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Mongan NP Jääskeläinen J Green K Schwabe JW Shimura N Dattani M Hughes IA 《The Journal of clinical endocrinology and metabolism》2002,87(3):1057-1061
The androgen insensitivity syndrome (AIS) is the most common cause of male undermasculinization and is typically caused by mutations in the AR gene. Affected individuals may exhibit either complete external feminization (complete AIS) or a partial phenotype (partial AIS). Here we describe monozygotic twins diagnosed with complete AIS who each possess two substitutions (C-->G at position 2930 and T-->C at position 2955, both in exon 7), leading to Phe(856)Leu and Ser(865)Pro mutations, respectively. Neither parent was found to be a carrier for these mutations, indicating that the double mutation arose de novo. Both mutations were recreated by site-directed mutagenesis and compared functionally with the wild-type receptor. The Phe(856)Leu mutation did not affect androgen binding when expressed in COS-1 cells, nor did this mutation decrease androgen-dependent trans-activation in transfected HeLa cells. However, the Ser(865)Pro mutation completely ablated androgen binding and trans-activation. In this study we demonstrate that the replacement of serine by proline at position 865 is sufficient in itself to cause complete AIS in these twins. Analyses of nuclear receptor structures suggest that this mutation is likely to perturb the conformation of helix 10/11, which plays a role in ligand binding, dimerization, and receptor activation. To our knowledge this is the first confirmed instance of AIS (complete or partial) due to an AR mutation occurring in twins. Furthermore, the phenotype was associated with two mutations that were both novel in nature. 相似文献
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Krone N Reisch N Idkowiak J Dhir V Ivison HE Hughes BA Rose IT O'Neil DM Vijzelaar R Smith MJ MacDonald F Cole TR Adolphs N Barton JS Blair EM Braddock SR Collins F Cragun DL Dattani MT Day R Dougan S Feist M Gottschalk ME Gregory JW Haim M Harrison R Olney AH Hauffa BP Hindmarsh PC Hopkin RJ Jira PE Kempers M Kerstens MN Khalifa MM Köhler B Maiter D Nielsen S O'Riordan SM Roth CL Shane KP Silink M Stikkelbroeck NM Sweeney E Szarras-Czapnik M Waterson JR Williamson L Hartmann MF Taylor NF 《The Journal of clinical endocrinology and metabolism》2012,97(2):E257-E267
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Indran Davagnanam MB BCh BAO BMedSci FRCR Graeme Holland Raj S. Dattani Alexander Tamm Shashivadan P. Hirani MSc PhD CPsychol Nicky Kolfschoten MD Lisa Strycharczuk Cathy Green John S. Thornton PhD Alex Wright MB FRCP Mark Edsell FRCA Neil D. Kitchen MD FRCS David J. Sharp PhD Timothy E. Ham PhD Andrew Murray DPhil Cameron J. Holloway FRACP D.Phil Kieran Clarke PhD Mike P.W. Grocott BSc MBBS MD FRCA FRCP FFICM Birmingham Medical Research Expeditionary Society Caudwell Xtreme Everest Research Group 《Annals of neurology》2013,73(3):381-389
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