Molecular analysis of sex determination in sex-reversed and true hermaphroditism

Brazilian Journal of Medical and Biological Research

Volumn 29, Issue 6, 1996, Pages 743-748

  Copelli, S B ^a,b   Bergada C ^b   Billerbeck, A E C ^c   Coldberg, A C ^c   Kalil, J ^c   Damiani, D ^c   Targovnik, H M ^a  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^b HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Amelogenin gene; Sex reversed hermaphroditism; SRY gene; True hermaphroditism; Y heterochromatin region

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; FEMALE; GENETICS; HERMAPHRODITISM; HUMAN; INFANT; MALE; PRESCHOOL CHILD; REPRODUCTION; SEX DETERMINATION; Y CHROMOSOME;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; HERMAPHRODITISM; HUMANS; INFANT; MALE; SEX DETERMINATION (ANALYSIS); SEX REVERSAL, GONADAL; Y CHROMOSOME;

EID: 0030155951     PISSN: 0100879X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. Sinclair A, Berta P, Palmer M, Hawkins R, Griffiths B, Smith M. Foster J, Frischauf AM, Lovell-Badge R & Goodfellow PN (1990). A gene from the human sex-determining region encodes a protein with homology to a conserved DMA-binding motif. Nature, 346: 240-244.
2. McElreavey K, Vilain E, Abbas N, Herskowitz I & Fellous M (1993). A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development. Proceedings of the National Academy of Sciences, USA. 90: 3368-3372.
3. Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths B, Goodfellow PN & Fellous M(1990). Genetic evidence equating SRY and the testis determining factor. Nature, 348: 448-450.
4. Hawkins JR, Taylor A, Berta P, Levilliers J, Van der Auwera B & Goodfellow PN (1992). Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. Human Genetics, 88: 471-474.
5. McElreavey K, Vilain E, Abbas N, Costa JM, Souleyreau N, Kucheria K, Boucekkine C, Thibaud E, Brauner R, Flamant F & Fellous M (1992). XY sex reversal associated with a deletion 5′ to the SRY "HMG box" in the testis determining region. Proceedings of the National Academy of Sciences, USA, 89: 11016-11020.
6. Damiani D. Billerbeck AE, Goldberg ACK, Setian N, Fellous M & Kalil J (1990). Investigation of ZFY gene in XX true hermaphroditism and Swyer syndrome. Human Genetics, 85: 85-88.
7. Saiki R, Gelfand D, Stoffel S, Scharf S, Higuchi R, Horn G, Mullis K & Erlich H (1988). Primer-directed enzymatic amplification of DNA with thermo'stable DNA polymerase. Science, 239: 487-490.
8. Kogan S, Doherty M & Gitschier J (1987). An improved method for prenatal diagnosis of genetic disease by analysis of amplified DNA sequences. New England Journal of Medicine, 117: 985-990.
9. Nakahori Y, Hamano K, Iwaya M & Nakagome Y (1991). Sex identification by polymerase chain reaction using X-Y homologous primer. American Journal of Medical Genetics. 39: 472-473.
10. Koopman P, Gubbay J, Vivian N, Goodfellow PN & Lovell-Badge R (1991). Male development of chromosomally female mice transgenic for SRY. Nature, 351: 117-121.
11. Ogata T & Matsuo N (1994). Testis determining gene(s) on the X chromosome short arm: chromosomal localisation and possible role in testis determination. Journal of Medical Genetics. 31: 349-350.
12. Bardoni B, Zanaria E, Guioli G, Worley K, Tonini G, Ferrante E, Chiumello G, McCabe E, Fraccaro M, Zuffardi O & Camerino G (1994). A dosage sensitive locus at chromosome Xp21 is involved in male to male sex reversal. Nature Genetics, 7: 497-501.