A single base mutation in the androgen receptor gene causes androgen insensitivity in the testicular feminized rat.

Yarbrough, W G; Quarmby, V E; Simental, J A; Joseph, D R; Sar, M; Lubahn, D B; Olsen, K L; French, F S; Wilson, E M

doi:10.1016/s0021-9258(19)38972-0

Cited by 200Sexual Differentiation and DisordersGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesEstrogen and related hormone effects

A single base mutation in the androgen receptor gene causes androgen insensitivity in the testicular feminized rat.

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Yarbrough, W G, Quarmby, V E, Simental, J A, Joseph, D R, Sar, M, Lubahn, D B, Olsen, K L, French, F S +1 more·1990·Journal of Biological Chemistry

DOI 10.1016/s0021-9258(19)38972-0

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Abstract

The complete form of androgen insensitivity is an inherited X-linked syndrome in which genetic males fail to undergo masculinization in utero due to defective functioning of the androgen receptor (AR). The molecular basis of androgen insensitivity was investigated in the testicular feminized (Tfm) rat with this syndrome. AR mRNA size and amount, as well as nuclear AR protein revealed by immunocytochemistry, suggested normal expression of the AR gene in the Tfm rat. Sequence analysis of the AR coding region from Tfm and wild-type littermate male rats revealed a single transition mutation, guanine to adenine, within exon E, changing arginine 734 to glutamine within the steroid-binding domain of the AR. This arginine is highly conserved among the family of nuclear receptors and may be part of a phosphorylation recognition site. A recreated mutant AR (Arg734----Gln) expressed in COS cells had only 10-15% of the androgen-binding capacity of wild-type AR; the reduced androgen-binding capacity was similar to that of AR in tissue extracts of the Tfm rat. Stimulation of transcriptional activity by the recreated mutant AR was reduced relative to wild-type AR in cotransfection assays in CV1 cells using as reporter plasmid the mouse mammary tumor virus promoter linked to the chloramphenicol acetyltransferase gene. Thus, arginine 734 appears essential for normal AR function both in androgen binding and transcriptional activation. Absence of these functions results in androgen insensitivit…

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The tfm mutation in the rat is a consequence of a point mutation in the androgen receptor gene corresponding to the steroid-binding domain, resulting in largely nonfunctional androgen receptors.
“In the rat (Stanley, Gumbreck, Allison, & Easley, 1973), the tfm is a consequence of a point mutation in the androgen receptor gene corresponding to the steroid-binding domain (Yarbrough et al., 1990) resulting in largely nonfunctional androgen receptors.”
From Play fighting in androgen-insensitivetfm rats: Evidence that androgen receptors are necessary for the development of adult playful attack and defense (2006) · cites this paper as Yarbrough et al., 1990
In the tfm mutation, it is the androgen receptor, not the estrogen receptor that is nonfunctional.
“Given that in the tfm mutation, it is the androgen receptor, not the estrogen receptor that is nonfunctional (Yarbrough et al., 1990)”
From Play fighting in androgen-insensitivetfm rats: Evidence that androgen receptors are necessary for the development of adult playful attack and defense (2006) · cites this paper as Yarbrough et al., 1990

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Androgens regulate aromatase cytochrome P450 messenger ribonucleic acid in rat brain
Abdelgadir, S. E., Resko, J. A., Ojeda, S. R., Lephart, E. D., McPhaul, M. J., & Roselli, C. E. (1994) · Endocrinology · doi:10.1210/endo.135.1.8013375 · Cited by 203 · see citing works
Testosterone activates mitogen-activated protein kinase and the cAMP response element binding protein transcription factor in Sertoli cells
Fix, C., Jordan, C. L., Cano‐Sánchez, P., & Walker, W. H. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0404278101 · Cited by 196 · see citing works
Identification of three proline-directed phosphorylation sites in the human androgen receptor
Zhou, Z. X., Kemppainen, J., & Wilson, E. M. (1995) · Molecular Endocrinology · doi:10.1210/mend.9.5.7565807 · Cited by 186 · see citing works
Self-citation
Molecular insights into androgen actions in male and female reproductive function from androgen receptor knockout models
Walters, K. A., Simanainen, U., & Handelsman, D. J. (2010) · Human Reproduction Update · doi:10.1093/humupd/dmq003 · Cited by 183 · see citing works
Endocrine screening methods workshop report: Detection of estrogenic and androgenic hormonal and antihormonal activity for chemicals that act via receptor or steroidogenic enzyme mechanisms
Gray, L. E., KELCE, W. R., Wiese, T. E., Tyl, R. W., Gaido, K. W., Cook, J. C., Klinefelter, G. R., Desaulniers, D. M., Wilson, E. M., Zacharewski, T. R., et al. (1997) · Reproductive Toxicology · doi:10.1016/s0890-6238(97)00025-7 · Cited by 181 · see citing works
Self-citation
Aromatase activity in the rat brain: Hormonal regulation and sex differences
Roselli, C. E., & Resko, J. A. (1993) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/0960-0760(93)90254-t · Cited by 178 · see citing works
A Frameshift Mutation Destabilizes Androgen Receptor Messenger RNA in theTfmMouse
Charest, N. J., Zhou, Z.-X., Lubahn, D. B., Olsen, K. L., Wilson, E., & French, F. S. (1991) · Molecular Endocrinology · doi:10.1210/mend-5-4-573 · Cited by 175 · see citing works
Self-citation
β-Catenin Binds to the Activation Function 2 Region of the Androgen Receptor and Modulates the Effects of the N-Terminal Domain and TIF2 on Ligand-Dependent Transcription
Song, L.-N., Herrell, R., Byers, S., Shah, S., Wilson, E. M., & Gelmann, E. P. (2003) · Molecular and Cellular Biology · doi:10.1128/mcb.23.5.1674-1687.2003 · Cited by 169 · see citing works
“Since there was no direct interaction between AR(1-503) and VP16/ catenin in the mammalian two-hybrid assay, we conclude that AR(1-503) and VP16/ -catenin might be able to bind to the androgen receptor LBD independently, resulting in a synergistic enhancement of transcription.”
InfluentialSelf-citation
A frame-shift mutation in the androgen receptor gene causes complete androgen insensitivity in the testicularfeminized mouse
He, W. W., Kumar, M. V., & Tindall, D. J. (1991) · Nucleic Acids Research · doi:10.1093/nar/19.9.2373 · Cited by 161 · see citing works
Molecular Mechanisms of Androgen Action
Lindzey, J. K., Kumar, M. V., Grossman, M., Young, C. Y. F., & Tindall, D. J. (1994) · Vitamins and hormones · doi:10.1016/s0083-6729(08)61151-6 · Cited by 146 · see citing works
Effects of Flutamide and Finasteride on Rat Testicular Descent
Spencer, J. R., TORRADO, T., Sanchez, R. S., Vaughan, E. D., & Imperato‐McGinley, J. (1991) · Endocrinology · doi:10.1210/endo-129-2-741 · Cited by 146 · see citing works
Rat Preputial Sebocyte Differentiation Involves Peroxisome Proliferator-Activated Receptors11Preliminary reports were presented at IV International Dermatology Symposium, April 11 1997, Berlin; Biomedicine ‘97, April 25 1997, Washington, DC; and The Midwest Society for Pediatric Research, Chicago, September 25 1997.
Rosenfield, R. L., Kentsis, A., Deplewski, D., & Ciletti, N. A. (1999) · Journal of Investigative Dermatology · doi:10.1046/j.1523-1747.1999.00487.x · Cited by 145 · see citing works
Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene
McPhaul, M. J., Marcelli, M., Zoppi, S., Wilson, C. M., Griffin, J. E., & Wilson, J. D. (1992) · Journal of Clinical Investigation · doi:10.1172/jci116093 · Cited by 140 · see citing works
Osteoblast Deletion of Exon 3 of the Androgen Receptor Gene Results in Trabecular Bone Loss in Adult Male Mice
Notini, A. J., McManus, J. F., Moore, A., Bouxsein, M., Jimenez, M., Chiu, W. M., Glatt, V., Kream, B. E., Handelsman, D. J., Morris, H. A., et al. (2006) · Journal of Bone and Mineral Research · doi:10.1359/jbmr.061117 · Cited by 138 · see citing works
“because of a single base mutation in the ligand-binding domain of the AR gene((37)) displays a female-like bone struc-”
Background
Biology and Diseases of Rats
Kohn, D. F., & Clifford, C. B. (2002) · Elsevier eBooks · doi:10.1016/b978-012263951-7/50007-7 · Cited by 126 · see citing works
Human estrogen receptor mutants with altered estrogen and antiestrogen ligand discrimination.
Pakdel, F., & Katzenellenbogen, B. S. (1992) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)50749-9 · Cited by 121 · see citing works
Specific Recognition of Androgens by Their Nuclear Receptor
Poujol, N., Wurtz, J., Tahiri, B., Lumbroso, S., Nicolas, J., Moras, D., & Sultan, C. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m001999200 · Cited by 122 · see citing works
Mechanisms of Androgen Induction of Sebocyte Differentiation
Rosenfield, R. L., Deplewski, D., Kentsis, A., & Ciletti, N. (1998) · Dermatology · doi:10.1159/000017864 · Cited by 156 · see citing works
Androgens and mammalian male reproductive tract development
Murashima, A., Kishigami, S., Thomson, A. A., & Yamada, G. (2014) · Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms · doi:10.1016/j.bbagrm.2014.05.020 · Cited by 121 · see citing works
Androgens Increase Survival of Adult-Born Neurons in the Dentate Gyrus by an Androgen Receptor-Dependent Mechanism in Male Rats
Hamson, D. K., Wainwright, S. R., Taylor, J., Jones, B. A., Watson, N. V., & Galea, L. A. M. (2013) · Endocrinology · doi:10.1210/en.2013-1129 · Cited by 119 · see citing works
Response elements of the androgen-regulated C3 gene.
Tan, J.-A., Marschke, K. B., Ho, K. C., Perry, S. T., Wilson, E. M., & French, F. S. (1992) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)42855-4 · Cited by 116 · see citing works
Self-citation
Sex differences and laterality in astrocyte number and complexity in the adult rat medial amygdala
Johnson, R. T., Breedlove, S. M., & Jordan, C. L. (2008) · The Journal of Comparative Neurology · doi:10.1002/cne.21859 · Cited by 114 · see citing works
“Testicular feminized mutant (TFM) male rats lack functional AR and are insensitive to androgens (Yarbrough et al., 1990), and thus represent an important tool for assessing the role of androgens in the origin of neural sex differences.”
Background
Molecular Action of Androgen in the Normal and Neoplastic Prostate
Kokontis, J. M., & Liao, S. (1998) · Vitamins and hormones · doi:10.1016/s0083-6729(08)60937-1 · Cited by 111 · see citing works
Mouse Spermatogenesis Requires Classical and Nonclassical Testosterone Signaling1
Toocheck, C., Clister, T., Shupe, J. A., Crum, C. M., Ravindranathan, P., Lee, T.-K., Ahn, J., Raj, G. V., Sukhwani, M., Orwig, K. E., et al. (2015) · Biology of Reproduction · doi:10.1095/biolreprod.115.132068 · Cited by 108 · see citing works
“testicular feminization (tfm) AR mutant was previously named p5ARD [32]”
BackgroundMethodInfluential
Role of androgens and the androgen receptor in remodeling of spine synapses in limbic brain areas
Hajszán, T., MacLusky, N. J., & Léránth, C. (2008) · Hormones and Behavior · doi:10.1016/j.yhbeh.2007.12.007 · Cited by 109 · see citing works
“In the rat, the Tfm mutation results in the transcription of a defective androgen receptor, with a glutamine for arginine substitution at position 734 in the ligand-binding domain (Yarbrough et al., 1990).”
Background
Androgen Receptor and Mechanism of Androgen Action
Jänne, O. A., Palvimo, J. J., Kallio, P. J., & Mehto, M. (1993) · Annals of Medicine · doi:10.3109/07853899309147863 · Cited by 105 · see citing works
Systematic Structure Modifications of Multitarget Prostate Cancer Drug Candidate Galeterone To Produce Novel Androgen Receptor Down-Regulating Agents as an Approach to Treatment of Advanced Prostate Cancer
Purushottamachar, P., Godbole, A. M., Gediya, L. K., Martin, M. S., Vasaitis, T. S., Kwegyir‐Afful, A. K., Ramalingam, S., Ateş‐Alagöz, Z., & Njar, V. C. O. (2013) · Journal of Medicinal Chemistry · doi:10.1021/jm400048v · Cited by 104 · see citing works
The androgen receptor A mediator of diverse responses
Chang, C. (1996) · Frontiers in bioscience · doi:10.2741/a116 · Cited by 104 · see citing works
“Perhaps the strongest evidence for the presence of one androgen receptor is derived from the observation that genotypic XY mice and rats with testicular feminization syndrome (Tfm) do not have a fully functional AR (87-90) and even though they express both T and DHT they develop into phenotypic females.”
The spinal nucleus of the bulbocavernosus: Firsts in androgen-dependent neural sex differences
Sengelaub, D. R., & Forger, N. G. (2007) · Hormones and Behavior · doi:10.1016/j.yhbeh.2007.11.008 · Cited by 102 · see citing works
“These researchers capitalized on the fact that the AR gene resides on the X chromosome (Yarbrough et al., 1990).”
Background
Bone and mineral metabolism in the androgen-resistant (testicular feminized) male rat
Vanderschueren, D., Herck, E. V., Suiker, A. M. H., Visser, W. J., Schot, L. P. C., Chung, K., Lucas, R. S., Einhorn, T. A., & Bouillon, R. (1993) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.5650080705 · Cited by 100 · see citing works
A Role for the Androgen Metabolite, 5α‐Androstane‐3β,17β‐Diol, in Modulating Oestrogen Receptor β‐Mediated Regulation of Hormonal Stress Reactivity
Handa, R. J., Weiser, M. J., & Zuloaga, D. G. (2009) · Journal of Neuroendocrinology · doi:10.1111/j.1365-2826.2009.01840.x · Cited by 95 · see citing works
Rat models of human diseases and related phenotypes: a systematic inventory of the causative genes
Szpirer, C. (2020) · Journal of Biomedical Science · doi:10.1186/s12929-020-00673-8 · Cited by 93 · see citing works
Of mice and rats: Key species variations in the sexual differentiation of brain and behavior
Bonthuis, P. J., Cox, K. H., Searcy, B. T., Kumar, P., Tobet, S. A., & Rissman, E. F. (2010) · Frontiers in Neuroendocrinology · doi:10.1016/j.yfrne.2010.05.001 · Cited by 90 · see citing works
“In rats, the mutation in the AR gene is a single amino acid substitution in the steroidbinding domain resulting in an AR protein that has a reduced ability to bind ligand [241].”
Androgen resistance caused by mutations in the androgen receptor gene
McPhaul, M. J., Marcelli, M., Tilley, W. D., Griffin, J. E., & Wilson, J. D. (1991) · The FASEB Journal · doi:10.1096/fasebj.5.14.1752359 · Cited by 89 · see citing works
Role of the androgen receptor in the central nervous system
Mhaouty‐Kodja, S. (2017) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2017.08.001 · Cited by 84 · see citing works
“The rat mutation decreases AR function by 85–90% (Yarbrough et al., 1990).”
Background
Agonist and antagonist activities of hydroxyflutamide and casodex relate to androgen receptor stabilization
Kemppainen, J., & Wilson, E. M. (1996) · Urology · doi:10.1016/s0090-4295(96)00117-3 · Cited by 86 · see citing works
Self-citation
Regulation of Sertoli-Germ Cell Adhesion and Sperm Release by FSH and Nonclassical Testosterone Signaling
Shupe, J. A., Cheng, J., Puri, P., Kostereva, N., & Walker, W. H. (2010) · Molecular Endocrinology · doi:10.1210/me.2010-0030 · Cited by 86 · see citing works
Complete androgen insensitivity due to deletion of exon C of the androgen receptor gene highlights the functional importance of the second zinc finger of the androgen receptor in vivo
Quigley, C. A., Evans, B. A., Simental, J. A., Marschke, K. B., Sar, M., Lubahn, D. B., Davies, P. A., Hughes, I. A., Wilson, E. M., & French, F. S. (1992) · Molecular Endocrinology · doi:10.1210/mend.6.7.1508223 · Cited by 86 · see citing works
Self-citation
Effects of Androgens and Estradiol on Spine Synapse Formation in the Prefrontal Cortex of Normal and Testicular Feminization Mutant Male Rats
Hajszán, T., MacLusky, N. J., Johansen, J. A., Jordan, C. L., & Léránth, C. (2007) · Endocrinology · doi:10.1210/en.2006-1626 · Cited by 84 · see citing works
“The observed residual synaptogenic activity in the mPFC of gonadally intact and DHT-treated castrated Tfm males may be explained by the fact that in Tfm rats, the androgen receptor remains partially functional (13).”
Background
The role of estrogen in pubertal skeletal physiology: epiphyseal maturation and mineralization of the skeleton
Frank, G. (1995) · Acta Paediatrica · doi:10.1111/j.1651-2227.1995.tb13714.x · Cited by 81 · see citing works
Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome
Bellis, A. D., Quigley, C. A., Marschke, K. B., Awady, M. K. E., Lane, M. V., Smith, E. P., Sar, M., Wilson, E. M., & French, F. S. (1994) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.78.3.8126121 · Cited by 80 · see citing works
Self-citation
Distribution of androgen receptor immunoreactivity in the spinal cord of wild‐type, androgen‐insensitive and gonadectomized male rats
Freeman, L. M., Padgett, B., Prins, G. S., & Breedlove, S. M. (1995) · Journal of Neurobiology · doi:10.1002/neu.480270106 · Cited by 78 · see citing works
Neuroprotective actions of androgens on motoneurons
Fargo, K. N., Foecking, E. M., Jones, K. J., & Sengelaub, D. R. (2009) · Frontiers in Neuroendocrinology · doi:10.1016/j.yfrne.2009.04.005 · Cited by 76 · see citing works
“These researchers capitalized on the fact that the androgen receptor gene resides on the X-chromosome [160].”
Synthesis and biological evaluations of putative metabolically stable analogs of VN/124-1 (TOK-001): Head to head anti-tumor efficacy evaluation of VN/124-1 (TOK-001) and abiraterone in LAPC-4 human prostate cancer xenograft model
Bruno, R. D., Vasaitis, T. S., Gediya, L. K., Purushottamachar, P., Godbole, A. M., Ateş‐Alagöz, Z., Brodie, A. M. H., & Njar, V. C. O. (2011) · Steroids · doi:10.1016/j.steroids.2011.06.002 · Cited by 76 · see citing works
“[25, 26].”
Antagonistic Effects of Testosterone and the Endocrine Disruptor Mono-(2-Ethylhexyl) Phthalate on INSL3 Transcription in Leydig Cells
Laguë, É., & Tremblay, J. (2008) · Endocrinology · doi:10.1210/en.2008-0310 · Cited by 76 · see citing works
Pregnenolone stimulates LNCaP prostate cancer cell growth via the mutated androgen receptor
Grigoryev, D. N., Long, B. J., Njar, V. C. O., & Brodie, A. (2000) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/s0960-0760(00)00131-x · Cited by 72 · see citing works
Expression of Recombinant Androgen Receptor in Cultured Mammalian Cells
Quarmby, V. E., Kemppainen, J., Sar, M., Lubahn, D. B., French, F. S., & Wilson, E. M. (1990) · Molecular Endocrinology · doi:10.1210/mend-4-9-1399 · Cited by 70 · see citing works
Self-citation
Myocyte Androgen Receptors Increase Metabolic Rate and Improve Body Composition by Reducing Fat Mass
Fernando, S. M., Rao, P., Niel, L., Chatterjee, D., Stagljar, M., & Monks, D. A. (2010) · Endocrinology · doi:10.1210/en.2010-0018 · Cited by 69 · see citing works
“These human skeletal actin promoter-driving expression of AR (HSA-AR) Tg rats were also crossed with rats carrying the testicular feminization mutation (Tfm), a loss of function AR mutation (14).”
Background
Antiandrogenic effects of novel androgen synthesis inhibitors on hormone-dependent prostate cancer.
Long, B. J., Grigoryev, D. N., Nnane, I. P., Liu, Y., Ling, Y. Z., & Brodie, A. M. (2000) · PubMed · Cited by 69 · see citing works
Neuronal Size in the Spinal Nucleus of the Bulbocavernosus: Direct Modulation by Androgen in Rats with Mosaic Androgen Insensitivity
Watson, N. V., Freeman, L. M., & Breedlove, S. M. (2001) · Journal of Neuroscience · doi:10.1523/jneurosci.21-03-01062.2001 · Cited by 69 · see citing works
“Mosaic animals were generated by capitalizing on the residence of the AR gene on the X chromosome (Yarbrough et al., 1990).”
Background
Molecular Basis of Androgen Insensitivity
French, F. S., Lubahn, D. B., Brown, T. R., Simental, J. A., Quigley, C. A., Yarbrough, W. G., Tan, J.-A., Sar, M., JOSEPH, D. R., EVANS, B. A. J., et al. (1990) · Elsevier eBooks · doi:10.1016/b978-0-12-571146-3.50005-5 · Cited by 68 · see citing works
Self-citation
Ontogeny of steroid accumulation in spinal lumbar motoneurons of the rat: Implications for androgen's site of action during synapse elimination
Jordan, C. L., Breedlove, S. M., & Arnold, A. P. (1991) · The Journal of Comparative Neurology · doi:10.1002/cne.903130304 · Cited by 66 · see citing works
Male rats with the testicular feminization mutation of the androgen receptor display elevated anxiety-related behavior and corticosterone response to mild stress
Zuloaga, D., Poort, J. E., Jordan, C. L., & Breedlove, S. (2011) · Hormones and Behavior · doi:10.1016/j.yhbeh.2011.07.008 · Cited by 56 · see citing works
“While the Tfm mutation in rats does not completely render the AR nonfunctional, as it does in the mouse, the decreases in function by 85–90% (Yarbrough et al., 1990) are sufficient to produce an entirely feminine external phenotype (Allison, 1965).”
The putative androgen receptor-A form results from in vitro proteolysis
Gregory, C., He, B., & Wilson, E. (2001) · Journal of Molecular Endocrinology · doi:10.1677/jme.0.0270309 · Cited by 63 · see citing works
“COS cells (1·2 106 cells/10 cm dish) were transfected with wild-type and mutant pCMVhAR expression vector DNA (10 µg) using DEAE dextran (Yarbrough et al. 1990).”
Self-citation
The hypertensive Y chromosome elevates blood pressure in F11 normotensive rats.
Ely, D. L., Daneshvar, H., Turner, M. E., Johnson, M. L., & Salisbury, R. (1993) · Hypertension · doi:10.1161/01.hyp.21.6.1071 · Cited by 63 · see citing works
Androgen receptors are required for full masculinization of the ventromedial hypothalamus (VMH) in rats
Dugger, B. N., Morris, J. A., Jordan, C. L., & Breedlove, S. M. (2006) · Hormones and Behavior · doi:10.1016/j.yhbeh.2006.10.001 · Cited by 62 · see citing works
“We studied male XY rats that have the tfm (testicular feminization mutation) allele (TFM males), a mutant allele of the AR that renders males largely unresponsive to androgens (Yarbough et al., 1990).”
Partial demasculinization of several brain regions in adult male (XY) rats with a dysfunctional androgen receptor gene
Morris, J. A., Jordan, C. L., Dugger, B. N., & Breedlove, S. M. (2005) · The Journal of Comparative Neurology · doi:10.1002/cne.20558 · Cited by 65 · see citing works
“…to androgens. tfm male rats have above normal levels of circulating testosterone (Roselli et al., 1987), but because they have a mutation in the AR gene involving a single nucleotide substitution (Yarbrough et al., 1990), only 10–15% of the AR protein binds androgen (Naess et al., 1976).”
Influential
Androgen Effects on Hippocampal CA1 Spine Synapse Numbers Are Retained in Tfm Male Rats with Defective Androgen Receptors
MacLusky, N. J., Hajszán, T., Johansen, J. A., Jordan, C. L., & Leranth, C. (2006) · Endocrinology · doi:10.1210/en.2005-0673 · Cited by 60 · see citing works
“In the Tfm rat, a single base mutation results in transcription of a defective androgen receptor, with a glutamine for arginine substitution at position 734 in the ligand binding domain of the receptor (30).”
Background
Preserved Male Fertility Despite Decreased Androgen Sensitivity Caused by a Mutation in the Ligand-Binding Domain of the Androgen Receptor Gene1
Giwercman, A., Kledal, T. N., Schwartz, M., Giwercman, Y. L., Leffers, H. C. B., Zazzi, H., Wedell, A., & Skakkebæk, N. E. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.6.6626 · Cited by 60 · see citing works
The role of the androgen receptor in CNS masculinization
Garcı́a-Falgueras, A., Pinos, H., Collado, P., Pásaro, E., Fernández, R., Jordan, C. L., Segovia, S., & Guillamón, A. (2005) · Brain Research · doi:10.1016/j.brainres.2004.11.060 · Cited by 58 · see citing works
“2) due to the mutation GY A in position 2201 of the Ar gene in Tfm rats [105] that leads to the elimination of a restriction site for the enzyme.”
Background
A complex response element in intron 1 of the androgen-regulated 20-kDa protein gene displays cell type-dependent androgen receptor specificity.
Ho, K. C., Marschke, K. B., Tan, J., Power, S. G., Wilson, E. M., & French, F. S. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)74241-0 · Cited by 58 · see citing works
Self-citation
Spatial memory performance in androgen insensitive male rats
JONES, B., & WATSON, N. (2005) · Physiology & Behavior · doi:10.1016/j.physbeh.2005.03.023 · Cited by 57 · see citing works
Interaction of the 90-kDa heat shock protein with native and in vitro translated androgen receptor and receptor fragments
Marivoet, S., Dijck, P. V., Verhoeven, G., & Heyns, W. (1992) · Molecular and Cellular Endocrinology · doi:10.1016/0303-7207(92)90021-w · Cited by 56 · see citing works
Abolition of Hypertension-Induced End-Organ Damage by Androgen Receptor Blockade in Transgenic Rats Harboring the Mouse Ren-2 Gene
Baltatu, O. C., Cayla, C., Iliescu, R., Andreev, D., Jordan, C. L., & Bäder, M. (2002) · Journal of the American Society of Nephrology · doi:10.1097/01.asn.0000033327.65390.ca · Cited by 55 · see citing works
Androgen receptor and the testes influence hypertension in a hybrid rat model.
Ely, D. L., Salisbury, R., Hadi, D., Turner, M., & Johnson, M. L. (1991) · Hypertension · doi:10.1161/01.hyp.17.6.1104 · Cited by 52 · see citing works
Genetic Influences on Sexual Behavior Differentiation
Olsen, K. L. (1992) · Handbooks of Behavioral Neurobiology · doi:10.1007/978-1-4899-2453-7_1 · Cited by 52 · see citing works
Self-citation
Androgen Regulates the Sexually Dimorphic Gastrin-Releasing Peptide System in the Lumbar Spinal Cord that Mediates Male Sexual Function
Sakamoto, H., Takanami, K., Zuloaga, D. G., Matsuda, K.-I., Jordan, C. L., Breedlove, S. M., & Kawata, M. (2009) · Endocrinology · doi:10.1210/en.2008-1791 · Cited by 48 · see citing works
Timing and duration of dihydrotestosterone treatment affect the development of motoneuron number and morphology in a sexually dimorphic rat spinal nucleus
Goldstein, L. A., & Sengelaub, D. R. (1992) · The Journal of Comparative Neurology · doi:10.1002/cne.903260113 · Cited by 46 · see citing works
Repression of cAMP-Induced Expression of The Mouse P450 17α-Hydroxylase/C17-20 Lyase Gene (Cyp17) by Androgens
Burgos-Trinidad, M., Youngblood, G. L., Maroto, M. R., Scheller, A., Robins, D. M., & Payne, A. H. (1997) · Molecular Endocrinology · doi:10.1210/mend.11.1.9871 · Cited by 45 · see citing works
“Androgen-specific binding of hAR and hAR-DBDm was determined in MA-10 cells transiently expressing the recombinant AR using a whole cell-binding assay previously described, with minor modifications (45).”
Method
Androgen resistance and deficiency have different effects on the growing skeleton of the rat
Vanderschueren, D., Van Herck, E., Geusens, P., Suiker, A., Visser, W., Chung, K., & Bouillon, R. (1994) · Calcified Tissue International · doi:10.1007/bf00425875 · Cited by 45 · see citing works
“This single point mutation results in deficient binding of androgens [25].”
Background
Regulation of motoneuron death in the spinal nucleus of the bulbocavernsus
Forger, N. G., Hodges, L. L., Roberts, S. L., & Breedlove, S. M. (1992) · Journal of Neurobiology · doi:10.1002/neu.480230910 · Cited by 45 · see citing works
Cellular phenotype of androgen receptor‐immunoreactive nuclei in the developing and adult rat brain
Lorenz, B., García‐Segura, L. M., & DonCarlos, L. L. (2005) · The Journal of Comparative Neurology · doi:10.1002/cne.20763 · Cited by 44 · see citing works
Synthesis and evaluation of novel 17-indazole androstene derivatives designed as CYP17 inhibitors
Moreira, V. M., Vasaitis, T. S., Njar, V. C. O., & Salvador, J. A. R. (2007) · Steroids · doi:10.1016/j.steroids.2007.08.004 · Cited by 44 · see citing works
Evidence that the androgen receptor mediates sexual differentiation of mouse renal cytochrome P450 expression
Henderson, C. J., & Wolf, C. R. (1991) · Biochemical Journal · doi:10.1042/bj2780499 · Cited by 44 · see citing works
Mutant and Wild-Type Androgen Receptors Exhibit Cross-Talk on Androgen-, Glucocorticoid-, and Progesterone-Mediated Transcription
Yen, P. M., Liu, Y., Palvimo, J. J., Trifiro, M. A., Whang, J., Pinsky, L., Jänne, O. A., & Chin, W. W. (1997) · Molecular Endocrinology · doi:10.1210/mend.11.2.9886 · Cited by 41 · see citing works
Neuroendocrine underpinning of social recognition in males and females
Aspesi, D., & Choleris, E. (2022) · Journal of Neuroendocrinology · doi:10.1111/jne.13070 · Cited by 41 · see citing works
Androgen Receptor Expression in the Preputial Gland and Its Sebocytes
Miyake, K., Ciletti, N. A., Liao, S., & Rosenfield, R. L. (1994) · Journal of Investigative Dermatology · doi:10.1111/1523-1747.ep12398601 · Cited by 41 · see citing works
Androgen receptor and Kennedy disease/spinal bulbar muscular atrophy
Monks, D. A., Rao, P., Mo, K., Johansen, J. A., Lewis, G. A., & Kemp, M. Q. (2008) · Hormones and Behavior · doi:10.1016/j.yhbeh.2007.12.009 · Cited by 40 · see citing works
“N IH -PA Author M anuscript N IH -PA Author M anuscript et al., 1993; Sengelaub et al., 1989; Yarbrough et al., 1990).”
Background
Lack of Feminization of the Cremaster Nucleus in Cryptorchid Androgen Insensitive Rats
Barthold, J. S., Mahler, H. R., & Newton, B. W. (1994) · The Journal of Urology · doi:10.1016/s0022-5347(17)31658-0 · Cited by 40 · see citing works
Membrane androgen receptors may mediate androgen reinforcement
Sato, S. M., Johansen, J. A., Jordan, C. L., & Wood, R. I. (2010) · Psychoneuroendocrinology · doi:10.1016/j.psyneuen.2010.01.007 · Cited by 39 · see citing works
“Tfm is a single base substitution which results in defective ARs with limited ligand binding (Yarbrough et al., 1990).”
Influential

A frame-shift mutation in the androgen receptor gene causes complete androgen insensitivity in the testicularfeminized mouse
He, W. W., Kumar, M. V., & Tindall, D. J. (1991) · Nucleic Acids Research · doi:10.1093/nar/19.9.2373 · Cited by 161 · see citing works
A single-base substitution in exon 6 of the androgen receptor gene causing complete androgen insensitivity: the mutated receptor fails to transactivate but binds to DNA in vitro
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A novel substitution (Leu707Arg) in exon 4 of the androgen receptor gene causes complete androgen resistance
Lumbroso, S., Lobaccaro, J. M., Georget, V., Leger, J., Poujol, N., Térouanne, B., Evain‐Brion, D., Czernichow, P., & Sultan, C. (1996) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.81.5.8626869 · Cited by 32 · see citing works
Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes.
Prior, L., Bordet, S., Trifiro, M. A., Mhatre, A. N., Kaufman, M., Pinsky, L., Wrogeman, K., Belsham, D. D., Pereira, F. A., & Greenberg, C. R. (1992) · Europe PMC (PubMed Central) · Cited by 59 · see citing works
Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.
Lubahn, D. B., Brown, T. R., Simental, J. A., Higgs, H. N., Migeon, C. J., Wilson, E. M., & French, F. S. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.23.9534 · Cited by 447 · see citing works
Self-citation

Authors: Yarbrough, W. G., Quarmby, V. E., Simental, J. A., Joseph, D. R., Sar, M., Lubahn, D. B., Olsen, K. L., French, F. S., & Wilson, E. M.
Affiliations: University of North Carolina at Chapel Hill (US)
ORCID: Yarbrough, W G
Quarmby, V E
Joseph, D R
Venue: Journal of Biological Chemistry
Publisher: Elsevier BV
Published: 1990-05
Volume: 265
Issue: 15
Pages: 8893-8900
ISSN: 0021-9258 (ISSN-L)
DOI: 10.1016/s0021-9258(19)38972-0
OpenAlex: W1565230790
Cited by: 199
References: 59
Citations by year: 2025: 1 · 2024: 2 · 2023: 2 · 2022: 2 · 2021: 2 · 2020: 2 · 2019: 1 · 2018: 2 · 2017: 4 · 2015: 8 · 2014: 4 · 2013: 4 · 2012: 4
FWCI: 6.13
Type: journal article
Language: en
Open access: hybrid
doi.org
Licence: cc-by
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
creativecommons.org/licenses/by/4.0/ (vor, 11130 d)
Locations: Journal of Biological Chemistry (publishedVersion, cc-by)
PubMed (publishedVersion)
Carolina Digital Repository (University of North Carolina at Chapel Hill) (submittedVersion, cc-by)
UNC Libraries
Funders: Andrew W. Mellon Foundation
National Institutes of Health (5p30hd018968-12)
National Institute of Child Health and Human Development
Eunice Kennedy Shriver National Institute of Child Health and Human Development (P-30 HD18968, HD-16910, HD04466)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Estrogen and related hormone effects
Keywords: androgen receptor, androgen insensitivity syndrome, single-base mutations, steroid-binding domain, androgen binding, transcriptional activation, male reproductive development, X-linked disorders, rat model
MeSH terms: Amino Acid Sequence, Androgens, Animals, Base Sequence, Cell Line, DNA, Feminization, Gene Amplification, Humans, Male, Molecular Sequence Data, Mutation, Rats, Mutant Strains, Receptors, Androgen, RNA, Messenger, Sequence Homology, Nucleic Acid, Transfection, X Chromosome, Restriction Mapping, Rats

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A single base mutation in the androgen receptor gene causes androgen insensitivity in the testicular feminized rat.

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