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

Abstract:

:Expression of Ets2, a proto-oncogene and transcription factor, occurs in a variety of cell types. During murine development it is highly expressed in newly forming cartilage, including in the skull precursor cells and vertebral primordia. Ets2 is located on human chromosome 21 (ref. 8) and is overexpressed in Down's syndrome (trisomy 21). 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. 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.

journal_name

Nature

journal_title

Nature

authors

Sumarsono SH,Wilson TJ,Tymms MJ,Venter DJ,Corrick CM,Kola R,Lahoud MH,Papas TS,Seth A,Kola I

doi

10.1038/379534a0

subject

Has Abstract

pub_date

1996-02-08 00:00:00

pages

534-7

issue

6565

eissn

0028-0836

issn

1476-4687

journal_volume

379

pub_type

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