Linked Life Data

12571099

Source:http://linkedlifedata.com/resource/pubmed/id/12571099

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2003-2-6
pubmed:abstractText
The basic helix-loop-helix transcription factor dHAND is expressed in the mesenchyme of branchial arches and the developing heart. Mice homozygous for a dHAND (Hand2) null mutation die early in embryogenesis from cardiac abnormalities, precluding analysis of the potential role of dHAND in branchial arch development. Two independent enhancers control expression of dHAND in the heart and branchial arches. Endothelin-1 (ET-1) signaling regulates the branchial arch enhancer and is required for dHAND expression in the branchial arches. To determine the potential role of dHAND in branchial arch development and to assess the role of the ET-1-dependent enhancer in dHAND regulation in vivo, we deleted this enhancer by homologous recombination. Mice lacking the dHAND branchial arch enhancer died perinatally and exhibited a spectrum of craniofacial defects that included cleft palate, mandibular hypoplasia and cartilage malformations. Expression of dHAND was abolished in the ventolateral regions of the first and second branchial arches in these mutant mice, but expression was retained in a ventral domain where the related transcription factor eHAND is expressed. We conclude that dHAND plays an essential role in patterning and development of skeletal elements derived from the first and second branchial arches and that there are heterogeneous populations of cells in the branchial arches that rely on different cis-regulatory elements for activation of dHAND transcription.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0950-1991
pubmed:author
pubmed:issnType
Print
pubmed:volume
130
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1069-78
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Targeted deletion of a branchial arch-specific enhancer reveals a role of dHAND in craniofacial development.
pubmed:affiliation
Department of Molecular Biology, University of Texas Southwestern Medical Center at Dallas, TX 75390-9148, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't