CHAPTER 32 – Germ Cell Failure and Ovarian Resistance: Human Genes and Disorders

作者: JOE LEIGH SIMPSON , ALEKSANDAR RAJKOVIC

DOI: 10.1016/B978-012444562-8/50033-1

关键词: Premature ovarian failureYolk sacInternal medicineAndrologyIndifferent GonadGonadal ridgeX chromosomeBiologyOvaryGerm cellEndodermEndocrinology

摘要: This chapter discusses the known disorders of ovarian failure and resistance related genes. Ovarian in humans have a variety causes. Failure may be complete or premature, occurring earlier (younger than 35 40 years) expected age menopause. Either premature has long been deduced to result from either deletions X chromosome Mendelian causes; however, only rarely is actual gene known. Primordial germ cells originate endoderm yolk sac migrate genital ridge form indifferent gonad with 46,XY 46,XX gonads being initially indistinguishable. Indifferent develop into testes if embryo, more specifically gonadal stroma, 46,XY. Testes become morphologically identifiable 7 8 weeks following conception (9 10 gestational menstrual weeks). Ovaries thereafter. In absence Y chromosome, develops an ovary. Transformation fetal ovaries begins at 50 55 days embryonic development. It debatable whether female (ovarian) differentiation truly default (constitutive) pathway, specific product directs primary differentiation.

参考文章(154)
L. Zelante, D. Bonneau, J. C. Chomel, J. Zlotogora, P. Gasparini, A. Kitzis, J. Kaplan, P. Amati, A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23. American Journal of Human Genetics. ,vol. 58, pp. 1089- 1092 ,(1996)
ME Conley, NB Spinner, BS Emanuel, PC Nowell, WW Nichols, A chromosomal breakage syndrome with profound immunodeficiency Blood. ,vol. 67, pp. 1251- 1256 ,(1986) , 10.1182/BLOOD.V67.5.1251.BLOODJOURNAL6751251
Joe Leigh Simpson, Sherman Elias, Genetics in obstetrics and gynecology Grune & Stratton. ,(1982)
Amanda Swain, Veronica Narvaez, Paul Burgoyne, Giovanna Camerino, Robin Lovell-Badge, Dax1 antagonizes Sry action in mammalian sex determination Nature. ,vol. 391, pp. 761- 767 ,(1998) , 10.1038/35799
Susan M. Galloway, Kenneth P. McNatty, Lisa M. Cambridge, Mika P.E. Laitinen, Jennifer L. Juengel, T. Sakari Jokiranta, Robert J. McLaren, Kaisu Luiro, Ken G. Dodds, Grant W. Montgomery, Anne E. Beattie, George H. Davis, Olli Ritvos, Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner. Nature Genetics. ,vol. 25, pp. 279- 283 ,(2000) , 10.1038/77033
S. A. Treloar, N. G. Martin, A. C. Heath, Longitudinal Genetic Analysis of Menstrual Flow, Pain, and Limitation in a Sample of Australian Twins Behavior Genetics. ,vol. 28, pp. 107- 116 ,(1998) , 10.1023/A:1021419907305
Daniel W. Cramer, Bernard L. Harlow, Robert L. Barbieri, Won G. Ng, Galactose‐1‐phosphate uridyl transferase activity associated with age at menopause and reproductive history Fertility and Sterility. ,vol. 51, pp. 609- 615 ,(1989) , 10.1016/S0015-0282(16)60608-8
Richard N. Yu, Masafumi Ito, Thomas L. Saunders, Sally A. Camper, J. Larry Jameson., Role of Ahch in gonadal development and gametogenesis Nature Genetics. ,vol. 20, pp. 353- 357 ,(1998) , 10.1038/3822