LOSS OF THE IMPRINTED IGF2/CATION-INDEPENDENT MANNOSE 6-PHOSPHATE RECEPTOR RESULTS IN FETAL OVERGROWTH AND PERINATAL LETHALITY
LOSS OF THE IMPRINTED IGF2/CATION-INDEPENDENT MANNOSE 6-PHOSPHATE RECEPTOR RESULTS IN FETAL OVERGROWTH AND PERINATAL LETHALITY
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DOI：
10.1101/gad.8.24.2953
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发表时间：
1994-12-15
影响因子：
10.5
通讯作者：
STEWART, CL
中科院分区：
文献类型：
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作者：
LAU, MMH;STEWART, CEH;STEWART, CL
从其父亲遗传了非功能性胰岛素样生长因子-II/阳离子非依赖性甘露糖6-磷酸受体（IG/2 r）基因的小鼠胚胎是可存活的并且正常发育成成年小鼠。然而，大多数从母亲那里继承了相同突变等位基因的小鼠在出生时死亡，这是主要心脏异常的结果。这些小鼠在其组织中不表达IGF 2 R，比其正常同胞大25-30%，具有升高的循环IGF 2和IGF结合蛋白水平，并且在它们的尾巴中表现出轻微的扭结。这些结果表明，IG/2 r是父系印记，并揭示受体是至关重要的调节正常胎儿生长，循环水平的IGF 2，和心脏发育。
Murine embryos that inherit a nonfunctional insulin-like growth factor-II/cation-independent mannose 6-phosphate receptor (Ig/2r) gene from their fathers are viable and develop normally into adults. However, the majority of mice inheriting the same mutated allele from their mothers die around birth, as a consequence of major cardiac abnormalities. These mice do not express IGF2R in their tissues, are 25-30% larger than their normal siblings, have elevated levels of circulating IGF2 and IGF-binding proteins, and exhibit a slight kink in their tails. These results show that Ig/2r is paternally imprinted and reveal that the receptor is crucial for regulating normal fetal growth, circulating levels of IGF2, and heart development.