Ahch, the mouse homologue of DAX1: Cloning, characterization and synteny with GyK, the glycerol kinase locus

被引:24
作者
Guo, WW
Lovell, RS
Zhang, YH
Huang, BL
Burris, TP
Craigen, WJ
McCabe, ERB
机构
[1] UNIV CALIF LOS ANGELES,SCH MED,DEPT PEDIAT,LOS ANGELES,CA 90024
[2] BAYLOR COLL MED,DEPT MOL & HUMAN GENET,HOUSTON,TX 77030
关键词
adrenal hypoplasia congenita; hypogonadotropic hypogonadism; Duchenne muscular dystrophy; steroidogenic factor 1 response element; dosage sensitive sex reversal locus; zinc-finger domain;
D O I
10.1016/0378-1119(96)00320-4
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We cloned the murine full-length cDNA encoding Ahch, the mouse homologue of DAX1 (DSS-AHC Region on Human X Chromosome, Gene1) which is the gene responsible for human X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH). Sequence analysis revealed that the murine and human cDNAs have 65% aa identity and 75% aa similarity overall. The cysteine residues in the putative DNA binding domain, which may interact with Zn2+ ions to form zinc fingers, are 100% conserved between the two species, indicating that the novel zinc-finger structures in DAX1 may be functional. In addition, mouse interspecific backcrosses show that the Ahch gene is closely linked to the glycerol kinase locus, GyK, on the mouse X chromosome, indicating that the order of the loci is conserved in this syntenic region between mouse and human.
引用
收藏
页码:31 / 34
页数:4
相关论文
共 18 条
[1]  
ALTSCHUL SF, 1990, J MOL BIOL, V215, P403, DOI 10.1006/jmbi.1990.9999
[2]   A DOSAGE SENSITIVE LOCUS AT CHROMOSOME XP21 IS INVOLVED IN MALE TO FEMALE SEX REVERSAL [J].
BARDONI, B ;
ZANARIA, E ;
GUIOLI, S ;
FLORIDIA, G ;
WORLEY, KC ;
TONINI, G ;
FERRANTE, E ;
CHIUMELLO, G ;
MCCABE, ERB ;
FRACCARO, M ;
ZUFFARDI, O ;
CAMERINO, G .
NATURE GENETICS, 1994, 7 (04) :497-501
[3]   HIGH-RESOLUTION COMPARATIVE MAPPING OF THE PROXIMAL REGION OF THE MOUSE X-CHROMOSOME [J].
BLAIR, HJ ;
HO, MF ;
MONACO, AP ;
FISHER, S ;
CRAIG, IW ;
BOYD, Y .
GENOMICS, 1995, 28 (02) :305-310
[4]  
BLAIR HJ, 1994, GENOMICS, V19, P212
[5]  
Burris TP, 1996, RECENT PROG HORM RES, V51, P241
[6]   IDENTIFICATION OF A PUTATIVE STEROIDOGENIC FACTOR-I RESPONSE ELEMENT IN THE DAX-1 PROMOTER [J].
BURRIS, TP ;
GUO, WW ;
LE, T ;
MCCABE, ERB .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1995, 214 (02) :576-581
[7]   COMPARATIVE MAPPING OF THE ACTIN-BINDING PROTEIN-280 GENES IN HUMAN AND MOUSE [J].
GARIBOLDI, M ;
MAESTRINI, E ;
CANZIAN, F ;
MANENTI, G ;
DEGREGORIO, L ;
RIVELLA, S ;
CHATTERJEE, A ;
HERMAN, GE ;
ARCHIDIACONO, N ;
ANTONACCI, R ;
PIEROTTI, MA ;
DRAGANI, TA ;
TONIOLO, D .
GENOMICS, 1994, 21 (02) :428-430
[8]   Genomic sequence of the DAX1 gene: An orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism [J].
Guo, WW ;
Burris, TP ;
Zhang, YH ;
Huang, BL ;
Mason, J ;
Copeland, KC ;
Kupfer, SR ;
Pagon, RA ;
McCabe, ERB .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1996, 81 (07) :2481-2486
[9]   EXPRESSION OF DAX-1, THE GENE RESPONSIBLE FOR X-LINKED ADRENAL HYPOPLASIA CONGENITA AND HYPOGONADOTROPIC HYPOGONADISM, IN THE HYPOTHALAMIC-PITUITARY-ADRENAL GONADAL AXIS [J].
GUO, WW ;
BURRIS, TP ;
MCCABE, ERB .
BIOCHEMICAL AND MOLECULAR MEDICINE, 1995, 56 (01) :8-13
[10]   DIAGNOSIS OF X-LINKED ADRENAL HYPOPLASIA CONGENITA BY MUTATION ANALYSIS OF THE DAX1 GENE [J].
GUO, WW ;
MASON, JS ;
STONE, CG ;
MORGAN, SA ;
MADU, SI ;
BALDINI, A ;
LINDSAY, EA ;
BIESECKER, LG ;
COPELAND, KC ;
HORLICK, MNB ;
PETTIGREW, AL ;
ZANARIA, E ;
MCCABE, ERB .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1995, 274 (04) :324-330