; FAMILY STUDY; FEMALE; GENE MUTATION; HUMAN; MALE PSEUDOHERMAPHRODITISM; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

CHILD; CHILD, PRESCHOOL; EXONS; FAMILY; FEMALE; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TESTOSTERONE 5-ALPHA-REDUCTASE;

EID: 0031046103     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970303)69:1<69::AID-AJMG13>3.0.CO;2-M     Document Type: Article

References (14)

1. Andersson S, Berman DM, Jenkins EP, Russell DW (1991): Deletion of steroid 5α-reductase 2 gene in male pseudohermaphroditism. Nature 354:159-161.
2. Imperato-McGinley J, Guerrero L, Gautier T, Peterson RE (1974): Steroid 5α-reductase deficiency in man: An inherited form of male pseudohermaphroditism. Science 186:1213-1215.
3. Labrie F, Sugimoto Y, Luu-The V, Simard J, Lachance Y, Bachvarov D, Lablanc G, Durocher F, Paquet N (1992): Structure of human type II 5α-reductase gene. Endocrinology 131:1571-1573.
4. Levy MA, Brandt M, Sheedy KM, Holt DA, Heaslip JI, Trill JJ, Ryan PJ, Morris RA, Garrison LM, Bergsma DJ (1995): Cloning, expression and functional characterization of type 1 and type 2 steroid 5α-reductases from Cynomolgus monkey: comparisons with human and rat isoenzymes. J Steroid Biochem Mol Biol 52:307-319.
5. Méndez JP, Ulloa-Aguirre A, Imperato-McGinley J, Brugmann A, Delfin M, Chávez B, Shackleton C, Kofman-Alfaro S, Pérez-Palacios G (1995): Male pseudohermaphroditism due to primary 5α-reductase deficiency: Variation in gender identity reversal in seven mexican patients from five different pedigrees. J Endocrinol Invest 18:205-213.
6. Normington K, Russell DW (1992): Tissue distribution and kinetic characteristics of rat steroid 5α-reductase isozymes. J Biol Chem 267:19548-19554.
7. Orita M, Suzuki Y, Sekiya T, Hayashi K (1989): Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874-879.
8. Pérez-Palacios G, Chávez B, Méndez JP, Imperato McGinley J, Ulloa-Aguirre A (1987): The syndromes of androgen resistance revisited. J steroid Biochem 27:1101-1108.
9. Sanger F, Nicklen S, Coulson AR (1977): DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74:5463-5467.
10. Silver RI, Wiley EL, Thigpen AE, Guileyardo JM, McConnell JD, Russell DW (1992): Cell type specific expression of steroid 5α-reductase 2. J Urol 152:438-442.
11. Thigpen AE, Davies DL, Milatouch A, Mendoca BB, Imperato-McGinley J, Griffin JE, Fracke V, Wilson JD, Russell DW (1992): Molecular genetics of steroid 5α-reductase 2 deficiency. J Clin Invest 90: 799-809.
12. Walsh PC, Madden JD, Harrod MJ, Goldstein JL, MacDonald PC, Wilson JD (1974): Familial incomplete male pseudohermaphroditism, type 2: Decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias. N Engl J Med 291: 944-949.
13. Wigley CW, Prihoda JS, Mowszowicz I, Mendoca BB, New MI, Wilson JD, Russell DW (1994): Natural mutagenesis study of the human steroid 5α-reductase 2 isozyme. Biochemistry 33:1265-1270.
14. Wilson JD, Griffin JE, Russell DW (1993): Steroid 5α-reductase 2 deficiency. Endocr Rev 14:577-593.