Investigating cortical features of Sotos syndrome using mice heterozygous for Nsd1.,Genes, Brain and Behavior

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Investigating cortical features of Sotos syndrome using mice heterozygous for Nsd1.
Genes, Brain and Behavior ( IF 2.4 ) Pub Date : 2020-01-14 , DOI: 10.1111/gbb.12637
Sabrina Oishi ₁ , Oressia Zalucki ₁ , Michelle S Vega ₂ , Danyon Harkins ₁ , Tracey J Harvey ₁ , Maria Kasherman ₁ , Raul A Davila ₁ , Lauren Hale ₁ , Melissa White ₃ , Sandra Piltz ₃ , Paul Thomas ₃ , Thomas H J Burne _{2,

4} , Lachlan Harris ₁ , Michael Piper _{1,

2}

Affiliation

Sotos syndrome is a developmental disorder characterized by a suite of clinical features. In children, the three cardinal features of Sotos syndrome are a characteristic facial appearance, learning disability and overgrowth (height and/or head circumference > 2 SDs above average). These features are also evident in adults with this syndrome. Over 90% of Sotos syndrome patients are haploinsufficient for the gene encoding nuclear receptor‐binding Su(var)3‐9, Enhancer‐of‐zesteand Trithorax domain‐containing protein 1 (NSD1). NSD1 is a histone methyltransferase that catalyzes the methylation of lysine residue 36 on histone H3. However, although the symptomology of Sotos syndrome is well established, many aspects of NSD1 biology remain unknown. Here, we assessed the expression of Nsd1 within the mouse brain, and showed a predominantly neuronal pattern of expression for this histone‐modifying factor. We also generated a mouse strain lacking one allele of Nsd1 and analyzed morphological and behavioral characteristics in these mice, showing behavioral characteristics reminiscent of some of the deficits seen in Sotos syndrome patients.

中文翻译：

使用对Nsd1杂合的小鼠研究Sotos综合征的皮质特征。

Sotos综合征是一种发展性疾病，其特征是具有一系列临床特征。在儿童中，Sotos综合征的三个主要特征是特征性的面部表情，学习障碍和过度生长（身高和/或头围> 2 SD高于平均水平）。这些特征在患有这种综合征的成年人中也很明显。超过90％的Sotos综合征患者对编码核受体结合Su（var）3-9，增强型Zeste和Trithorax域含蛋白1（NSD1）的基因的单倍不足。NSD1是一种组蛋白甲基转移酶，可催化组蛋白H3上赖氨酸残基36的甲基化。但是，尽管Sotos综合征的症状已得到充分确立，但NSD1生物学的许多方面仍然未知。在这里，我们评估了Nsd1的表达在小鼠大脑中的表达，并显示该组蛋白修饰因子的主要神经元表达模式。我们还生成了一个小鼠品系，该品系缺少一个Nsd1等位基因，并分析了这些小鼠的形态和行为特征，显示出其行为特征让人联想到在Sotos综合征患者中看到的某些缺陷。

更新日期：2020-01-14

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