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

作者信息

Guo W, Lovell R S, Zhang Y H, Huang B L, Burris T P, Craigen W J, McCabe E R

机构信息

Department of Pediatrics, UCLA School of Medicine 90024, USA.

出版信息

Gene. 1996 Oct 31;178(1-2):31-4. doi: 10.1016/0378-1119(96)00320-4.

DOI:10.1016/0378-1119(96)00320-4
PMID:8921887
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.

摘要

相似文献

1
Ahch, the mouse homologue of DAX1: cloning, characterization and synteny with GyK, the glycerol kinase locus.
Gene. 1996 Oct 31;178(1-2):31-4. doi: 10.1016/0378-1119(96)00320-4.
2
The gene responsible for adrenal hypoplasia congenita, DAX-1, encodes a nuclear hormone receptor that defines a new class within the superfamily.导致先天性肾上腺发育不全的基因DAX-1,编码一种核激素受体,该受体在超家族中定义了一个新类别。
Recent Prog Horm Res. 1996;51:241-59; discussion 259-60.
3
Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene.通过DAX1基因突变分析诊断X连锁先天性肾上腺发育不全
JAMA. 1995 Jul 26;274(4):324-30.
4
Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.DAX1基因的基因组序列:一种与X连锁先天性肾上腺发育不全和低促性腺激素性性腺功能减退相关的孤儿核受体。
J Clin Endocrinol Metab. 1996 Jul;81(7):2481-6. doi: 10.1210/jcem.81.7.8675564.
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Novel mutation of the DAX1 gene in a patient with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.一名患有X连锁先天性肾上腺发育不全和低促性腺激素性性腺功能减退患者的DAX1基因新突变。
Am J Med Genet. 1998 Feb 26;76(1):62-6. doi: 10.1002/(sici)1096-8628(19980226)76:1<62::aid-ajmg11>3.0.co;2-n.
6
Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function.小鼠Dax1的表达与性别决定以及肾上腺和下丘脑功能中的作用一致。
Nat Genet. 1996 Apr;12(4):404-9. doi: 10.1038/ng0496-404.
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Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita.低促性腺激素性性腺功能减退作为迟发性X连锁先天性肾上腺发育不全的首发特征。
J Clin Endocrinol Metab. 2002 Jan;87(1):44-8. doi: 10.1210/jcem.87.1.8163.
8
Cloning and expression of a DAX1 homologue in the chicken embryo.鸡胚胎中DAX1同源物的克隆与表达
J Mol Endocrinol. 2000 Feb;24(1):23-32. doi: 10.1677/jme.0.0240023.
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DAX1 mutations map to putative structural domains in a deduced three-dimensional model.DAX1突变定位到推导的三维模型中的假定结构域。
Am J Hum Genet. 1998 Apr;62(4):855-64. doi: 10.1086/301782.
10
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.DAX-1基因的突变会导致X连锁先天性肾上腺发育不全和低促性腺激素性性腺功能减退。
Nature. 1994 Dec 15;372(6507):672-6. doi: 10.1038/372672a0.

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Repression of the rat steroidogenic acute regulatory (StAR) protein gene by PGF2alpha is modulated by the negative transcription factor DAX-1.
前列腺素F2α对大鼠类固醇生成急性调节蛋白(StAR)基因的抑制作用受负转录因子DAX-1调控。
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4
DAX1 mutations map to putative structural domains in a deduced three-dimensional model.DAX1突变定位到推导的三维模型中的假定结构域。
Am J Hum Genet. 1998 Apr;62(4):855-64. doi: 10.1086/301782.