Down's syndrome-like skeletal abnormalities in Ets2 transgenic mice.
Sumarsono, Sony Heru; Wilson, Trevor J.; Tymms, Martin J.; Venter, Deon J.; Corrick, Catherine M.; Kola, Rihanna; Lahoud, Mireille H.; Papas, Takis S.; Seth, Arun; Kola, Ismail
[Letter] Nature. 379(6565):534-537, February 8, 1996.

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EXPRESSION of Ets2, a proto-oncogene [1] and transcription factor [2-5], occurs in a variety of cell types [6]. During murine development it is highly expressed in newly forming cartilage, including in the skull precursor cells and vertebral primordia [7]. Ets2 is located on human chromosome 21 ( [8]) and is overexpressed in Down's syndrome (trisomy 21) [9]. Here we generate transgenic mice to investigate the consequences of overexpression of Ets2. We find that mice with less than 2-fold Ets2 overexpression in particular organs develop neurocranial, viscerocranial and cervical skeletal abnormalities. These abnormalities have similarities with the skeletal anomalies found in trisomy-16 mice and humans with Down's syndrome, in which the gene dosage of Ets2 is increased [10,12]. Our results indicate that Ets2 has a role in skeletal development and implicate the overexpression of Ets2 in the genesis of some skeletal abnormalities that occur in Down's syndrome.

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