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Down's syndrome-like skeletal abnormalities in Ets2 transgenic mice

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 (ref. 8)...

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Bibliographic Details
Published in:Nature (London) 1996-02, Vol.379 (6565), p.534-537
Main Authors: Heru Sumarsono, Sony, Wilson, Trevor J., Tymms, Martin J., Venter, Deon J., Corrick, Catherine M., Kola, Rihanna, Lahoud, Mireille H., Papas, Takis S., Seth, Arun, Kola, Ismail
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Language:English
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Summary: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 (ref. 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.
ISSN:0028-0836
1476-4687
DOI:10.1038/379534a0