A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

被引：487
作者：
Achermann, JC
Ito, M
Ito, M
Hindmarsh, PC
Jameson, JL
机构：
[1] Northwestern Univ, Sch Med, Div Endocrinol Metab & Mol Med, Chicago, IL 60611 USA
[2] UCL, London Ctr Pediat Endocrinol, Cobbold Labs, London W1N 8AA, England
来源：
NATURE GENETICS | 1999年 / 22卷 / 02期
关键词：
D O I：
10.1038/9629
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：125 / 126
页数：2
相关论文
共 15 条
  • [1] Donor splice-site mutations in WT1 are responsible for Frasier syndrome
    Barbaux, S
    Niaudet, P
    Gubler, MC
    Grunfeld, JP
    Jaubert, F
    Kuttenn, F
    Fekete, CN
    SouleyreauTherville, N
    Thibaud, E
    Fellous, M
    McElreavey, K
    [J]. NATURE GENETICS, 1997, 17 (04) : 467 - 470
  • [2] A DOSAGE SENSITIVE LOCUS AT CHROMOSOME XP21 IS INVOLVED IN MALE TO FEMALE SEX REVERSAL
    BARDONI, B
    ZANARIA, E
    GUIOLI, S
    FLORIDIA, G
    WORLEY, KC
    TONINI, G
    FERRANTE, E
    CHIUMELLO, G
    MCCABE, ERB
    FRACCARO, M
    ZUFFARDI, O
    CAMERINO, G
    [J]. NATURE GENETICS, 1994, 7 (04) : 497 - 501
  • [3] STEROIDOGENIC FACTOR-I BINDING AND TRANSCRIPTIONAL ACTIVITY OF THE CHOLESTEROL SIDE-CHAIN CLEAVAGE PROMOTER IN RAT GRANULOSA-CELLS
    CLEMENS, JW
    LALA, DS
    PARKER, KL
    RICHARDS, JS
    [J]. ENDOCRINOLOGY, 1994, 134 (03) : 1499 - 1508
  • [4] CAMPOMELIC DYSPLASIA AND AUTOSOMAL SEX REVERSAL CAUSED BY MUTATIONS IN AN SRY-RELATED GENE
    FOSTER, JW
    DOMINGUEZSTEGLICH, MA
    GUIOLI, S
    KWOK, C
    WELLER, PA
    STEVANOVIC, M
    WEISSENBACH, J
    MANSOUR, S
    YOUNG, ID
    GOODFELLOW, PN
    BROOK, JD
    SCHAFER, AJ
    [J]. NATURE, 1994, 372 (6506) : 525 - 530
  • [5] Giuili G, 1997, DEVELOPMENT, V124, P1799
  • [6] Mutant vasopressin precursors that cause autosomal dominant neurohypophyseal diabetes insipidus retain dimerization and impair the secretion of wild-type proteins
    Ito, M
    Yu, RN
    Jameson, JL
    Ito, M
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 1999, 274 (13) : 9029 - 9037
  • [7] WT-1 IS REQUIRED FOR EARLY KIDNEY DEVELOPMENT
    KREIDBERG, JA
    SARIOLA, H
    LORING, JM
    MAEDA, M
    PELLETIER, J
    HOUSMAN, D
    JAENISCH, R
    [J]. CELL, 1993, 74 (04) : 679 - 691
  • [8] STEROIDOGENIC FACTOR-I, A KEY REGULATOR OF STEROIDOGENIC ENZYME EXPRESSION, IS THE MOUSE HOMOLOG OF FUSHI-TARAZU-FACTOR-1
    LALA, DS
    RICE, DA
    PARKER, KL
    [J]. MOLECULAR ENDOCRINOLOGY, 1992, 6 (08) : 1249 - 1258
  • [9] A CELL-SPECIFIC NUCLEAR RECEPTOR IS ESSENTIAL FOR ADRENAL AND GONADAL DEVELOPMENT AND SEXUAL-DIFFERENTIATION
    LUO, XR
    IKEDA, YY
    PARKER, KL
    [J]. CELL, 1994, 77 (04) : 481 - 490
  • [10] 3 AMINO-ACIDS OF THE ESTROGEN-RECEPTOR ARE ESSENTIAL TO ITS ABILITY TO DISTINGUISH AN ESTROGEN FROM A GLUCOCORTICOID-RESPONSIVE ELEMENT
    MADER, S
    KUMAR, V
    DEVERNEUIL, H
    CHAMBON, P
    [J]. NATURE, 1989, 338 (6212) : 271 - 274
12