Harry Ostrer, New York University School of Medicine, New York, USA
Published online: September 2006
DOI: 10.1002/9780470015902.a0006235
The key event in male sex determination is the transmission of a Y chromosome from father to offspring. In the developing gonad, the sex-determining gene on the Y chromosome, SRY, triggers the expression of other genes that cause the gonad to develop as a testis. Hormones secreted by the developing testis influence the differentiation of male internal and external genitalia and other somatic features.
Keywords: development; sexual differentiation; gonadal; chromosome; transcription factor
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Figure 1. Organization of the specialized cells that comprise the seminiferous tubules of the human testis.
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Figure 2. Structure of the human embryo at 40–50 days of gestation, highlighting the gonadal ridge and migration of the germ cells from the primitive streak through the hindgut.
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Figure 3. Development of the human internal genitalia from the Wolffian and Mullerian ducts. The circles and dashed arrows indicate the migration of germ cells. MIF: Mullerian inhibiting factor.
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Figure 4. Development of the human external genitalia from the genital tubercle and labioscrotal folds and swellings.
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| References | |
| Dubin RA and Ostrer H (1994) Sry is a transcriptional activator. Molecular Endocrinology 8: 1182–1192. | |
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| Further Reading | |
| Capel B (2000) The battle of the sexes. Mechanisms of Development 92: 89–103. | |
| Goodfellow PN and Lovell-Badge R (1993) SRY and sex determination in mammals. Annual Reviews in Genetics 27: 71–92. | |
| Hanley NA, Hagan DM, Clement-Jones M, et al. (2000) SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development. Mechanics of Development 91: 403–407. | |
| Koopman P (2001) The genetics and biology of vertebrate sex determination. Cell 105: 843–847. | |
| McElreavey K, Vilain E, Abbas N, Herskowitz I and 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 of the United States of America 90: 3368–3372. | |
| Ostrer H (2000) Sexual differentiation. Seminars in Reproductive Medicine 18: 41–49. | |
| Ostrer H (2001) Sex determination: lessons from families and embryos. Clinical Genetics 59: 207–215. | |
| Roberts LM, Shen J and Ingraham HA (1999) New solutions to an ancient riddle: defining the differences between Adam and Eve. American Journal of Human Genetics 65: 933–942. | |
| book Wizemann TM and Pardue ML (eds.) (2001) Exploring the Biological Contributions to Human Health: Does Sex Matter? Washington, DC: National Academy of Sciences Press. | |
| Web Links | |
| ePath Sex determining region Y (SRY); LocusID: 6736. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=6736 | |
| ePath SRY-box 9 (SOX9); LocusID: 6662. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=6662 | |
| ePath Splicing factor (SF1); LocusID: 7536. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7536 | |
| ePath Wilms tumor 1 (WT1); LocusID: 7490. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7490 | |
| ePath Wingless-type MMTV integration site family, member 4 (WNT4); LocusID: 54361. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=54361 | |
| ePath Splicing factor 1 (SF1); MIM number: 601516. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?601516 | |
| ePath SRY-box 9 (SOX9); MIM number: 114290. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?114290 | |
| ePath Sex determining region Y (SRY); MIM number: 480000. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?480000 | |
| ePath Wingless-type MMTV integration site family, member 4 (WNT4); MIM number: 603490. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?603490 | |
| ePath Wilms tumor 1 (WT1); MIM number: 194070. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?194070 | |
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