Investigating cortical features of Sotos syndrome using mice heterozygous for Nsd1
Autor: | Tracey J. Harvey, Thomas H. J. Burne, Lauren Hale, Raul Ayala Davila, Sandra Piltz, Paul Q. Thomas, Melissa White, Oressia Zalucki, Lachlan Harris, Danyon Harkins, Michael Piper, Sabrina Oishi, Maria Kasherman, Michelle C. Sanchez Vega |
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Rok vydání: | 2020 |
Předmět: |
Male
0301 basic medicine Heterozygote medicine.medical_specialty Biology Mice 03 medical and health sciences Behavioral Neuroscience Histone H3 0302 clinical medicine Internal medicine Intellectual disability Genetics medicine Animals Allele 10. No inequality Cerebral Cortex Neurons Sotos Syndrome Sotos syndrome Histone-Lysine N-Methyltransferase Methylation medicine.disease Mice Inbred C57BL Developmental disorder 030104 developmental biology Endocrinology Neurology Histone methyltransferase Female Haploinsufficiency 030217 neurology & neurosurgery |
Zdroj: | Genes, Brain and Behavior. 19 |
ISSN: | 1601-183X 1601-1848 |
Popis: | 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. |
Databáze: | OpenAIRE |
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