PMID- 10518556
OWN - NLM
STAT- MEDLINE
DCOM- 19991124
LR  - 20190501
IS  - 0027-8424 (Print)
IS  - 0027-8424 (Linking)
VI  - 96
IP  - 21
DP  - 1999 Oct 12
TI  - Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal
      lethality, hydrocephalus, and agenesis of the corpus callosum.
PG  - 11946-51
AB  - The phylogenetically conserved nuclear factor I (NFI) family of
      transcription/replication proteins is essential both for adenoviral DNA
      replication and for the transcription of many cellular genes. We showed
      previously that the four murine NFI genes (Nfia, Nfib, Nfic, and Nfix) are
      expressed in unique but overlapping patterns during mouse development and in
      adult tissues. Here we show that disruption of the Nfia gene causes perinatal
      lethality, with >95% of homozygous Nfia(-/-) animals dying within 2 weeks after
      birth. Newborn Nfia(-/-) animals lack a corpus callosum and show ventricular
      dilation indicating early hydrocephalus. Rare surviving homozygous Nfia(-/-) mice
      lack a corpus callosum, show severe communicating hydrocephalus, a full-axial
      tremor indicative of neurological defects, male-sterility, low female fertility, 
      but near normal life spans. These findings indicate that while the Nfia gene
      appears nonessential for cell viability and DNA replication in embryonic stem
      cells and fibroblasts, loss of Nfia function causes severe developmental defects.
      This finding of an NFI gene required for a developmental process suggests that
      the four NFI genes may have distinct roles in vertebrate development.
FAU - das Neves, L
AU  - das Neves L
AD  - Department of Cancer Biology, Lerner Research Institute, Cleveland Clinic
      Foundation, 9500 Euclid Avenue, Cleveland OH 44195, USA.
FAU - Duchala, C S
AU  - Duchala CS
FAU - Tolentino-Silva, F
AU  - Tolentino-Silva F
FAU - Haxhiu, M A
AU  - Haxhiu MA
FAU - Colmenares, C
AU  - Colmenares C
FAU - Macklin, W B
AU  - Macklin WB
FAU - Campbell, C E
AU  - Campbell CE
FAU - Butz, K G
AU  - Butz KG
FAU - Gronostajski, R M
AU  - Gronostajski RM
LA  - eng
GR  - HD-34908/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Proc Natl Acad Sci U S A
JT  - Proceedings of the National Academy of Sciences of the United States of America
JID - 7505876
RN  - 0 (CCAAT-Enhancer-Binding Proteins)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Glial Fibrillary Acidic Protein)
RN  - 0 (NFI Transcription Factors)
RN  - 0 (Nfia protein, mouse)
RN  - 0 (Nfic protein, mouse)
RN  - 0 (Nfix protein, mouse)
RN  - 0 (Nuclear Proteins)
RN  - 0 (Transcription Factors)
RN  - 0 (Y-Box-Binding Protein 1)
RN  - 0 (YBX1 protein, human)
SB  - IM
EIN - Proc Natl Acad Sci U S A 2001 Mar 27;98(7):4276. Godinho F [corrected to
      Tolentino-Silva F]
MH  - Animals
MH  - Brain/metabolism
MH  - *CCAAT-Enhancer-Binding Proteins
MH  - Corpus Callosum/*physiology
MH  - DNA-Binding Proteins/*genetics/*physiology
MH  - Female
MH  - Fertility/genetics
MH  - Fibroblasts/metabolism
MH  - Glial Fibrillary Acidic Protein/metabolism
MH  - Hydrocephalus/*genetics
MH  - Male
MH  - Mice
MH  - Mice, Inbred C57BL
MH  - Models, Genetic
MH  - Mutagenesis
MH  - NFI Transcription Factors
MH  - Nuclear Proteins
MH  - Phenotype
MH  - Recombination, Genetic
MH  - Stem Cells/metabolism
MH  - *Transcription Factors
MH  - Y-Box-Binding Protein 1
PMC - PMC18392
EDAT- 1999/10/16 00:00
MHDA- 1999/10/16 00:01
CRDT- 1999/10/16 00:00
PHST- 1999/10/16 00:00 [pubmed]
PHST- 1999/10/16 00:01 [medline]
PHST- 1999/10/16 00:00 [entrez]
AID - 10.1073/pnas.96.21.11946 [doi]
PST - ppublish
SO  - Proc Natl Acad Sci U S A. 1999 Oct 12;96(21):11946-51. doi:
      10.1073/pnas.96.21.11946.