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

NFIB
Identifiers
AliasesNFIB, CTF, HMGIC/NF-I/B, NF1-B, NFI-B, NFI-RED, NFIB2, NFIB3, nuclear factor I B, MACID
External IDsOMIM: 600728; MGI: 103188; HomoloGene: 4087; GeneCards: NFIB; OMA:NFIB - orthologs
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

RefSeq (protein)

NP_001106680
NP_001106681
NP_001273056
NP_001273060
NP_032713

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

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

Embryonic development

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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 models where deletion of one copy resulted in enlargement of the brain while preserving its overall organisation.[12]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000147862Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000008575Ensembl, 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 (July 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 I, Bunt J, Lim JW, Schanze D, Dean RJ, Alders M, et al. (November 2018). "NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly". American Journal of Human Genetics. 103 (5): 752–768. doi:10.1016/j.ajhg.2018.10.006. PMC 6218805. PMID 30388402.
  8. ^ a b c Chaudhry AZ, Lyons GE, Gronostajski RM (March 1997). "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. PMID 9056636.
  9. ^ a b c d Gründer A, Ebel TT, Mallo M, Schwarzkopf G, Shimizu T, Sippel AE, et al. (March 2002). "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 GH. "NFIB Gene - GeneCards | NFIB Protein | NFIB Antibody". www.genecards.org. Retrieved 2017-04-09.
  11. ^ a b Steele-Perkins G, Plachez C, Butz KG, Yang G, Bachurski CJ, Kinsman SL, et al. (January 2005). "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. PMC 543431. PMID 15632069.
  12. ^ Schanze I, Bunt J, Lim JW, Schanze D, Dean RJ, Alders M, et al. (November 2018). "NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly". American Journal of Human Genetics. 103 (5): 752–768. doi:10.1016/j.ajhg.2018.10.006. PMC 6218805. PMID 30388402.

Further reading

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