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  • Title: Ala 586 Asp mutation in androgen receptor disrupts transactivation function without affecting androgen binding.
    Author: Rajender S, Gupta NJ, Chakrabarty B, Singh L, Thangaraj K.
    Journal: Fertil Steril; 2009 Mar; 91(3):933.e23-8. PubMed ID: 19062009.
    Abstract:
    OBJECTIVE: To understand the pathogenesis of the androgen insensitivity syndrome. DESIGN: Familial case study. SETTING: Medical and Evolutionary Genetics Laboratory, Centre for Cellular and Molecular Biology, Hyderabad, India. PATIENT(S): Two affected sisters and other unaffected family members. INTERVENTION(S): The hormone levels were measured by RIA. Histology was done by standard protocols. DNA isolation and direct DNA sequencing was undertaken for mutation identification. Site-directed mutagenesis was used for incorporation of mutation in the androgen receptor clone. Functional assays were done using COS-1 cell cultures. MAIN OUTCOME MEASURE(S): Phenotype, hormone levels, DNA mutations, ligand binding, transactivation function of androgen-androgen receptor complex. RESULT(S): The patients exhibited a female phenotype despite the 46,XY chromosome complement. Both of the affected individuals had higher levels of T and LH. C1760A (coding DNA sequence reference) substitution (Ala 586 Asp) in the AR gene was observed in all of the affected individuals. The mutation did not result in a loss of ligand binding but instead in almost complete loss of transactivation function. CONCLUSION(S): The Ala 586 Asp mutation resulted in a complete loss of transactivation function of the androgen-androgen receptor complex but did not affect ligand binding. In vitro assays confirmed the pathogenic nature of this mutation.
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