SEQUENCE OF THE INTRON EXON JUNCTIONS OF THE CODING REGION OF THE HUMAN ANDROGEN RECEPTOR GENE AND IDENTIFICATION OF A POINT MUTATION IN A FAMILY WITH COMPLETE ANDROGEN INSENSITIVITY

被引:415
作者
LUBAHN, DB
BROWN, TR
SIMENTAL, JA
HIGGS, HN
MIGEON, CJ
WILSON, EM
FRENCH, FS
机构
[1] UNIV N CAROLINA,REPROD BIOL LABS,CHAPEL HILL,NC 27599
[2] UNIV N CAROLINA,DEPT PEDIAT,CHAPEL HILL,NC 27599
[3] UNIV N CAROLINA,DEPT BIOCHEM,CHAPEL HILL,NC 27599
[4] UNIV N CAROLINA,DEPT PATHOL,CHAPEL HILL,NC 27599
[5] JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,DIV PEDIAT ENDOCRINOL,BALTIMORE,MD 21205
关键词
D O I
10.1073/pnas.86.23.9534
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
引用
收藏
页码:9534 / 9538
页数:5
相关论文
共 38 条
[11]   A COMPREHENSIVE SET OF SEQUENCE-ANALYSIS PROGRAMS FOR THE VAX [J].
DEVEREUX, J ;
HAEBERLI, P ;
SMITHIES, O .
NUCLEIC ACIDS RESEARCH, 1984, 12 (01) :387-395
[12]  
DOBSON ADW, 1989, J BIOL CHEM, V264, P4207
[13]   THE STEROID AND THYROID-HORMONE RECEPTOR SUPERFAMILY [J].
EVANS, RM .
SCIENCE, 1988, 240 (4854) :889-895
[14]   THE N-TERMINAL DOMAIN OF THE HUMAN ANDROGEN RECEPTOR IS ENCODED BY ONE, LARGE EXON [J].
FABER, PW ;
KUIPER, GGJM ;
VANROOIJ, HCJ ;
VANDERKORPUT, JAGM ;
BRINKMANN, AO ;
TRAPMAN, J .
MOLECULAR AND CELLULAR ENDOCRINOLOGY, 1989, 61 (02) :257-262
[15]  
FRENCH FS, 1965, J CLIN ENDOCR METAB, V26, P493
[16]   FUNCTIONAL DOMAINS OF THE HUMAN GLUCOCORTICOID RECEPTOR [J].
GIGUERE, V ;
HOLLENBERG, SM ;
ROSENFELD, MG ;
EVANS, RM .
CELL, 1986, 46 (05) :645-652
[17]   EXTRACELLULAR CORRECTION OF THE ANDROGEN-RECEPTOR TRANSFORMATION DEFECT IN 2 FAMILIES WITH COMPLETE ANDROGEN RESISTANCE [J].
GOTTLIEB, B ;
KAUFMAN, M ;
PINSKY, L ;
LEBOEUF, G ;
SOTOS, JF .
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, 1987, 28 (03) :279-284
[18]   NUCLEAR RECEPTORS ENHANCE OUR UNDERSTANDING OF TRANSCRIPTION REGULATION [J].
GREEN, S ;
CHAMBON, P .
TRENDS IN GENETICS, 1988, 4 (11) :309-314
[19]   STRUCTURE OF THE CHROMOSOMAL CHICKEN PROGESTERONE-RECEPTOR GENE [J].
HUCKABY, CS ;
CONNEELY, OM ;
BEATTIE, WG ;
DOBSON, ADW ;
TSAI, MJ ;
OMALLEY, BW .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (23) :8380-8384
[20]   COMPLETE ANDROGEN INSENSITIVITY SYNDROME CHARACTERIZED BY INCREASED CONCENTRATION OF A NORMAL ANDROGEN RECEPTOR IN GENITAL SKIN FIBROBLASTS [J].
HUGHES, IA ;
EVANS, BAJ ;
ISMAIL, R ;
MATTHEWS, J .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1986, 63 (02) :309-315