Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome
Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome
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DOI：
10.1093/hmg/ddm225
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发表时间：
2007-11-15
影响因子：
3.5
通讯作者：
Wevrick, Rachel
中科院分区：
文献类型：
--
作者：
Bischof, Jocelyn M.;Stewart, Colin L.;Wevrick, Rachel
Prader-Willi综合征（PWS）是一种以生长和代谢异常为特征的印迹遗传性肥胖症。尽管生长和代谢缺陷的遗传起源尚未阐明，但具有一个或多个PWS候选基因缺陷的多个小鼠模型已将个体基因与PWS表型的各个方面部分相关。PWS候选基因Magel 2在小鼠中的基因靶向突变导致昼夜节律输出改变和运动活动减少。我们现在报告说，Magel 2基因敲除小鼠表现出新生儿生长迟缓，断奶后体重过度增加，以及成年后代谢改变的肥胖增加，重现了PWS表型的基本方面。Magel 2基因缺失小鼠提供了一个重要的机会，以检查PWS新生儿未能茁壮成长和断奶后体重增加的生理基础，以及昼夜节律，喂养行为和代谢之间的关系。
Prader-Willi syndrome (PWS) is an imprinted genetic obesity disorder characterized by abnormalities of growth and metabolism. Multiple mouse models with deficiency of one or more PWS candidate genes have partially correlated individual genes with aspects of the PWS phenotype, although the genetic origin of defects in growth and metabolism has not been elucidated. Gene-targeted mutation of the PWS candidate gene Magel2 in mice causes altered circadian rhythm output and reduced motor activity. We now report that Magel2-null mice exhibit neonatal growth retardation, excessive weight gain after weaning, and increased adiposity with altered metabolism in adulthood, recapitulating fundamental aspects of the PWS phenotype. Magel2-null mice provide an important opportunity to examine the physiological basis for PWS neonatal failure to thrive and post-weaning weight gain and for the relationships among circadian rhythm, feeding behavior, and metabolism.