在小鼠中,产前乙醇暴露的致畸作用会因音猬因子(Sonic Hedgehog)或GLI2单倍剂量不足而加剧。

The teratogenic effects of prenatal ethanol exposure are exacerbated by Sonic Hedgehog or GLI2 haploinsufficiency in the mouse.

作者信息

Kietzman Henry W, Everson Joshua L, Sulik Kathleen K, Lipinski Robert J

机构信息

The Bowles Center for Alcohol Studies, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States of America.

The Bowles Center for Alcohol Studies, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States of America ; Department of Comparative Biosciences, University of Wisconsin-Madison, Madison, Wisconsin, United States of America.

出版信息

PLoS One. 2014 Feb 19;9(2):e89448. doi: 10.1371/journal.pone.0089448. eCollection 2014.

Abstract

Disruption of the Hedgehog signaling pathway has been implicated as an important molecular mechanism in the pathogenesis of fetal alcohol syndrome. In severe cases, the abnormalities of the face and brain that result from prenatal ethanol exposure fall within the spectrum of holoprosencephaly. Single allele mutations in the Hh pathway genes Sonic Hedgehog (SHH) and GLI2 cause holoprosencephaly with extremely variable phenotypic penetrance in humans. Here, we tested whether mutations in these genes alter the frequency or severity of ethanol-induced dysmorphology in a mouse model. Timed pregnancies were established by mating Shh(+/-) or Gli2(+/-) male mice backcrossed to C57BL/6J strain, with wildtype females. On gestational day 7, dams were treated with two i.p. doses of 2.9 g/kg ethanol (or vehicle alone), administered four hrs apart. Fetuses were then genotyped and imaged, and the severity of facial dysmorphology was assessed. Following ethanol exposure, mean dysmorphology scores were increased by 3.2- and 6.6-fold in Shh(+/-) and Gli2(+/-) groups, respectively, relative to their wildtype littermates. Importantly, a cohort of heterozygous fetuses exhibited phenotypes not typically produced in this model but associated with severe holoprosencephaly, including exencephaly, median cleft lip, otocephaly, and proboscis. As expected, a correlation between the severity of facial dysmorphology and medial forebrain deficiency was observed in affected animals. While Shh(+/-) and Gli2(+/-) mice have been described as phenotypically normal, these results illustrate a functional haploinsufficiency of both genes in combination with ethanol exposure. By demonstrating an interaction between specific genetic and environmental risk factors, this study provides important insights into the multifactorial etiology and complex pathogenesis of fetal alcohol syndrome and holoprosencephaly.

摘要

刺猬信号通路的破坏被认为是胎儿酒精综合征发病机制中的一个重要分子机制。在严重情况下,产前乙醇暴露导致的面部和脑部异常属于全前脑畸形的范畴。刺猬信号通路基因音猬因子(SHH)和GLI2的单等位基因突变会导致人类全前脑畸形,其表型外显率变化极大。在此,我们在小鼠模型中测试了这些基因的突变是否会改变乙醇诱导的畸形频率或严重程度。通过将回交至C57BL/6J品系的Shh(+/-)或Gli2(+/-)雄性小鼠与野生型雌性小鼠交配来建立定时妊娠。在妊娠第7天,给母鼠腹腔注射两剂2.9 g/kg乙醇(或仅注射溶剂),间隔4小时给药。然后对胎儿进行基因分型和成像,并评估面部畸形的严重程度。乙醇暴露后,相对于野生型同窝仔鼠,Shh(+/-)和Gli2(+/-)组的平均畸形评分分别增加了3.2倍和6.6倍。重要的是,一群杂合子胎儿表现出该模型中通常不会出现但与严重全前脑畸形相关的表型,包括露脑畸形、正中唇裂、耳头畸形和鼻状突起。正如预期的那样,在受影响的动物中观察到面部畸形严重程度与内侧前脑缺陷之间存在相关性。虽然Shh(+/-)和Gli2(+/-)小鼠被描述为表型正常,但这些结果表明这两个基因在与乙醇暴露结合时存在功能性单倍剂量不足。通过证明特定遗传和环境风险因素之间的相互作用,本研究为胎儿酒精综合征和全前脑畸形的多因素病因和复杂发病机制提供了重要见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2235/3929747/fb48bd7dceea/pone.0089448.g001.jpg

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