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

The DOI matches its Crossref record; 59 of the 59 references it cites were found in a registry or an index.

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

Open access

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·1990·Journal of Biological Chemistry

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

Open this paper in CoChat — free account

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…

Integrity signals

Registry

Crossref · 10.1016/s0021-9258(19)38972-0

Cites

59 of 59 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

We couldn’t retrieve this paper’s full text, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4
LAEMMLI, U. K. (1970) · Nature · doi:10.1038/227680a0 · Cited by 249,961
DNA sequencing with chain-terminating inhibitors
Sanger, F., Nicklen, S., & Coulson, A. R. (1977) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.74.12.5463 · Cited by 68,572
Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications.
Towbin, H., Staehelin, T., & Gordon, J. (1979) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.76.9.4350 · Cited by 53,218
Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease
Chirgwin, J. M., Przybyla, A., MacDonald, R. J., & Rutter, W. J. (1979) · Biochemistry · doi:10.1021/bi00591a005 · Cited by 21,460
Hybridization of denatured RNA and small DNA fragments transferred to nitrocellulose.
Thomas, P. S. (1980) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.77.9.5201 · Cited by 7,937
Recombinant Genomes Which Express Chloramphenicol Acetyltransferase in Mammalian Cells
Gorman, C., Moffat, L. F., & Howard, B. H. (1982) · Molecular and Cellular Biology · doi:10.1128/mcb.2.9.1044 · Cited by 7,674
The Steroid and Thyroid Hormone Receptor Superfamily
Evans, R. M. (1988) · Science · doi:10.1126/science.3283939 · Cited by 7,394
Rapid and efficient site-specific mutagenesis without phenotypic selection.
Kunkel, T. A. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.2.488 · Cited by 7,309
Purification of Biologically Active Globin Messenger RNA by Chromatography on Oligothymidylic acid-Cellulose
Aviv, H., & Leder, P. (1972) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.69.6.1408 · Cited by 6,636
A simple and very efficient method for generating cDNA libraries
Gubler, U., & Hoffman, B. J. (1983) · Gene · doi:10.1016/0378-1119(83)90230-5 · Cited by 4,461

Show all 59 references

Research works printed but not linked: 7

Stanley, 1973, Recent Prog. Horm. Res., 29, 43
Bardin, 1980, Ann. Clin. Res., 12, 236
Gorman, 1982, Mol. Cell. Biol., 2, 1044
Bardin, 1973, Recent Prog. Horm. Res., 29, 65
Smith, 1975, Curr. Top. Mol. Endocrinol., 2, 257
Darbre, 1986, Mol. Cell. Biol., 6, 2847
Sar, 1985, 3, 43

Sorted by citations

Androgen Receptor Defects: Historical, Clinical, and Molecular Perspectives*
Quigley, C. A., Bellis, A. D., Marschke, K. B., Awady, M. K. E., Wilson, E. M., & French, F. S. (1995) · Endocrine Reviews · doi:10.1210/edrv-16-3-271 · Cited by 1,459
Self-citation
Research Needs for the Risk Assessment of Health and Environmental Effects of Endocrine Disruptors: A Report of the U.S. EPA-Sponsored Workshop
Kavlock, R. J., Daston, G. P., DeRosa, C., Fenner-Crisp, P. A., Gray, L. E., Kaattari, S. L., Lucier, G. W., Luster, M. I., Mac, M. J., Maczka, C., et al. (1996) · Environmental Health Perspectives · doi:10.1289/ehp.96104s4715 · Cited by 1,235
A canonical structure for the ligand-binding domain of nuclear receptors
Wurtz, J., Bourguet, W., Renaud, J., Vivat, V., Chambon, P., Moras, D., & Gronemeyer, H. (1996) · Nature Structural Biology · doi:10.1038/nsb0196-87 · Cited by 986
Transcriptional activation and nuclear targeting signals of the human androgen receptor.
Simental, J. A., Sar, M., Lane, M. V., French, F. S., & Wilson, E. M. (1991) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)52466-2 · Cited by 631
Self-citation
Androgen insensitivity syndrome
Hughes, I. A., Davies, J. D., Bunch, T., Pasterski, V., Mastroyannopoulou, K., & MacDougall, J. (2012) · The Lancet · doi:10.1016/s0140-6736(12)60071-3 · Cited by 579
Antiandrogenic Effects of Bisphenol A and Nonylphenol on the Function of Androgen Receptor
LEE, H. J. (2003) · Toxicological Sciences · doi:10.1093/toxsci/kfg150 · Cited by 460
“Whole-cell binding assays were performed as described previously (Yarbrough et al., 1990).”
Method
Androgen receptor phosphorylation, turnover, nuclear transport, and transcriptional activation. Specificity for steroids and antihormones.
Kemppainen, J., Lane, M. V., Sar, M., & Wilson, E. M. (1992) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)48380-9 · Cited by 430
Self-citation
Androgen Receptor Antagonist versus Agonist Activities of the Fungicide Vinclozolin Relative to Hydroxyflutamide
Wong, C.-I., KELCE, W. R., Sar, M., & Wilson, E. M. (1995) · Journal of Biological Chemistry · doi:10.1074/jbc.270.34.19998 · Cited by 337
Self-citation
Roles of steroid hormones and their receptors in structural organization in the nervous system
Kawata, M. (1995) · Neuroscience Research · doi:10.1016/0168-0102(96)81278-8 · Cited by 338
A ligand-dependent bipartite nuclear targeting signal in the human androgen receptor. Requirement for the DNA-binding domain and modulation by NH2-terminal and carboxyl-terminal sequences.
Zhou, Z. X., Sar, M., Simental, J. A., Lane, M. V., & Wilson, E. M. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)36806-0 · Cited by 312
Self-citation
Reduced androgen receptor gene expression with first exon CAG repeat expansion.
Choong, C. S. Y., Kemppainen, J. A., Zhou, Z., & Wilson, E. M. (1996) · Molecular Endocrinology · doi:10.1210/mend.10.12.8961263 · Cited by 327
Self-citation
Sexual dimorphism in the vertebrate nervous system
Breedlove, S. M. (1992) · Journal of Neuroscience · doi:10.1523/jneurosci.12-11-04133.1992 · Cited by 304
“a single base pair substitution in the structural gene for the androgen receptor (Yarbrough et al., 1990), are insensitive to androgen and develop a female SNB system (Breedlove and”
BackgroundInfluential
Evidence for an anti-parallel orientation of the ligand-activated human androgen receptor dimer
Langley, E., Zhou, Z.-X., & Wilson, E. M. (1995) · Journal of Biological Chemistry · doi:10.1074/jbc.270.50.29983 · Cited by 280
Self-citation
Research Needs for the Risk Assessment of Health and Environmental Effects of Endocrine Disruptors: A Report of the U.S. EPA-Sponsored Workshop
Kavlock, R. J., Daston, G. P., DeRosa, C., Fenner-Crisp, P., Gray, L. E., Kaattari, S., Lucier, G. W., Luster, M. I., Mac, M. J., Maczka, C., et al. (1996) · Environmental Health Perspectives · doi:10.2307/3432708 · Cited by 279
Zinc fingers, zinc clusters, and zinc twists in DNA-binding protein domains.
Vallée, B. L., Coleman, J., & Auld, D. S. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.3.999 · Cited by 271
Intermolecular NH2-/carboxyl-terminal interactions in androgen receptor dimerization revealed by mutations that cause androgen insensitivity
Langley, E., Kemppainen, J. A., & Wilson, E. M. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.1.92 · Cited by 233
Self-citation
Biology and Diseases of Rats
Otto, G. M., Franklin, C. L., & Clifford, C. B. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-409527-4.00004-3 · Cited by 223
“In the testicular-feminized rat (tfm), the defect is a lack of androgen receptors due to a point mutation (Yarbrough et al., 1990), although defects in other genes could potentially result in similar syndromes.”
Background
Androgen Resistance — The Clinical and Molecular Spectrum
Flier, J. S., Underhill, L. H., & Griffin, J. E. (1992) · New England Journal of Medicine · doi:10.1056/nejm199202273260906 · Cited by 224
The role of androgen receptors in the masculinization of brain and behavior: What we've learned from the testicular feminization mutation
Zuloaga, D. G., Puts, D. A., Jordan, C. L., & Breedlove, S. M. (2008) · Hormones and Behavior · doi:10.1016/j.yhbeh.2008.01.013 · Cited by 236
“Due to differences in the nature of these mutations, Tfm rats have some residual sensitivity to androgens through ARs, although it is greatly reduced (Yarbrough et al., 1990), while Tfm mice have virtually no sensitivity to androgen through ARs, as in CAIS women (Drews, 1998).”
Background
Distinguishing Androgen Receptor Agonists and Antagonists: Distinct Mechanisms of Activation by Medroxyprogesterone Acetate and Dihydrotestosterone
Kemppainen, J., Langley, E., Wong, C.-I., Bobseine, K., KELCE, W. R., & Wilson, E. M. (1999) · Molecular Endocrinology · doi:10.1210/mend.13.3.0255 · Cited by 207
Self-citation
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 202
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 203
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
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
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
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
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
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
“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
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 148
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
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
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
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 141
“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
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
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
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
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
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 128
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
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
“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 112
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
“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 108
“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
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 105
The androgen receptor A mediator of diverse responses
Chang, C. (1996) · Frontiers in bioscience · doi:10.2741/a116 · Cited by 104
“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
“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
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 96
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 97
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
“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
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 90
“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
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
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
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
“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 79
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
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
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
“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
“[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
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
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
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
“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
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
“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
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
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
“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
“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
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
“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
“…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 59
“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
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 60
“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
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
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
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
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
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
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
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 47
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
“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
“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
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 47
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
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
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
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
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
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 41
“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
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
“Tfm is a single base substitution which results in defective ARs with limited ligand binding (Yarbrough et al., 1990).”
Influential

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: Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › 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 › Endocrinology › 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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

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

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks