SOX3 IS AN X-LINKED GENE-RELATED TO SRY

被引:187
作者
STEVANOVIC, M
LOVELLBADGE, R
COLLIGNON, J
GOODFELLOW, PN
机构
[1] MRC, NATL INST MED RES, EUKARYOT MOLEC GENET LAB, LONDON NW7 1AA, ENGLAND
[2] INST MOLEC GENET & GENET ENGN, YU-11001 BELGRADE, YUGOSLAVIA
基金
英国惠康基金; 英国医学研究理事会;
关键词
D O I
10.1093/hmg/2.12.2013
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The mammalian genome contains a family of genes that are related to SRY, the mammalian sex determining gene. The homology is restricted to the region of SRY that encodes a DNA binding motif of the HMG-box class. These genes have been named SOX genes (SRY-related HMG-box genes). We have cloned and characterised SOX3, a member of the human SOX gene family. SOX3 maps to the X chromosome in the region Xq26-27. A mentally retarded male patient with haemophilia B is deleted for both the Factor IX gene and SOX3. This suggests that SOX3 is not essential for testis formation. The phenotype of the patient and the expression of SOX3 gene in neuronal tissues raises the possibility that this gene is a candidate gene for Borjeson-Forssman-Lehmann, n X-linked mental retardation syndrome.
引用
收藏
页码:2013 / 2018
页数:6
相关论文
共 43 条
[1]   DETAILED ORDERING OF MARKERS LOCALIZING TO THE XQ26-ZQTER REGION OF THE HUMAN X-CHROMOSOME BY THE USE OF AN INTERSPECIFIC MUS-SPRETUS MOUSE CROSS [J].
AVNER, P ;
AMAR, L ;
ARNAUD, D ;
HANAUER, A ;
CAMBROU, J .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (06) :1629-1633
[2]   REPORT OF THE COMMITTEE-ON-THE-GENETIC-CONSTITUTION-OF-THE-X-CHROMOSOME [J].
DAVIES, KE ;
MANDEL, JL ;
MONACO, AP ;
NUSSBAUM, RL ;
WILLARD, HF .
CYTOGENETICS AND CELL GENETICS, 1991, 58 (1-2) :853-966
[3]   AN SRY-RELATED GENE EXPRESSED DURING SPERMATOGENESIS IN THE MOUSE ENCODES A SEQUENCE-SPECIFIC DNA-BINDING PROTEIN [J].
DENNY, P ;
SWIFT, S ;
CONNOR, F ;
ASHWORTH, A .
EMBO JOURNAL, 1992, 11 (10) :3705-3712
[4]   A CONSERVED FAMILY OF GENES RELATED TO THE TESTIS DETERMINING GENE, SRY [J].
DENNY, P ;
SWIFT, S ;
BRAND, N ;
DABHADE, N ;
BARTON, P ;
ASHWORTH, A .
NUCLEIC ACIDS RESEARCH, 1992, 20 (11) :2887-2887
[5]   DROSOPHILA TRANSCRIPTIONAL REPRESSOR PROTEIN THAT BINDS SPECIFICALLY TO NEGATIVE CONTROL ELEMENTS IN FAT-BODY ENHANCERS [J].
FALB, D ;
MANIATIS, T .
MOLECULAR AND CELLULAR BIOLOGY, 1992, 12 (09) :4093-4103
[6]   TELOMERE-ASSOCIATED CHROMOSOME FRAGMENTATION - APPLICATIONS IN GENOME MANIPULATION AND ANALYSIS [J].
FARR, CJ ;
STEVANOVIC, M ;
THOMSON, EJ ;
GOODFELLOW, PN ;
COOKE, HJ .
NATURE GENETICS, 1992, 2 (04) :275-282
[7]  
FARR CJ, 1993, IN PRESS MAMMALIAN G
[8]   HOMOLOGOUS RIBOSOMAL-PROTEIN GENES ON THE HUMAN X-CHROMOSOME AND Y-CHROMOSOME - ESCAPE FROM X-INACTIVATION AND POSSIBLE IMPLICATIONS FOR TURNER SYNDROME [J].
FISHER, EMC ;
BEERROMERO, P ;
BROWN, LG ;
RIDLEY, A ;
MCNEIL, JA ;
LAWRENCE, JB ;
WILLARD, HF ;
BIEBER, FR ;
PAGE, DC .
CELL, 1990, 63 (06) :1205-1218
[9]   NEW METHOD FOR MAPPING GENES IN HUMAN CHROMOSOMES [J].
GOSS, SJ ;
HARRIS, H .
NATURE, 1975, 255 (5511) :680-684
[10]   PARTIAL CLONING OF SOX-11 AND SOX-12, 2 NEW HUMAN SOX GENES [J].
GOZE, C ;
POULAT, F ;
BERTA, P .
NUCLEIC ACIDS RESEARCH, 1993, 21 (12) :2943-2943