Biology:EGR2

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Early growth response protein 2 is a protein that in humans is encoded by the EGR2 gene. EGR2 (also termed Krox20) is a transcription regulatory factor, containing three zinc finger DNA-binding sites, and is highly expressed in a population of migrating neural crest cells.[1][2][3] It is later expressed in the neural crest derived cells of the cranial ganglion. The protein encoded by Krox20 contains two cys2his2-type zinc fingers. Krox20 gene expression is restricted to the early hindbrain development.[2][4] It is evolutionarily conserved in vertebrates, humans, mice, chicks, and zebra fish.[5] In addition, the amino acid sequence and most aspects of the embryonic gene pattern is conserved among vertebrates, further implicating its role in hindbrain development.[3][6][7][8] When the Krox20 is deleted in mice, the protein coding ability of the Krox20 gene (including the DNA-binding domain of the zinc finger) is diminished. These mice are unable to survive after birth and exhibit major hindbrain defects.[2][4] These defects include but are not limited to defects in formation of cranial sensory ganglia, partial fusion of the trigeminal nerve (V) with the facial (VII) and auditory (VII) nerves, the proximal nerve roots coming off of these ganglia were disorganized and intertwined among one another as they entered the brainstem, and there was fusion of the glossopharyngeal (IX) nerve complex.[9][10][11]

Function

The early growth response protein 2 is a transcription factor with three tandem C2H2-type zinc fingers. Mutations in this gene are associated with the autosomal dominant Charcot-Marie-Tooth disease, type 1D,[12] Dejerine–Sottas disease,[13] and Congenital Hypomyelinating Neuropathy.[14] Two studies have linked EGR2 expression to proliferation of osteoprogenitors [15] and cell lines derived from Ewing sarcoma, which is a highly aggressive bone-associated cancer.[16]

New research suggests that Krox20 - or the lack of it - is the reason for male baldness.[17]

References

  1. ↑ "Structure, chromosome location, and expression of the mouse zinc finger gene Krox-20: multiple gene products and coregulation with the proto-oncogene c-fos". Molecular and Cellular Biology 9 (2): 787–97. February 1989. doi:10.1128/mcb.9.2.787. PMID 2496302. 
  2. ↑ 2.0 2.1 2.2 "Perinatal lethality and defects in hindbrain development in mice homozygous for a targeted mutation of the zinc finger gene Krox20". Genes & Development 7 (11): 2071–84. November 1993. doi:10.1101/gad.7.11.2071. PMID 8224839. 
  3. ↑ 3.0 3.1 "Segment-specific expression of a zinc-finger gene in the developing nervous system of the mouse". Nature 337 (6206): 461–4. February 1989. doi:10.1038/337461a0. PMID 2915691. Bibcode: 1989Natur.337..461W. 
  4. ↑ 4.0 4.1 "The structure and expression of the Xenopus Krox-20 gene: conserved and divergent patterns of expression in rhombomeres and neural crest". Mechanisms of Development 40 (1–2): 73–84. January 1993. doi:10.1016/0925-4773(93)90089-g. PMID 8443108. 
  5. ↑ "Activation of the zinc finger encoding gene krox-20 in adult rat brain: comparison with zif268". Brain Research. Molecular Brain Research 13 (3): 263–6. April 1992. doi:10.1016/0169-328x(92)90034-9. PMID 1317498. 
  6. ↑ "Segmental expression of Hox-2 homoeobox-containing genes in the developing mouse hindbrain". Nature 341 (6241): 405–9. October 1989. doi:10.1038/341405a0. PMID 2571936. Bibcode: 1989Natur.341..405W. 
  7. ↑ "A distinct Hox code for the branchial region of the vertebrate head". Nature 353 (6347): 861–4. October 1991. doi:10.1038/353861a0. PMID 1682814. Bibcode: 1991Natur.353..861H. 
  8. ↑ "Cloning of the zebrafish krox-20 gene (krx-20) and its expression during hindbrain development". Nucleic Acids Research 21 (5): 1087–95. March 1993. doi:10.1093/nar/21.5.1087. PMID 8464695. 
  9. ↑ "Isolation of the mouse Hox-2.9 gene; analysis of embryonic expression suggests that positional information along the anterior-posterior axis is specified by mesoderm". Development 110 (2): 589–607. October 1990. doi:10.1242/dev.110.2.589. PMID 1983472. 
  10. ↑ "Segment-specific expression of a homoeobox-containing gene in the mouse hindbrain". Nature 341 (6238): 156–9. September 1989. doi:10.1038/341156a0. PMID 2571087. Bibcode: 1989Natur.341..156M. 
  11. ↑ "Conserved segmental expression of Krox-20 in the vertebrate hindbrain and its relationship to lineage restriction". Development Suppl 2: 59–62. 1991. doi:10.1242/dev.113.Supplement_2.59. PMID 1688180. 
  12. ↑ "Entrez Gene: EGR2 early growth response 2 (Krox-20 homolog, Drosophila)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1959. 
  13. ↑ "EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy". Neurogenetics 3 (3): 153–7. July 2001. doi:10.1007/s100480100107. PMID 11523566. 
  14. ↑ "Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies". Nature Genetics 18 (4): 382–4. April 1998. doi:10.1038/ng0498-382. PMID 9537424. 
  15. ↑ "Epidermal growth factor receptor (EGFR) signaling promotes proliferation and survival in osteoprogenitors by increasing early growth response 2 (EGR2) expression" (in en). The Journal of Biological Chemistry 288 (28): 20488–98. July 2013. doi:10.1074/jbc.M112.447250. PMID 23720781. 
  16. ↑ "Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite". Nature Genetics 47 (9): 1073–8. September 2015. doi:10.1038/ng.3363. PMID 26214589. 
  17. ↑ Le, Lu. "Scientists find skin cells at the root of balding, gray hair". http://www.utsouthwestern.edu/newsroom/news-releases/year-2017/may/gray-hair.html. 

Further reading

External links

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



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