A unique point mutation in the androgen receptor gene in a family with complete androgen insensitivity syndrome
To further delineate the diversity of genetic alterations in the gene coding for the androgen receptor in individuals with the androgen insensitivity syndrome and to increase our understanding of the disease at the molecular level. This was a prospective study in which genomic deoxyribonucleic acid...
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| Published in | Fertility and sterility Vol. 58; no. 4; pp. 703 - 707 |
|---|---|
| Main Authors | , , |
| Format | Journal Article |
| Language | English |
| Published |
New York, NY
Elsevier Inc
01.10.1992
Elsevier Science |
| Subjects | |
| Online Access | Get full text |
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| Abstract | To further delineate the diversity of genetic alterations in the gene coding for the androgen receptor in individuals with the androgen insensitivity syndrome and to increase our understanding of the disease at the molecular level.
This was a prospective study in which genomic deoxyribonucleic acid (DNA) from individuals with androgen insensitivity were examined through the polymerase chain reaction and DNA sequencing analysis.
Eleven complete and four individuals with partial androgen insensitivity syndrome were examined.
Exons two through eight were grossly intact in all study subjects. Nucleotide sequence analysis revealed that three of three related family members with complete androgen insensitivity had the same guanine to adenine base substitution in exon five of the steroid-binding domain.
The subsequent alanine to threonine amino acid conversion may have resulted in a configurational change of the androgen receptor protein leading to complete androgen insensitivity. This precise alteration has not been previously identified in the human androgen receptor gene in patients with the androgen insensitivity syndrome. |
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| AbstractList | OBJECTIVETo further delineate the diversity of genetic alterations in the gene coding for the androgen receptor in individuals with the androgen insensitivity syndrome and to increase our understanding of the disease at the molecular level.DESIGNThis was a prospective study in which genomic deoxyribonucleic acid (DNA) from individuals with androgen insensitivity were examined through the polymerase chain reaction and DNA sequencing analysis.PATIENTSEleven complete and four individuals with partial androgen insensitivity syndrome were examined.RESULTSExons two through eight were grossly intact in all study subjects. Nucleotide sequence analysis revealed that three of three related family members with complete androgen insensitivity had the same guanine to adenine base substitution in exon five of the steroid-binding domain.CONCLUSIONThe subsequent alanine to threonine amino acid conversion may have resulted in a configurational change of the androgen receptor protein leading to complete androgen insensitivity. This precise alteration has not been previously identified in the human androgen receptor gene in patients with the androgen insensitivity syndrome. To further delineate the diversity of genetic alterations in the gene coding for the androgen receptor in individuals with the androgen insensitivity syndrome and to increase our understanding of the disease at the molecular level. This was a prospective study in which genomic deoxyribonucleic acid (DNA) from individuals with androgen insensitivity were examined through the polymerase chain reaction and DNA sequencing analysis. Eleven complete and four individuals with partial androgen insensitivity syndrome were examined. Exons two through eight were grossly intact in all study subjects. Nucleotide sequence analysis revealed that three of three related family members with complete androgen insensitivity had the same guanine to adenine base substitution in exon five of the steroid-binding domain. The subsequent alanine to threonine amino acid conversion may have resulted in a configurational change of the androgen receptor protein leading to complete androgen insensitivity. This precise alteration has not been previously identified in the human androgen receptor gene in patients with the androgen insensitivity syndrome. |
| Author | Sweet, Craig R. McDonough, Paul G. Behzadian, Mohammad A. |
| Author_xml | – sequence: 1 givenname: Craig R. surname: Sweet fullname: Sweet, Craig R. – sequence: 2 givenname: Mohammad A. surname: Behzadian fullname: Behzadian, Mohammad A. – sequence: 3 givenname: Paul G. surname: McDonough fullname: McDonough, Paul G. |
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| Cites_doi | 10.1172/JCI114599 10.1002/j.1460-2075.1989.tb03604.x 10.1073/pnas.85.21.8151 10.1126/science.3353727 10.1016/0022-4731(89)90098-8 10.1016/S0015-0282(16)54171-5 10.1073/pnas.87.20.7866 10.1073/pnas.78.10.6339 10.1073/pnas.86.23.9534 10.1210/mend-4-12-1759 10.1210/mend-2-12-1265 10.1126/science.3353726 10.1016/S0006-291X(88)81214-2 10.1677/jme.0.002R001 10.1016/0303-7207(89)90137-8 10.1097/00007611-198902000-00024 |
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| References | Brown, Gross, Lubahn, Joseph, Wilson, French (bb0010) 1989; 44 Shull, Taylor (bb0060) 1989; 82 Marcelli, Tilley, Wilson, Wilson, Griffin, McPhaul (bb0070) 1990; 85 Sambrook, Fritsch, Maniatis (bb0065) 1989 Sai, Seino, Chang, Trifiro, Pinsky, Mhatre (bb0075) 1990; 46 Lubahn, Joseph, Sar, Tan, Higgs, Larson (bb0090) 1988; 2 Kuiper, Faber, van Rooij, van der Korput, Ris-Stalpers, Klaassen (bb0035) 1989; 2 Lubahn, Joseph, Sullivan, Willard, French, Wilson (bb0030) 1988; 240 Brinkman, Faper, van Rooij, Kuiper, Ris, Klaassen (bb0040) 1989; 34 Brown, Lubahn, Wilson, Joseph, French, Migeon (bb0005) 1988; 85 Trapman, Klaassen, Kuiper, van der Korput, Faber, van Rooij (bb0025) 1988; 153 Tora, Mullick, Metzfer, Ponglikitmongkol, Park, Chambon (bb0085) 1989; 8 Ris-Stalpers, Kuiper, Faper, Schweikert, van Rooij, Zegers (bb0080) 1990; 87 Migeon, Brown, Axelman, Migeon (bb0015) 1981; 78 DiLauro, Behzadian, Tho, McDonough (bb0055) 1991; 55 Chang, Kokontis, Liao (bb0020) 1988; 240 Faber, Kuiper, van Rooij, van der Korput, Brinkmann, Trapman (bb0095) 1989; 61 Lubahn, Brown, Simental, Higgs, Migeon, Wilson (bb0045) 1989; 86 Brown, Lubahn, Wilson, French, Migeon, Corden (bb0050) 1990; 4 Ris-Stalpers (10.1016/S0015-0282(16)55315-1_bb0080) 1990; 87 Brown (10.1016/S0015-0282(16)55315-1_bb0005) 1988; 85 Lubahn (10.1016/S0015-0282(16)55315-1_bb0045) 1989; 86 DiLauro (10.1016/S0015-0282(16)55315-1_bb0055) 1991; 55 Kuiper (10.1016/S0015-0282(16)55315-1_bb0035) 1989; 2 Shull (10.1016/S0015-0282(16)55315-1_bb0060) 1989; 82 Trapman (10.1016/S0015-0282(16)55315-1_bb0025) 1988; 153 Marcelli (10.1016/S0015-0282(16)55315-1_bb0070) 1990; 85 Faber (10.1016/S0015-0282(16)55315-1_bb0095) 1989; 61 Brown (10.1016/S0015-0282(16)55315-1_bb0010) 1989; 44 Chang (10.1016/S0015-0282(16)55315-1_bb0020) 1988; 240 Brown (10.1016/S0015-0282(16)55315-1_bb0050) 1990; 4 Sambrook (10.1016/S0015-0282(16)55315-1_bb0065) 1989 Sai (10.1016/S0015-0282(16)55315-1_bb0075) 1990; 46 Brinkman (10.1016/S0015-0282(16)55315-1_bb0040) 1989; 34 Tora (10.1016/S0015-0282(16)55315-1_bb0085) 1989; 8 Lubahn (10.1016/S0015-0282(16)55315-1_bb0030) 1988; 240 Migeon (10.1016/S0015-0282(16)55315-1_bb0015) 1981; 78 Lubahn (10.1016/S0015-0282(16)55315-1_bb0090) 1988; 2 |
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organization of the human androgen receptor gene publication-title: J Mol Endocrinol doi: 10.1677/jme.0.002R001 contributor: fullname: Kuiper – volume: 61 start-page: 257 year: 1989 ident: 10.1016/S0015-0282(16)55315-1_bb0095 article-title: The N-terminal domain of the human androgen receptor is encoded by one large exon publication-title: Mol Cell Endocrinol doi: 10.1016/0303-7207(89)90137-8 contributor: fullname: Faber – volume: 82 start-page: 251 year: 1989 ident: 10.1016/S0015-0282(16)55315-1_bb0060 article-title: Testicular feminization syndrome. A case study of four generations publication-title: South Med J doi: 10.1097/00007611-198902000-00024 contributor: fullname: Shull – year: 1989 ident: 10.1016/S0015-0282(16)55315-1_bb0065 contributor: fullname: Sambrook |
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| SubjectTerms | Amino Acid Sequence Androgen insensitivity syndrome Androgens - physiology Base Sequence Biological and medical sciences Disorders of Sex Development - genetics Disorders of Sex Development - physiopathology Exons - genetics Gynecology. Andrology. Obstetrics Humans Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance Medical sciences Molecular Sequence Data Pedigree Point Mutation Polymerase Chain Reaction Receptors, Androgen - genetics Syndrome |
| Title | A unique point mutation in the androgen receptor gene in a family with complete androgen insensitivity syndrome |
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