Of marsupials and men: “Backdoor” dihydrotestosterone synthesis in male sexual differentiation
Tài liệu tham khảo
Andersson, 1996, Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency, J. Clin. Endocrinol. Metab., 81, 130
Auchus, 1998, Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer, J. Biol. Chem., 273, 3158, 10.1074/jbc.273.6.3158
Auchus, 2001, The genetics, pathophysiology, and management of human deficiencies of P450c17, Endocrinol. Metab. Clin. North Am., 30, 101, 10.1016/S0889-8529(08)70021-5
Auchus, 2004, The backdoor pathway to dihydrotestosterone, Trends Endocrinol. Metab., 15, 432, 10.1016/S1043-2760(04)00214-0
Baser, 2006, The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene, Hum. Mutat., 27, 297, 10.1002/humu.20317
Biason-Lauber, 2010, Control of sex development, Best Pract. Res. Clin. Endocrinol. Metab., 24, 163, 10.1016/j.beem.2009.12.002
Biswas, 1997, Expression cloning and characterization of oxidative 17β- and 3α-hydroxysteroid dehydrogenases from rat and human prostate, J. Biol. Chem., 272, 15959, 10.1074/jbc.272.25.15959
Bose, 1996, The pathophysiology and genetics of congenital lipoid adrenal hyperplasia, N. Engl. J. Med., 335, 1870, 10.1056/NEJM199612193352503
Couture, 2005, Comparison of crystal structures of human type 3 3α-hydroxysteroid dehydrogenase reveals an “induced-fit” mechanism and a conserved basic motif involved in the binding of androgen, Protein Sci., 14, 1485, 10.1110/ps.051353205
Dufort, 1996, Molecular cloning of human type 3 3 α -hydroxysteroid dehydrogenase that differs from 20 α -hydroxysteroid dehydrogenase by seven amino acids, Biochem. Biophys. Res. Commun., 228, 474, 10.1006/bbrc.1996.1684
Dufort, 2001, Human types 1 and 3 3 α -hydroxysteroid dehydrogenases: differential lability and tissue distribution, J. Clin. Endocrinol. Metab., 86, 841
Eckstein, 1987, Production of testosterone from progesterone by rat testicular microsomes without release of the intermediates 17 alpha-hydroxyprogesterone and androstenedione, Eur. J. Biochem., 166, 425, 10.1111/j.1432-1033.1987.tb13533.x
Flück, 2003, The 17,20-lyase activity of cytochrome P450c17 from human fetal testis favors the Δ5 steroidogenic pathway, J. Clin. Endocrinol. Metab., 88, 3762, 10.1210/jc.2003-030143
Flück, 2011, Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation, Am. J. Hum. Genet., 89, 201, 10.1016/j.ajhg.2011.06.009
French, 1990, Molecular basis of androgen insensitivity, Recent Prog. Horm. Res., 46, 1
Geissler, 1994, Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3, Nat. Genet., 7, 34, 10.1038/ng0594-34
Goto, 2006, In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development, J. Clin. Invest., 116, 953, 10.1172/JCI25091
Grumbach, 2003, Disorders of sex differentiation, 42
Gupta, 2003, 5alpha-reduced C21 steroids are substrates for human cytochrome P450c17, Arch. Biochem. Biophys., 418, 151, 10.1016/j.abb.2003.07.003
Jin, 2006, Multiple steps determine the overall rate of the reduction of 5 α -dihydrotestosterone catalyzed by human type 3 3 α -hydroxysteroid dehydrogenase: implications for the elimination of androgens, Biochemistry, 45, 13054, 10.1021/bi060591r
Kim, 2008, Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc, J. Clin. Endocrinol. Metab., 93, 696, 10.1210/jc.2007-2330
Lin, 1997, Expression and characterization of recombinant type 2 3 α -hydroxysteroid dehydrogenase (HSD) from human prostate: demonstration of bifunctional 3 α /17β-HSD activity and cellular distribution, Mol. Endocrinol., 11, 1971
MacLaughlin, 2004, Sex determination and differentiation, N. Engl. J. Med., 350, 367, 10.1056/NEJMra022784
Mahendroo, 2004, Steroid 5 α -reductase promotes 5 α -androstane-3 α, 17β-diol synthesis in immature mouse testes by two pathways, Mol. Cell. Endocrinol., 222, 113, 10.1016/j.mce.2004.04.009
McPhaul, 1993, Genetic basis of endocrine disease. 4. The spectrum of mutations in the androgen receptor gene that causes androgen resistance, J. Clin. Endocrinol. Metab., 76, 17
Miller, 2011, The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders, Endocr. Rev., 32, 81, 10.1210/er.2010-0013
Moisan, 1999, New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes, J. Clin. Endocrinol. Metab., 84, 4410
Nikolajeff, 1999, Spatial-mode control of vertical-cavity lasers with micromirrors fabricated and replicated in semiconductor materials, Appl. Opt., 38, 3030, 10.1364/AO.38.003030
Penning, 2000, Human 3 α -hydroxysteroid dehydrogenase isoforms (AKR1C1-AKR1C4) of the aldo-keto reductase superfamily: functional plasticity and tissue distribution reveals roles in the inactivation and formation of male and female sex hormones, Biochem J., 351, 67, 10.1042/0264-6021:3510067
Penning, 2004, Structure-function of human 3a-hydroxysteroid dehydrogenases: genes and proteins, Mol. Cell. Endocrinol., 215, 63, 10.1016/j.mce.2003.11.006
Penning, 1996, Mammalian 3 α -hydroxysteroid dehydrogenases, Steroids, 61, 508, 10.1016/S0039-128X(96)00093-1
Renfree, 1995, The marsupial male: a role model for sexual development, Philos. Trans. R. Soc. Lond. B Biol. Sci., 350, 243, 10.1098/rstb.1995.0158
Rheaume, 1992, Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene, Nat. Genet., 1, 239, 10.1038/ng0792-239
Rizner, 2003, Human type 3 3 α -hydroxysteroid dehydrogenase (aldo-keto reductase 1C2) and androgen metabolism in prostate cells, Endocrinology, 144, 2922, 10.1210/en.2002-0032
Russell, 1994, Steroid 5 α -reductase: two genes, two enzymes, Ann. Rev. Biochem., 63, 25, 10.1146/annurev.bi.63.070194.000325
Steckelbroeck, 2004, Human cytosolic 3 α -hydroxysteroid dehydrogenases of the aldo-keto reductase superfamily display significant 3β-hydroxysteroid dehydrogenase activity: implications for steroid hormone metabolism and action, J. Biol. Chem., 279, 10784, 10.1074/jbc.M313308200
Tajima, 2001, Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46, XY sex reversal and adrenal insufficiency, J. Clin. Endocrinol. Metab., 86, 3820, 10.1210/jcem.86.8.7748
Thigpen, 1993, Tissue distribution and ontogeny of steroid 5 alpha-reductase isozyme expression, J. Clin. Invest., 92, 903, 10.1172/JCI116665
Voutilainen, 1986, Developmental expression of genes for the stereoidogenic enzymes P450scc (20,22-desmolase), P450c17 (17 alpha-hydroxylase/17,20-lyase), and P450c21 (21-hydroxylase) in the human fetus, J. Clin. Endocrinol. Metab., 63, 1145, 10.1210/jcem-63-5-1145
Wilson, 1981, The hormonal control of sexual development, Science, 211, 1278, 10.1126/science.7010602
Wilson, 1994, Steroid 5 α -reductase 2 deficiency, Endocr. Rev., 14, 577
Wilson, 2002, The marsupial model for male phenotypic development, Trends Endocrinol. Metab., 13, 78, 10.1016/S1043-2760(01)00525-2
Wilson, 2003, 5 α -androstane-3 α,17 β -diol is formed in tammar wallaby pouch young testes by a pathway involving 5 α -pregnane-3 α,17 β -diol-20-one as a key intermediate, Endocrinology, 144, 575, 10.1210/en.2002-220721
Zachmann, 1972, Steroid 17,20-desmolase deficiency: a new cause of male pseudohermaphroditism, Clin. Endocrinol. (Oxf), 1, 369, 10.1111/j.1365-2265.1972.tb00407.x