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Frame-shift mutation in hormone binding domain of human androgen receptor gene causes complete androgen insensitivity. 1998

H W Chung, and S C Kim, and H L Kim
Department of Biochemistry, Medical College, Ewha Womans University, Seoul, Korea.

Mutation of the human androgen receptor gene impairs normal sexual differentiation and development in karyotypic males, resulting in a spectrum of external genital phenotypes ranging from complete female to nearly complete male. The androgen insensitivity syndrome (AIS) is an X-linked disorder in which genetic males fail to undergo normal fetal masculinization or pubertal virilization. PCR amplification of AR exons followed by SSCP analysis was performed with the genomic DNA of a patient having complete AIS. Mutation was observed at the exon E, where a single nucleotide deletion of T at the nucleotide 3286 was observed by cyclic sequencing. A single base deletion in Exon E in the hormone binding domain causes a frame-shift mutation, which leads to changes in the open reading frame, and causes the early termination of AR synthesis. The structural change of the hormone binding domain and AR might cause an insensitivity to the androgen thus leading to AIS.

UI MeSH Term Description Entries
D008297 Male Males
D011944 Receptors, Androgen Proteins, generally found in the CYTOPLASM, that specifically bind ANDROGENS and mediate their cellular actions. The complex of the androgen and receptor migrates to the CELL NUCLEUS where it induces transcription of specific segments of DNA. Androgen Receptors,5 alpha-Dihydrotestosterone Receptor,Androgen Receptor,Dihydrotestosterone Receptors,Receptor, Testosterone,Receptors, Androgens,Receptors, Dihydrotestosterone,Receptors, Stanolone,Stanolone Receptor,Testosterone Receptor,5 alpha Dihydrotestosterone Receptor,Androgens Receptors,Receptor, 5 alpha-Dihydrotestosterone,Receptor, Androgen,Receptor, Stanolone,Stanolone Receptors,alpha-Dihydrotestosterone Receptor, 5
D004247 DNA A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000728 Androgens Compounds that interact with ANDROGEN RECEPTORS in target tissues to bring about the effects similar to those of TESTOSTERONE. Depending on the target tissues, androgenic effects can be on SEX DIFFERENTIATION; male reproductive organs, SPERMATOGENESIS; secondary male SEX CHARACTERISTICS; LIBIDO; development of muscle mass, strength, and power. Androgen,Androgen Receptor Agonist,Androgen Effect,Androgen Effects,Androgen Receptor Agonists,Androgenic Agents,Androgenic Compounds,Agents, Androgenic,Agonist, Androgen Receptor,Agonists, Androgen Receptor,Compounds, Androgenic,Effect, Androgen,Effects, Androgen,Receptor Agonist, Androgen,Receptor Agonists, Androgen
D001665 Binding Sites The parts of a macromolecule that directly participate in its specific combination with another molecule. Combining Site,Binding Site,Combining Sites,Site, Binding,Site, Combining,Sites, Binding,Sites, Combining
D013734 Androgen-Insensitivity Syndrome A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY. Testicular Feminization,AR Deficiency,Androgen Insensitivity Syndrome,Androgen Insensitivity, Partial,Androgen Receptor Deficiency,Androgen Resistance Syndrome,Androgen-Insensitivity Syndrome, Complete,Androgen-Insensitivity Syndrome, Partial,DHTR Deficiency,Dihydrotestosterone Receptor Deficiency,Male Pseudohermaphroditism Due to Androgen Insensitivity,Reifenstein Syndrome,Reifenstein's Syndrome,Testicular Feminization Syndrome,AR Deficiencies,Androgen Insensitivities, Partial,Androgen Insensitivity Syndrome, Complete,Androgen Insensitivity Syndrome, Partial,Androgen Insensitivity Syndromes,Androgen Receptor Deficiencies,Androgen Resistance Syndromes,Androgen-Insensitivity Syndromes,Androgen-Insensitivity Syndromes, Complete,Androgen-Insensitivity Syndromes, Partial,Complete Androgen-Insensitivity Syndrome,Complete Androgen-Insensitivity Syndromes,DHTR Deficiencies,Deficiencies, AR,Deficiencies, Androgen Receptor,Deficiencies, DHTR,Deficiencies, Dihydrotestosterone Receptor,Deficiency, AR,Deficiency, Androgen Receptor,Deficiency, DHTR,Deficiency, Dihydrotestosterone Receptor,Dihydrotestosterone Receptor Deficiencies,Feminization Syndrome, Testicular,Feminization Syndromes, Testicular,Feminization, Testicular,Feminizations, Testicular,Insensitivities, Partial Androgen,Insensitivity Syndrome, Androgen,Insensitivity Syndromes, Androgen,Insensitivity, Partial Androgen,Partial Androgen Insensitivities,Partial Androgen Insensitivity,Partial Androgen-Insensitivity Syndrome,Partial Androgen-Insensitivity Syndromes,Receptor Deficiencies, Androgen,Receptor Deficiencies, Dihydrotestosterone,Receptor Deficiency, Androgen,Receptor Deficiency, Dihydrotestosterone,Reifensteins Syndrome,Resistance Syndrome, Androgen,Resistance Syndromes, Androgen,Testicular Feminization Syndromes,Testicular Feminizations
D016368 Frameshift Mutation A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously. Mutation, Frameshift,Frame Shift Mutation,Out-of-Frame Deletion,Out-of-Frame Insertion,Out-of-Frame Mutation,Deletion, Out-of-Frame,Deletions, Out-of-Frame,Frame Shift Mutations,Frameshift Mutations,Insertion, Out-of-Frame,Insertions, Out-of-Frame,Mutation, Frame Shift,Mutation, Out-of-Frame,Mutations, Frame Shift,Mutations, Frameshift,Mutations, Out-of-Frame,Out of Frame Deletion,Out of Frame Insertion,Out of Frame Mutation,Out-of-Frame Deletions,Out-of-Frame Insertions,Out-of-Frame Mutations

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