Banko M L, Allen K M, Dolina S, Neumann P E, Seyfried T N
Department of Biology, Boston College, Chestnut Hill, Massachusetts 02167, USA.
Behav Genet. 1997 Sep;27(5):465-75. doi: 10.1023/a:1025626501148.
Audiogenic seizure (AGS) susceptibility in mice is a multifactorial behavioral disorder that involves severe generalized convulsions in response to loud, high-frequency sound. The inheritance of AGS susceptibility was examined in crosses between AGS-susceptible DBA/2J (D2) mice and epilepsy-prone (EP) mice. The EP mice were selected for high AGS susceptibility in a BALB/c-derived line. The AGS phenotype was similar in the EP and D2 mice at 30 days of age. The frequency of generalized clonic-tonic AGS was high in both the D2 and the EP mice (53 and 83%, respectively) but was low in the reciprocal EPD2F1 and D2EPF1 hybrids (14 and 19%, respectively). In the backcross to the EP parent, no significant associations were found between AGS susceptibility and microsatellite markers linked to Asp1 or Asp2, AGS genes located on Chromosomes 12 and 4, respectively. Significant associations were found for markers linked to Asp3, which is located in the proximal region of Chromosome 7. The influence of Asp3 on AGS susceptibility was seen in the EP x EPD2F1 backcross but not in the reciprocal EPD2F1 x EP backcross, suggesting that Asp3 expression is influenced by genomic imprinting. A model is proposed where genomic imprinting represses the maternal Asp3 allele, providing an influence largely from the paternal allele.
小鼠的听源性癫痫（AGS）易感性是一种多因素行为障碍，其特征是对响亮的高频声音产生严重的全身性惊厥。在AGS易感的DBA/2J（D2）小鼠和癫痫易感（EP）小鼠的杂交后代中研究了AGS易感性的遗传情况。EP小鼠是在BALB/c衍生品系中选择出的具有高AGS易感性的小鼠。EP小鼠和D2小鼠在30日龄时的AGS表型相似。全身性阵挛 - 强直性AGS的发生率在D2小鼠和EP小鼠中都很高（分别为53%和83%），但在反交的EPD2F1和D2EPF1杂种中较低（分别为14%和19%）。在与EP亲本的回交中，未发现AGS易感性与分别位于12号和4号染色体上的AGS基因Asp1或Asp2相关的微卫星标记之间存在显著关联。然而，发现与位于7号染色体近端区域的Asp3相关的标记存在显著关联。在EP×EPD2F1回交中观察到Asp3对AGS易感性的影响，但在反交的EPD2F1×EP回交中未观察到，这表明Asp3的表达受基因组印记的影响。提出了一个模型，其中基因组印记抑制母本的Asp3等位基因，主要由父本等位基因发挥作用。
