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Dev Dyn. September 1, 2007; 236 (9): 2475-84.

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

Bartlett HL , Sutherland L , Kolker SJ , Welp C , Tajchman U , Desmarais V , Weeks DL .

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.

PubMed ID: 17685485
PMC ID: PMC2078326
Article link: Dev Dyn.
Grant support: GM069944 NIGMS NIH HHS , HL062178 NHLBI NIH HHS , P50 HL062178-050003 NHLBI NIH HHS , R01 GM069944-01 NIGMS NIH HHS , R01 GM069944-02 NIGMS NIH HHS , R01 GM069944-03 NIGMS NIH HHS , R01 GM069944-04 NIGMS NIH HHS , P50 HL062178 NHLBI NIH HHS , R01 GM069944 NIGMS NIH HHS

Genes referenced: fbn2 nkx2-5 tnnt2

Antibodies referenced: Fbn2 Ab1 Tnnt2 Ab1

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Bartlett, 2004, Pubmed, Xenbase [+]

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