SOX10
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| Location (UCSC) | Chr 22: 37.97 – 37.99 Mb | Chr 15: 79.04 – 79.05 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Transcription factor SOX-10 is a protein that in humans is encoded by the SOX10 gene.[5][6][7][8]
Function
This gene encodes a member of the
transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development.[8]
In melanocytic cells, there is evidence that SOX10 gene expression may be regulated by MITF.[9]
Mutations
Mutations in this gene are associated with
Immunostain
SOX10 is used as an immunohistochemistry marker, being positive in:[11]
- Neuroectodermal neoplasms of neural crest origin, especially:
-
SOX10 immunohistochemistry in a dermal nevus, showing positively staining nevus cells (arrows) -
SOX10 immunohistochemistry of normal skin (top) and atypical melanocytic proliferation (bottom), seen mainly in hair follicles. -
SOX10 immunohistochemistry facilitates showing lentigo maligna, as an increased number of melanocytes along stratum basale and nuclear pleumorphism. The changes are continuous with the resection margin (inked in yellow, at left), conferring a diagnosis of a not radically removed lentigo maligna. -
Immunohistochemistry stain for SOX10 in a poorly differentiated metastatic melanoma to a lymph node, helping in its diagnosis.
Interactions
The
MITF, which influences the development of melanocytes as well as neural crest formation. MITF expression can be transactivated by both SOX10 and PAX3 to have an additive effect.[12][13] The two genes have binding sites near one another on the upstream enhancer of the c-RET gene.[14] SOX10 is also thought to target dopachrome tautomerase through a synergistic interaction with MITF, which then results in other melanocyte alteration.[15]
SOX10 can influence the generation of
The interaction between SOX10 and NMI seems to be coexpressed in
gliomas, and the spinal cord and has been shown to modulate the transcriptional activity of SOX10.[19]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000100146 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033006 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- S2CID 2327032.
- PMID 10441344.
- PMID 12944398.
- ^ a b c "Entrez Gene: SOX10 SRY (sex determining region Y)-box 10".
- PMID 19067971.
- S2CID 24239911.
- ^ Nat Pernick. "Stains - SOX10". Pathology Outlines. Topic Completed: 1 February 2014. Revised: 20 September 2019
- S2CID 24931810.
- PMID 10942418.
- PMID 12668617.
- S2CID 8245142.
- PMID 18160645.
- PMID 17325040.
- PMID 23644063.
- PMID 16214168.
Further reading
- Jacobs JM, Wilson J (1992). "An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome". Acta Neuropathol. 83 (6): 670–4. S2CID 35774306.
- Southard-Smith EM, Kos L, Pavan WJ (1998). "Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model". Nat. Genet. 18 (1): 60–4. S2CID 25574343.
- Kuhlbrodt K, Schmidt C, Sock E, Pingault V, Bondurand N, Goossens M, Wegner M (1998). "Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients". J. Biol. Chem. 273 (36): 23033–8. PMID 9722528.
- Pusch C, Hustert E, Pfeifer D, Südbeck P, Kist R, Roe B, Wang Z, Balling R, Blin N, Scherer G (1998). "The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor". Hum. Genet. 103 (2): 115–23. S2CID 20623767.
- Inoue K, Tanabe Y, Lupski JR (1999). "Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation". Ann. Neurol. 46 (3): 313–8. S2CID 32618827.
- Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. PMID 10591208.
- Touraine RL, Attié-Bitach T, Manceau E, Korsch E, Sarda P, Pingault V, Encha-Razavi F, Pelet A, Augé J, Nivelon-Chevallier A, Holschneider AM, Munnes M, Doerfler W, Goossens M, Munnich A, Vekemans M, Lyonnet S (2000). "Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain". Am. J. Hum. Genet. 66 (5): 1496–503. PMID 10762540.
- Bondurand N, Pingault V, Goerich DE, Lemort N, Sock E, Le Caignec C, Wegner M, Goossens M (2000). "Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome". Hum. Mol. Genet. 9 (13): 1907–17. PMID 10942418.
- Smit DJ, Smith AG, Parsons PG, Muscat GE, Sturm RA (2000). "Domains of Brn-2 that mediate homodimerization and interaction with general and melanocytic transcription factors". Eur. J. Biochem. 267 (21): 6413–22. PMID 11029584.
- Sham MH, Lui VC, Chen BL, Fu M, Tam PK (2001). "Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome". J. Med. Genet. 38 (9): 30e–30. PMID 11546831.
- Rehberg S, Lischka P, Glaser G, Stamminger T, Wegner M, Rosorius O (2002). "Sox10 is an active nucleocytoplasmic shuttle protein, and shuttling is crucial for Sox10-mediated transactivation". Mol. Cell. Biol. 22 (16): 5826–34. PMID 12138193.
- Pingault V, Girard M, Bondurand N, Dorkins H, Van Maldergem L, Mowat D, Shimotake T, Verma I, Baumann C, Goossens M (2002). "SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism". Hum. Genet. 111 (2): 198–206. S2CID 2292165.
- Lang D, Epstein JA (2003). "Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer". Hum. Mol. Genet. 12 (8): 937–45. PMID 12668617.
- Shimotake T, Tomiyama H, Aoi S, Iwai N (2003). "Discrepancy between macroscopic and microscopic transitional zones in Hirschsprung's disease with reference to the type of RET/GDNF/SOX10 gene mutation". J. Pediatr. Surg. 38 (5): 698–701. PMID 12720173.
- Chan KK, Wong CK, Lui VC, Tam PK, Sham MH (2003). "Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: Differential effects on target gene regulation". J. Cell. Biochem. 90 (3): 573–85. S2CID 22751147.
- Inoue K, Khajavi M, Ohyama T, Hirabayashi S, Wilson J, Reggin JD, Mancias P, Butler IJ, Wilkinson MF, Wegner M, Lupski JR (2004). "Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations". Nat. Genet. 36 (4): 361–9. PMID 15004559.
External links
- SOX10+protein,+human at the U.S. 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.