title: Ahch, the mouse homologue of DAX1: cloning, characterization and synteny with GyK, the glycerol kinase locus.
abstract: 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.
authors.affiliation: Department of Pediatrics, UCLA School of Medicine 90024, USA.
authors.forename: W
authors.initials: W
authors.lastname: Guo
authors.forename: R S
authors.initials: RS
authors.lastname: Lovell
authors.forename: Y H
authors.initials: YH
authors.lastname: Zhang
authors.forename: B L
authors.initials: BL
authors.lastname: Huang
authors.forename: T P
authors.initials: TP
authors.lastname: Burris
authors.forename: W J
authors.initials: WJ
authors.lastname: Craigen
authors.forename: E R
authors.initials: ER
authors.lastname: McCabe
mesh_terms: D000311:Adrenal Glands / Q000002:abnormalities; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D057137:DAX-1 Orphan Nuclear Receptor; D018076:DNA, Complementary; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D005991:Glycerol Kinase / Q000235:genetics*; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D012097:Repressor Proteins; D017386:Sequence Homology, Amino Acid; D013737:Testis / Q000378:metabolism; D014157:Transcription Factors / Q000235:genetics*; D014960:X Chromosome; D016335:Zinc Fingers
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; D018076:DNA, Complementary; D004268:DNA-Binding Proteins; C539965:NR0B1 protein, human; C539966:Nr0b1 protein, mouse; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins; D014157:Transcription Factors; D005991:Glycerol Kinase