NFIB (gene)

Last updated
NFIB
Identifiers
Aliases NFIB , CTF, HMGIC/NF-I/B, NF1-B, NFI-B, NFI-RED, NFIB2, NFIB3, nuclear factor I B, MACID
External IDs OMIM: 600728 MGI: 103188 HomoloGene: 4087 GeneCards: NFIB
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001190737
NM_001190738
NM_001282787
NM_005596

NM_001113209
NM_001113210
NM_001286127
NM_001286131
NM_008687

Contents

RefSeq (protein)

NP_001106680
NP_001106681
NP_001273056
NP_001273060
NP_032713

Location (UCSC) Chr 9: 14.08 – 14.4 Mb Chr 4: 82.21 – 82.62 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Nuclear factor 1 B-type is a protein that in humans is encoded by the NFIB gene. [5] [6]

NFIB haploinsufficiency is also associated with intellectual disability and macrocephaly, as are NFIA and NFIX. [7]

Embryonic Development

The NFIB gene is a part of the NFI gene complex that includes three other genes (NFIA, NFIC and NFIX). [8] [9] The NFIB gene is a protein coding gene that also serves as a transcription factor. [10] This gene is essential in embryonic development and it works together with its gene complex to initiate tissue differentiation in the fetus. NFIB has the highest concentrations in the lung, skeletal muscle and heart but is also found in the areas of the developing liver, kidneys and brain. [8]

Through knockout experiments, researchers found that mice without the NFIB gene have severely underdeveloped lungs. [9] [11] This mutation does not seem to cause spontaneous abortions because in utero the fetus does not use its lungs for respiration. However, this becomes lethal once the fetus is born and has to take its first breath. It is thought that NFIB plays a role in down regulating the transcription factors TGF-β1 and Shh in normal gestation because they remained high in knockout experiments. [9] The absence of NFIB also leads to insufficient amounts of surfactant being produced which is one reason why the mice cannot breathe once it is born. [9] The knockout experiments demonstrated that NFIB has a significant role in fore-brain development. NFIB is typically found in pontine nuclei of the CNS, the cerebral cortex and the white matter of the brain and without NFIB these areas are dramatically affected. [8] [11]

Absence of one copy is associated with macrocephaly and intellectual disability. This associated was confirmed in mouse modelswhere deletion of one copy resulted in enlargement of the brain while preserving its overall organisation.

[12]

Related Research Articles

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<span class="mw-page-title-main">TFAP4</span> Protein-coding gene in the species Homo sapiens

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000147862 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000008575 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Qian F, Kruse U, Lichter P, Sippel AE (Dec 1995). "Chromosomal localization of the four genes (NFIA, B, C, and X) for the human transcription factor nuclear factor I by FISH". Genomics. 28 (1): 66–73. doi:10.1006/geno.1995.1107. PMID   7590749.
  6. "Entrez Gene: NFIB nuclear factor I/B".
  7. Schanze, Ina; Bunt, Jens; Lim, Jonathan W.C.; Schanze, Denny; Dean, Ryan J.; Alders, Marielle; Blanchet, Patricia; Attié-Bitach, Tania; Berland, Siren; Boogert, Steven; Boppudi, Sangamitra; Bridges, Caitlin J.; Cho, Megan T.; Dobyns, William B.; Donnai, Dian; Douglas, Jessica; Earl, Dawn L.; Edwards, Timothy J.; Faivre, Laurence; Fregeau, Brieana; Genevieve, David; Gérard, Marion; Gatinois, Vincent; Holder-Espinasse, Muriel; Huth, Samuel F.; Izumi, Kosuke; Kerr, Bronwyn; Lacaze, Elodie; Lakeman, Phillis; et al. (2018). "NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly". The American Journal of Human Genetics. 103 (5): 752–768. doi:10.1016/j.ajhg.2018.10.006. PMC   6218805 . PMID   30388402.
  8. 1 2 3 Chaudhry, Ali Z.; Lyons, Gary E.; Gronostajski, Richard M. (1997-03-01). "Expression patterns of the four nuclear factor I genes during mouse embryogenesis indicate a potential role in development". Developmental Dynamics. 208 (3): 313–325. doi: 10.1002/(sici)1097-0177(199703)208:3<313::aid-aja3>3.0.co;2-l . ISSN   1097-0177. PMID   9056636.
  9. 1 2 3 4 Gründer, Albert; Ebel, Thorsten T.; Mallo, Moisés; Schwarzkopf, Georg; Shimizu, Takehiko; Sippel, Albrecht E.; Schrewe, Heinrich (2002-03-01). "Nuclear factor I-B (Nfib) deficient mice have severe lung hypoplasia". Mechanisms of Development. 112 (1–2): 69–77. doi: 10.1016/S0925-4773(01)00640-2 . PMID   11850179. S2CID   10396584.
  10. Database, GeneCards Human Gene. "NFIB Gene - GeneCards | NFIB Protein | NFIB Antibody". www.genecards.org. Retrieved 2017-04-09.
  11. 1 2 Steele-Perkins, George; Plachez, Céline; Butz, Kenneth G.; Yang, Guanhu; Bachurski, Cindy J.; Kinsman, Stephen L.; Litwack, E. David; Richards, Linda J.; Gronostajski, Richard M. (2005-01-15). "The Transcription Factor Gene Nfib Is Essential for both Lung Maturation and Brain Development". Molecular and Cellular Biology. 25 (2): 685–698. doi:10.1128/MCB.25.2.685-698.2005. ISSN   0270-7306. PMC   543431 . PMID   15632069.
  12. Schanze, I; Bunt, J; Lim, JWC; Schanze, D; Dean, RJ; Alders, M; Blanchet, P; Attié-Bitach, T; Berland, S; Boogert, S; Boppudi, S; Bridges, CJ; Cho, MT; Dobyns, WB; Donnai, D; Douglas, J; Earl, DL; Edwards, TJ; Faivre, L; Fregeau, B; Genevieve, D; Gérard, M; Gatinois, V; Holder-Espinasse, M; Huth, SF; Izumi, K; Kerr, B; Lacaze, E; Lakeman, P; Mahida, S; Mirzaa, GM; Morgan, SM; Nowak, C; Peeters, H; Petit, F; Pilz, DT; Puechberty, J; Reinstein, E; Rivière, JB; Santani, AB; Schneider, A; Sherr, EH; Smith-Hicks, C; Wieland, I; Zackai, E; Zhao, X; Gronostajski, RM; Zenker, M; Richards, LJ (2018). "NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly". Am J Hum Genet. 103 (5): 752–768. doi: 10.1016/j.ajhg.2018.10.006 . PMC   6218805 . PMID   30388402.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.