BACKGROUND Mutations of the transcription factor Nkx2-5 cause pleiotropic heart defects with incomplete penetrance. This variability suggests that additional factors can affect or prevent the mutant phenotype. We assess here the role of genetic modifiers and their interactions. METHODS AND RESULTS Heterozygous Nkx2-5 knockout mice in the inbred strain background C57Bl/6 frequently have atrial...

Abstract Differential transcription of identical DNA sequences leads to distinct tissue lineages and then multiple cell types within a lineage, an epigenetic process central progenitor stem biology. The associated genome-wide changes, especially in native tissues, remain insufficiently understood, are hereby addressed the mouse lung, where same lineage factor NKX2-1 promotes diametrically oppos...

The present study makes an investigation into expression of genes related to cardiac development in chicken, quail and chicken-quail hybrids during the early stage of embryogenesis. Real-time PCR was used to detect mRNA expressions of Nkx2-5, GATA4 and TBX5 in the heart of chicken, quail and chicken-quail hybrids embryos during the 3rd to 7th days of incubation. Results showed that NKX2-5 mRNA ...

NK-2 class homeobox genes are candidate patterning and lineage regulators in diverse organisms. We report here the embryonic expression pattern of murine member, Nkx2-6. In keeping with its vertebrate relatives, Nkx2-6 was transcribed in ventrolateral embryonic structures. Expression was first detected at E8.0 in endodermal walls of the foregut pocket, tissue destined to become pharyngeal floor...

We show that most globus pallidus neurons, but very few neocortical interneurons, are generated from the ventral medial ganglionic eminence and dorsal preoptic area based on fate mapping using an Shh-Cre allele. The Shh-expressing subpallial lineage produces parvalbumin(+) GABAergic neurons, ChAT(+) cholinergic neurons, and oligodendrocytes. Loss of Nkx2-1 function from the Shh-expressing domai...

Benign hereditary chorea (BHC) was originally described in 1967, but it was not until 2002 that linkage analysis and positional cloning identified the causative gene, NKX2-1 (also known as TTF-1).(1,2) The range of manifestations spans from isolated chorea, pulmonary disease, or thyroid dysfunction, with one-third of patients having the full brain-lung-thyroid syndrome.(3) Recent reports have e...

OBJECTIVE To determine the contribution of ADCY5 mutations in cases with genetically undefined benign hereditary chorea (BHC). METHODS We studied 18 unrelated cases with BHC (7 familial, 11 sporadic) who were negative for NKX2-1 mutations. The diagnosis of BHC was based on the presence of a childhood-onset movement disorder, predominantly characterized by chorea and no other major neurologic ...