PIT-1 AND HYPOPITUITARISM

被引：33

作者：

PARKS, JS

KINOSHITA, EI

PFAFFLE, RW

机构：

[1] RHEIN WESTFAL TH AACHEN,SCH MED,DEPT PEDIAT,AACHEN,GERMANY

[2] NAGASAKI UNIV,SCH MED,DEPT PEDIAT,NAGASAKI 852,JAPAN

来源：

TRENDS IN ENDOCRINOLOGY AND METABOLISM | 1993年 / 4卷 / 03期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1016/1043-2760(93)90083-Q

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The story of Pit-1 and hypopituitarism in humans provides an excellent example of pleiotrophism or multiple phenotypic effects resulting from a single genetic alteration. It shows how defects in this single gene cause the absence of several pituitary hormones. Three recent articles reviewed here provide examples of different mutations in this homeobox gene encoding a transcriptional activation protein that is vital to the embryologic development, survival, and differentiated function of somatotropes, lactotropes, and thyrotropes.

引用

收藏

页码：81 / 85

页数：5

相关论文

共 19 条

[1] RECURRENT NONSENSE MUTATIONS IN THE GROWTH-HORMONE RECEPTOR FROM PATIENTS WITH LARON DWARFISM [J].

AMSELEM, S ;

SOBRIER, ML ;

DUQUESNOY, P ;

RAPPAPORT, R ;

POSTELVINAY, MC ;

GOURMELEN, M ;

DALLAPICCOLA, B ;

GOOSSENS, M .

JOURNAL OF CLINICAL INVESTIGATION, 1991, 87 (03) :1098-1102

[2] THE PITUITARY-SPECIFIC TRANSCRIPTION FACTOR-GHF-1 IS A HOMEOBOX-CONTAINING PROTEIN [J].

BODNER, M ;

CASTRILLO, JL ;

THEILL, LE ;

DEERINCK, T ;

ELLISMAN, M ;

KARIN, M .

CELL, 1988, 55 (03) :505-518

[3] FUNCTION OF THE HOMEODOMAIN PROTEIN GHF1 IN PITUITARY CELL-PROLIFERATION [J].

CASTRILLO, JL ;

THEILL, LE ;

KARIN, M .

SCIENCE, 1991, 253 (5016) :197-199

[4] THE HOMEODOMAIN PROTEIN, PIT-1/GHF-1, IS CAPABLE OF BINDING TO AND ACTIVATING CELL-SPECIFIC ELEMENTS OF BOTH THE GROWTH-HORMONE AND PROLACTIN GENE PROMOTERS [J].

FOX, SR ;

JONG, MTC ;

CASANOVA, J ;

YE, ZS ;

STANLEY, F ;

SAMUELS, HH .

MOLECULAR ENDOCRINOLOGY, 1990, 4 (07) :1069-1080

[5] THE POU DOMAIN - A LARGE CONSERVED REGION IN THE MAMMALIAN PIT-1, OCT-1, OCT-2, AND CAENORHABDITIS-ELEGANS UNC-86 GENE-PRODUCTS [J].

HERR, W ;

STURM, RA ;

CLERC, RG ;

CORCORAN, LM ;

BALTIMORE, D ;

SHARP, PA ;

INGRAHAM, HA ;

ROSENFELD, MG ;

FINNEY, M ;

RUVKUN, G ;

HORVITZ, HR .

GENES & DEVELOPMENT, 1988, 2 (12A) :1513-1516

[6] THE POU-SPECIFIC DOMAIN OF PIT-1 IS ESSENTIAL FOR SEQUENCE-SPECIFIC, HIGH-AFFINITY DNA-BINDING AND DNA-DEPENDENT PIT-1-PIT-1 INTERACTIONS [J].

INGRAHAM, HA ;

FLYNN, SE ;

VOSS, JW ;

ALBERT, VR ;

KAPILOFF, MS ;

WILSON, L ;

ROSENFELD, MG .

CELL, 1990, 61 (06) :1021-1033

[7] PITUITARY CRETINISM IN 2 SISTERS [J].

KOHNO, H ;

WATANABE, N ;

OOTSUKA, M ;

KAJIWARA, M ;

GOHYA, N .

ARCHIVES OF DISEASE IN CHILDHOOD, 1980, 55 (09) :725-727

[8] DWARF LOCUS MUTANTS LACKING 3 PITUITARY CELL-TYPES RESULT FROM MUTATIONS IN THE POU-DOMAIN GENE PIT-1 [J].

LI, S ;

CRENSHAW, EB ;

RAWSON, EJ ;

SIMMONS, DM ;

SWANSON, LW ;

ROSENFELD, MG .

NATURE, 1990, 347 (6293) :528-533

[9] A PITUITARY POU DOMAIN PROTEIN, PIT-1, ACTIVATES BOTH GROWTH-HORMONE AND PROLACTIN PROMOTERS TRANSCRIPTIONALLY [J].

MANGALAM, HJ ;

ALBERT, VR ;

INGRAHAM, HA ;

KAPILOFF, M ;

WILSON, L ;

NELSON, C ;

ELSHOLTZ, H ;

ROSENFELD, MG .

GENES & DEVELOPMENT, 1989, 3 (07) :946-958

[10] MUTATIONS IN THE PIT-1 GENE IN CHILDREN WITH COMBINED PITUITARY-HORMONE DEFICIENCY [J].

OHTA, K ;

NOBUKUNI, Y ;

MITSUBUCHI, H ;

FUJIMOTO, S ;

MATSUO, N ;

INAGAKI, H ;

ENDO, F ;

MATSUDA, I .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1992, 189 (02) :851-855