Biology:NFIB (gene)
 Generic protein structure example |
Nuclear factor 1 B-type is a protein that in humans is encoded by the NFIB gene.[1][2]
NFIB haploinsufficiency is also associated with intellectual disability and macrocephaly, as are NFIA and NFIX.[3]
Embryonic Development
The NFIB gene is a part of the NFI gene complex that includes three other genes (NFIA, NFIC and NFIX).[4][5] The NFIB gene is a protein coding gene that also serves as a transcription factor.[6] 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.[4]
Through knockout experiments, researchers found that mice without the NFIB gene have severely underdeveloped lungs.[5][7] 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.[5] 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.[5] 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.[4][7]
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.
References
- ↑ "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. Dec 1995. doi:10.1006/geno.1995.1107. PMID 7590749.
- ↑ "Entrez Gene: NFIB nuclear factor I/B". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4781.
- ↑ Schanze, Ina; Bunt, Jens; Lim, Jonathan W.C.; Schanze, Denny; Dean, Ryan J.; Alders, Marielle; Blanchet, Patricia; Attié-Bitach, Tania 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. PMID 30388402.
- ↑ 4.0 4.1 4.2 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" (in en). 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.
- ↑ 5.0 5.1 5.2 5.3 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.
- ↑ Database, GeneCards Human Gene. "NFIB Gene - GeneCards | NFIB Protein | NFIB Antibody". https://www.genecards.org/cgi-bin/carddisp.pl?gene=NFIB.
- ↑ 7.0 7.1 Steele-Perkins, George; Plachez, Céline; Butz, Kenneth G.; Yang, Guanhu; Bachurski, Cindy J.; Kinsman, Stephen L.; Litwack, E. David; Richards, Linda J. et al. (2005-01-15). "The Transcription Factor Gene Nfib Is Essential for both Lung Maturation and Brain Development" (in en). Molecular and Cellular Biology 25 (2): 685–698. doi:10.1128/MCB.25.2.685-698.2005. ISSN 0270-7306. PMID 15632069.
- ↑ Schanze, I; Bunt, J; Lim, JWC; Schanze, D; Dean, RJ; Alders, M; Blanchet, P; Attié-Bitach, T et al. (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. PMID 30388402.
Further reading
- "NFI-B3, a novel transcriptional repressor of the nuclear factor I family, is generated by alternative RNA processing.". J. Biol. Chem. 272 (16): 10739–45. 1997. doi:10.1074/jbc.272.16.10739. PMID 9099724.
- Geurts JM; Schoenmakers EF; Röijer E et al. (1998). "Identification of NFIB as recurrent translocation partner gene of HMGIC in pleomorphic adenomas". Oncogene 16 (7): 865–72. doi:10.1038/sj.onc.1201609. PMID 9484777.
- Strausberg RL; Feingold EA; Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- Norquay LD; Yang X; Sheppard P et al. (2003). "RFX1 and NF-1 associate with P sequences of the human growth hormone locus in pituitary chromatin". Mol. Endocrinol. 17 (6): 1027–38. doi:10.1210/me.2003-0025. PMID 12624117.
- Sheeter D; Du P; Rought S et al. (2003). "Surface CD4 expression modulated by a cellular factor induced by HIV type 1 infection". AIDS Res. Hum. Retroviruses 19 (2): 117–23. doi:10.1089/088922203762688621. PMID 12639247.
- Ota T; Suzuki Y; Nishikawa T et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Gerhard DS; Wagner L; Feingold EA et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Rual JF; Venkatesan K; Hao T et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R.
- Kimura K; Wakamatsu A; Suzuki Y et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.
- "The C-terminal domain of the Nuclear Factor I-B2 isoform is glycosylated and transactivates the WAP gene in the JEG-3 cells". Biochem. Biophys. Res. Commun. 358 (3): 770–6. 2007. doi:10.1016/j.bbrc.2007.04.185. PMID 17511965.
External links
- NFIB+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
 |  |
