PAX - GENES FOR MICE AND MEN

被引:90
作者
TREMBLAY, P
GRUSS, P
机构
[1] Max Planck Institut für Biophysikalische Chemie, Abteilung Molekulare Zellbiologie
基金
英国医学研究理事会;
关键词
PAX; PAIRED BOX; HOMEOBOX; MOUSE MUTANTS; UNDULATED; SPLOTCH; SMALL EYE; WAARDENBURG; ANIRIDIA;
D O I
10.1016/0163-7258(94)90063-9
中图分类号
R9 [药学];
学科分类号
1007 ;
摘要
The murine Pax family consists of nine genes containing a highly conserved sequence, the paired box. The expression of these genes is temporally and spatially restricted during development. Evidence gathered indicates that Pax genes are involved in the regionalization of the nervous system and in important inductive events leading to the formation of various organs. The demonstration that mutations in Pax-1, Pax-3 and Pax-6 are linked with various murine mutants (undulated, splotch and small eye) and human diseases (Waardenburg syndrome and aniridia) confirms the importance of these genes as essential morphoregulators. Recent observations also indicate that inappropriate expression of these genes can lead to the appearance of cancer.
引用
收藏
页码:205 / 226
页数:22
相关论文
共 127 条
[1]   PAX-5 ENCODES THE TRANSCRIPTION FACTOR BSAP AND IS EXPRESSED IN LYMPHOCYTES-B, THE DEVELOPING CNS, AND ADULT TESTIS [J].
ADAMS, B ;
DORFLER, P ;
AGUZZI, A ;
KOZMIK, Z ;
URBANEK, P ;
MAURERFOGY, I ;
BUSSLINGER, M .
GENES & DEVELOPMENT, 1992, 6 (09) :1589-1607
[2]  
ALTMAN J, 1984, DEV RAT SPINAL CORD
[3]  
ARNVIG J, 1959, Acta Genet Stat Med, V9, P41
[4]  
ASANO M, 1992, MECH DEVELOP, V33, P27
[5]   ANALYSIS OF THE DEVELOPMENTAL EFFECTS OF A LETHAL MUTATION IN THE HOUSE MOUSE [J].
AUERBACH, R .
JOURNAL OF EXPERIMENTAL ZOOLOGY, 1954, 127 (02) :305-+
[6]   AN EXONIC MUTATION IN THE HUP2 PAIRED DOMAIN GENE CAUSES WAARDENBURG SYNDROME [J].
BALDWIN, CT ;
HOTH, CF ;
AMOS, JA ;
DASILVA, EO ;
MILUNSKY, A .
NATURE, 1992, 355 (6361) :637-638
[7]   UNDULATED, A MUTATION AFFECTING THE DEVELOPMENT OF THE MOUSE SKELETON, HAS A POINT MUTATION IN THE PAIRED BOX OF PAX-1 [J].
BALLING, R ;
DEUTSCH, U ;
GRUSS, P .
CELL, 1988, 55 (03) :531-535
[8]  
BALLING R, 1992, CIBA F SYMP, V165, P132
[9]   A NOVEL B-CELL LINEAGE-SPECIFIC TRANSCRIPTION FACTOR PRESENT AT EARLY BUT NOT LATE STAGES OF DIFFERENTIATION [J].
BARBERIS, A ;
WIDENHORN, K ;
VITELLI, L ;
BUSSLINGER, M .
GENES & DEVELOPMENT, 1990, 4 (05) :849-859
[10]   REARRANGEMENT OF THE PAX3 PAIRED BOX GENE IN THE PEDIATRIC SOLID TUMOR ALVEOLAR RHABDOMYOSARCOMA [J].
BARR, FG ;
GALILI, N ;
HOLICK, J ;
BIEGEL, JA ;
ROVERA, G ;
EMANUEL, BS .
NATURE GENETICS, 1993, 3 (02) :113-117