Journal article
Transient Early Embryonic Expression of Nkx2-5 Mutations Linked to Congenital Heart Defects in Human Causes Heart Defects in Xenopus laevis
Developmental dynamics, Vol.236(9), pp.2475-2484
09/2007
DOI: 10.1002/dvdy.21244
PMCID: PMC2078326
PMID: 17685485
Abstract
Nkx2-5 is a homeobox containing transcription factor that is conserved and expressed in organisms that form hearts. Fruit flies lacking the gene (
tinman
) fail to form a dorsal vessel, mice that are homozygous null for Nkx2-5 form small, deformed hearts, and several human cardiac defects have been linked to dominant mutations in the Nkx2-5 gene. The
Xenopus
homologs (XNkx2-5) of two truncated forms of Nkx2-5 that have been identified in humans with congenital heart defects were used in the studies reported here. mRNAs encoding these mutations were injected into single cell
Xenopus
embryos, and heart development was monitored. Our results indicate that the introduction of truncated XNkx2-5 variants leads to three principle developmental defects. The atrial septum and the valve of the atrioventricular canal were both abnormal. In addition, video microscopic timing of heart contraction indicated that embryos injected with either mutant form of XNkx2-5 have conduction defects.
Details
- Title: Subtitle
- Transient Early Embryonic Expression of Nkx2-5 Mutations Linked to Congenital Heart Defects in Human Causes Heart Defects in Xenopus laevis
- Creators
- Heather L Bartlett - Department of Pediatrics, University of Iowa, Iowa City, IowaLillian Sutherland - Department of Biochemistry, Bowen Science Building, University of Iowa, Iowa City, IowaSandra J Kolker - Department of Biochemistry, Bowen Science Building, University of Iowa, Iowa City, IowaChelsea Welp - Department of Pediatrics, University of Iowa, Iowa City, IowaUrszula Tajchman - Department of Pediatrics, University of Iowa, Iowa City, IowaVera Desmarais - Department of Biochemistry, Bowen Science Building, University of Iowa, Iowa City, IowaDaniel L Weeks - Department of Biochemistry, Bowen Science Building, University of Iowa, Iowa City, Iowa
- Resource Type
- Journal article
- Publication Details
- Developmental dynamics, Vol.236(9), pp.2475-2484
- DOI
- 10.1002/dvdy.21244
- PMID
- 17685485
- PMCID
- PMC2078326
- ISSN
- 1058-8388
- eISSN
- 1097-0177
- Language
- English
- Date published
- 09/2007
- Academic Unit
- Stead Family Department of Pediatrics; Anesthesia; Biochemistry and Molecular Biology
- Record Identifier
- 9984025293602771
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