Transient early embryonic expression of Nkx2-5 mutations linked to congenital heart defects in human causes heart defects in Xenovus laevis

Heather L. Bartlett, Lillian Sutherland, Sandra J. Kolker, Chelsea Welp, Urszula Tajchman, Vera Desmarais, Daniel L. Weeks

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)2475-2484
Number of pages10
JournalDevelopmental Dynamics
Volume236
Issue number9
DOIs
StatePublished - Sep 2007

Keywords

  • Heart development
  • Nkx2-5
  • Xenopus

ASJC Scopus subject areas

  • Developmental Biology

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