Steroid 21-Hydroxylase Deficiency in Mice. An Animal Model for Congenital Adrenal Hyperplasia.:—An Animal Model for Congenital Adrenal Hyperplasia—
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The classical form of congenital adrenal hyperplasia (CAH) in humans is caused by a deficiency in steroid 21-hydroxylase (21-OHase) . The enzyme 21-OHase plays a key role in adrenal steroidogenesis. Duplicated genes for the enzyme are located in the class III region of the major histocompatibility complex (MHC), <I>HLA</I>. In the mouse, the genes encoding 21-OHase have been mapped to the homologous region of the <I>H-2</I> complex. We have previously obtained an intra-<I>H-2</I> recombinant haplotype <I>aw18</I> from a cross between <I>H-2</I> congenic strains of B10. A (<I>H-2<SUP>a</SUP></I>) and B10. MOL-SGR (<I>H-2</I><SUP><I>wm</I>7</SUP>), which carries the <I>H-2</I> complex derived from the Japanese wild mouse. When mice that were heterozygous for <I>aw18</I> were intercrossed, no mice that were homozygous for the <I>aw18</I> haplotype were detected among live offspring of more than 15 days of age, which suggested presence of a recessive lethal gene in the <I>H-2</I><SUP><I>aw</I>18</SUP> haplotype. Molecular analysis of the <I>H-2</I><SUP><I>aw</I>18</SUP> chromosome has revealed a deletion in the <I>H-2</I> class III region encompassing the gene for the complement component C4 and one of two genes for 21-OHase. We now report that newborn <I>aw18</I> homozygous mice are deficient in 21-OHase activity, and that homozygosity of the <I>aw18</I> haplotype directly causes death at the early postnatal stage. Morphological changes in the adrenal glands of newborn <I>aw18</I> homozygotes are also observed. The <I>aw18</I> recombinant haplotype is expected to serve as a useful animal model for the inherited human disease of CAH.
- 公益社団法人 日本実験動物学会の論文
公益社団法人 日本実験動物学会 | 論文
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