In:
Developmental Dynamics, Wiley, Vol. 250, No. 2 ( 2021-02), p. 274-294
Abstract:
Sned1 is an essential gene, since its homozygous ablation leads to peri‐natal lethality. Sned1 knockout results in growth defects and craniofacial malformations. Sned1 is broadly expressed in embryos, notably in cells that undergo epithelial‐to‐mesenchymal transition: such as the somitic sclerotomes and neural‐crest cells. Targeted deletion of Sned1 from neural crest cells does not affect survival but results in growth defects and facial anomalies resembling malformations observed upon the global deletion of Sned1. In humans, SNED1 is located on the long arm of chromosome 2 (2q37.3). Deletion of 2q37 in patients has been associated with facial dysmorphism. We propose that SNED1 may contribute to the phenotype of these patients and that our novel mouse models may shed light on some of the mechanisms leading to this syndrome.
Type of Medium:
Online Resource
ISSN:
1058-8388
,
1097-0177
Language:
English
Publisher:
Wiley
Publication Date:
2021
detail.hit.zdb_id:
1473797-8
SSG:
12
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