Gy突变：小鼠X连锁低磷血症的另一个病因。
The Gy mutation: another cause of X-linked hypophosphatemia in mouse.
作者信息
Lyon M F, Scriver C R, Baker L R, Tenenhouse H S, Kronick J, Mandla S
出版信息
Proc Natl Acad Sci U S A. 1986 Jul;83(13):4899-903. doi: 10.1073/pnas.83.13.4899.
Abstract
An X-linked dominant mutation (gyro, gene symbol Gy) in the laboratory mouse causes hypophosphatemia, rickets/osteomalacia, circling behavior, inner ear abnormalities, and sterility in males and a milder phenotype in females. Gy maps closely (crossover value 0.4-0.8%) to another X-linked gene (Hyp) that also causes hypophosphatemia in the mouse. Gy and Hyp genes have similar quantitative expression in serum phosphorus values, renal excretion of phosphate, and impairment of Na+/phosphate cotransport by renal brush-border membrane vesicles. These findings indicate that independent translation products of two X-linked genes serve phosphate transport in mouse kidney and thereby control phosphate content of extracellular fluid. The Gy translation product, unlike the Hyp product, is also expressed in the inner ear. These findings have implications for our understanding of the human counterpart known as "X-linked hypophosphatemia."
摘要
实验室小鼠中的一种X连锁显性突变（gyro，基因符号Gy）会导致低磷血症、佝偻病/骨软化症、转圈行为、内耳异常以及雄性不育，而雌性的表型则较轻。Gy与另一个也会导致小鼠低磷血症的X连锁基因（Hyp）紧密连锁（交换值为0.4 - 0.8%）。Gy和Hyp基因在血清磷值、磷酸盐的肾脏排泄以及肾刷状缘膜囊泡对Na⁺/磷酸盐共转运的损害方面具有相似的定量表达。这些发现表明，两个X连锁基因的独立翻译产物在小鼠肾脏中参与磷酸盐转运，从而控制细胞外液中的磷酸盐含量。与Hyp产物不同，Gy翻译产物也在内耳中表达。这些发现对于我们理解人类对应的“X连锁低磷血症”具有启示意义。
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Proc Natl Acad Sci U S A. 1976 Dec;73(12):4667-71. doi: 10.1073/pnas.73.12.4667.
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