title: The transcription factor gene Nfib is essential for both lung maturation and brain development.
abstract: The phylogenetically conserved nuclear factor I (NFI) gene family encodes site-specific transcription factors essential for the development of a number of organ systems. We showed previously that Nfia-deficient mice exhibit agenesis of the corpus callosum and other forebrain defects, whereas Nfic-deficient mice have agenesis of molar tooth roots and severe incisor defects. Here we show that Nfib-deficient mice possess unique defects in lung maturation and exhibit callosal agenesis and forebrain defects that are similar to, but more severe than, those seen in Nfia-deficient animals. In addition, loss of Nfib results in defects in basilar pons formation and hippocampus development that are not seen in Nfia-deficient mice. Heterozygous Nfib-deficient animals also exhibit callosal agenesis and delayed lung maturation, indicating haploinsufficiency at the Nfib locus. The similarity in brain defects in Nfia- and Nfib-deficient animals suggests that these two genes may cooperate in late fetal forebrain development, while Nfib is essential for late fetal lung maturation and development of the pons.
authors.affiliation: State University of New York at Buffalo, Dept. of Biochemistry, 140 Farber Hall, 3435 Main St., Buffalo, NY 14214-3000, USA.
authors.forename: George
authors.initials: G
authors.lastname: Steele-Perkins
authors.forename: Céline
authors.initials: C
authors.lastname: Plachez
authors.forename: Kenneth G
authors.initials: KG
authors.lastname: Butz
authors.forename: Guanhu
authors.initials: G
authors.lastname: Yang
authors.forename: Cindy J
authors.initials: CJ
authors.lastname: Bachurski
authors.forename: Stephen L
authors.initials: SL
authors.lastname: Kinsman
authors.forename: E David
authors.initials: ED
authors.lastname: Litwack
authors.forename: Linda J
authors.initials: LJ
authors.lastname: Richards
authors.forename: Richard M
authors.initials: RM
authors.lastname: Gronostajski
mesh_terms: D061085:Agenesis of Corpus Callosum; D000818:Animals; D015415:Biomarkers; D001921:Brain / Q000002:abnormalities / Q000254:growth & development*; D002454:Cell Differentiation; D004622:Embryo, Mammalian / Q000033:anatomy & histology / Q000502:physiology; D005260:Female; D018390:Gene Targeting; D005865:Gestational Age; D006801:Humans; D008168:Lung / Q000002:abnormalities / Q000033:anatomy & histology / Q000254:growth & development*; D051379:Mice; D008810:Mice, Inbred C57BL; D051839:NFI Transcription Factors; D011247:Pregnancy; D011506:Proteins / Q000235:genetics / Q000378:metabolism*; D011993:Recombinant Fusion Proteins / Q000235:genetics / Q000378:metabolism
chemical_list: D015415:Biomarkers; D051839:NFI Transcription Factors; C484683:Nfib protein, mouse; D011506:Proteins; D011993:Recombinant Fusion Proteins