EGR2

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Template:Short description Template:Cs1 config An Error has occurred retrieving Wikidata item for infobox Early growth response protein 2 (EGR2), also known as Krox20, is a transcription factor encoded by the EGR2 gene in humans. It is highly expressed in migrating neural crest cells and later in neural crest-derived cells of the cranial ganglia.[1][2][3] Expression of EGR2 is restricted to early hindbrain development,[2][4] and the gene is evolutionarily conserved among vertebrates, including humans, mice, chicks, and zebrafish.[5] The conservation of its amino acid sequence and embryonic expression pattern underscores its essential role in hindbrain segmentation and neural differentiation.[3][6][7][8]

Structure

The EGR2 protein contains three tandem C2H2-type zinc finger domains that mediate specific DNA binding.[2][4] These zinc fingers enable EGR2 to function as a transcriptional regulator of genes involved in neural development and myelination.

Function

EGR2 acts as a transcription factor that regulates gene expression during neural development and peripheral nerve myelination. It binds to specific DNA sequences via its zinc finger motifs to control target genes essential for Schwann cell differentiation and myelin sheath formation.[9] It is also expressed in osteoprogenitor cells and has been implicated in the proliferation of Ewing sarcoma–derived cell lines, suggesting a role in both bone biology and tumorigenesis.[10][11]

Clinical significance

Mutations in EGR2 are associated with several hereditary demyelinating neuropathies, including Charcot–Marie–Tooth disease type 1D,[9] Dejerine–Sottas disease,[12] and congenital hypomyelinating neuropathy.[13] Recent studies have also suggested that EGR2 expression in hair follicle stem cells may influence hair maintenance and pigmentation, with loss of Krox20-expressing cells contributing to male-pattern baldness and graying hair.[14]

Deletion of Egr2 in mice results in loss of protein-coding capacity, including the DNA-binding domain, leading to perinatal lethality and severe hindbrain malformations.[2][4] These defects include aberrant formation of cranial sensory ganglia, fusion of the trigeminal (V), facial (VII), and auditory (VIII) nerves, and disorganization of their proximal roots as they enter the brainstem.[15][16][17]

References

  1. ^ Page Module:Citation/CS1/styles.css has no content.Chavrier P, Janssen-Timmen U, Mattéi MG, Zerial M, Bravo R, Charnay P (February 1989). "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. doi:10.1128/mcb.9.2.787. PMC 362656. PMID 2496302.
  2. ^ a b c d Page Module:Citation/CS1/styles.css has no content.Swiatek PJ, Gridley T (November 1993). "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. doi:10.1101/gad.7.11.2071. PMID 8224839.
  3. ^ a b Page Module:Citation/CS1/styles.css has no content.Wilkinson DG, Bhatt S, Chavrier P, Bravo R, Charnay P (February 1989). "Segment-specific expression of a zinc-finger gene in the developing nervous system of the mouse". Nature. 337 (6206): 461–4. Bibcode:1989Natur.337..461W. doi:10.1038/337461a0. PMID 2915691. S2CID 4336310.
  4. ^ a b c Page Module:Citation/CS1/styles.css has no content.Bradley LC, Snape A, Bhatt S, Wilkinson DG (January 1993). "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. doi:10.1016/0925-4773(93)90089-g. PMID 8443108. S2CID 20347966.
  5. ^ Page Module:Citation/CS1/styles.css has no content.Bhat RV, Worley PF, Cole AJ, Baraban JM (April 1992). "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. doi:10.1016/0169-328x(92)90034-9. PMID 1317498.
  6. ^ Page Module:Citation/CS1/styles.css has no content.Wilkinson DG, Bhatt S, Cook M, Boncinelli E, Krumlauf R (October 1989). "Segmental expression of Hox-2 homoeobox-containing genes in the developing mouse hindbrain". Nature. 341 (6241): 405–9. Bibcode:1989Natur.341..405W. doi:10.1038/341405a0. PMID 2571936. S2CID 4324322.
  7. ^ Page Module:Citation/CS1/styles.css has no content.Hunt P, Gulisano M, Cook M, Sham MH, Faiella A, Wilkinson D, et al. (October 1991). "A distinct Hox code for the branchial region of the vertebrate head". Nature. 353 (6347): 861–4. Bibcode:1991Natur.353..861H. doi:10.1038/353861a0. PMID 1682814. S2CID 4312466.
  8. ^ Page Module:Citation/CS1/styles.css has no content.Oxtoby E, Jowett T (March 1993). "Cloning of the zebrafish krox-20 gene (krx-20) and its expression during hindbrain development". Nucleic Acids Research. 21 (5): 1087–95. doi:10.1093/nar/21.5.1087. PMC 309267. PMID 8464695.
  9. ^ a b Page Module:Citation/CS1/styles.css has no content."Entrez Gene: EGR2 early growth response 2 (Krox-20 homolog, Drosophila)".
  10. ^ Page Module:Citation/CS1/styles.css has no content.Chandra A, Lan S, Zhu J, Siclari VA, Qin L (July 2013). "Epidermal growth factor receptor (EGFR) signaling promotes proliferation and survival in osteoprogenitors by increasing early growth response 2 (EGR2) expression". The Journal of Biological Chemistry. 288 (28): 20488–98. doi:10.1074/jbc.M112.447250. PMC 3711314. PMID 23720781.
  11. ^ Page Module:Citation/CS1/styles.css has no content.Grünewald TG, Bernard V, Gilardi-Hebenstreit P, Raynal V, Surdez D, Aynaud MM, et al. (September 2015). "Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite". Nature Genetics. 47 (9): 1073–8. doi:10.1038/ng.3363. PMC 4591073. PMID 26214589.
  12. ^ Page Module:Citation/CS1/styles.css has no content.Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR (July 2001). "EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy". Neurogenetics. 3 (3): 153–7. doi:10.1007/s100480100107. PMID 11523566. S2CID 32746701.
  13. ^ Page Module:Citation/CS1/styles.css has no content.Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, et al. (April 1998). "Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies". Nature Genetics. 18 (4): 382–4. doi:10.1038/ng0498-382. PMID 9537424. S2CID 25550479.
  14. ^ Page Module:Citation/CS1/styles.css has no content.Le L. "Scientists find skin cells at the root of balding, gray hair". UT Southwestern Medical Center. Archived from the original on 9 May 2017. Retrieved 9 May 2017.
  15. ^ Page Module:Citation/CS1/styles.css has no content.Frohman MA, Boyle M, Martin GR (October 1990). "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. doi:10.1242/dev.110.2.589. PMID 1983472.
  16. ^ Page Module:Citation/CS1/styles.css has no content.Murphy P, Davidson DR, Hill RE (September 1989). "Segment-specific expression of a homoeobox-containing gene in the mouse hindbrain". Nature. 341 (6238): 156–9. Bibcode:1989Natur.341..156M. doi:10.1038/341156a0. PMID 2571087. S2CID 4371764.
  17. ^ Page Module:Citation/CS1/styles.css has no content.Nieto MA, Bradley LC, Wilkinson DG (1991). "Conserved segmental expression of Krox-20 in the vertebrate hindbrain and its relationship to lineage restriction". Development. Suppl 2: 59–62. doi:10.1242/dev.113.Supplement_2.59. hdl:10261/32226. PMID 1688180.

Further reading

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

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