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 showinglentigo maligna, as an increased number of melanocytes alongstratum basale and nuclearpleumorphism. The changes are continuous with theresection 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.
Theinteraction between SOX10 andPAX3 is studied best in human patients withWaardenburg syndrome, anautosomal dominant disorder that is divided into four different types based upon mutations in additional genes. SOX10 and PAX3 interactions are thought to be regulators of other genes involved in the symptoms of Waardenburg syndrome, particularlyMITF, which influences the development ofmelanocytes as well asneural crest formation. MITF expression can betransactivated by both SOX10 and PAX3 to have an additive effect.[12][13] The two genes have binding sites near one another on the upstreamenhancer of thec-RET gene.[14] SOX10 is also thought to targetdopachrome tautomerase through a synergistic interaction with MITF, which then results in other melanocyte alteration.[15]
SOX10 can influence the generation ofMyelin Protein Zero (MPZ) transcription through its interactions with proteins such asOLIG1 andEGR2,[16][17] which is important for the functionality of neurons. Othercofactors have been identified, such asSP1,OCT6,NMI,FOXD3 andSOX2.[18]
The interaction between SOX10 and NMI seems to be coexpressed inglial cells,gliomas, and the spinal cord and has been shown to modulate the transcriptional activity of SOX10.[19]
^"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.
^Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Préhu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M (Feb 1998). "SOX10 mutations in patients with Waardenburg-Hirschsprung disease".Nature Genetics.18 (2):171–3.doi:10.1038/ng0298-171.PMID9462749.S2CID2327032.
^Das D, Kaur I, Ali MJ, Biswas NK, Das S, Kumar S, Honavar SG, Maitra A, Chakrabarti S, Majumder PP (Jul 2014). "Exome sequencing reveals the likely involvement of SOX10 in uveal melanoma".Optometry and Vision Science.91 (7): e185–92.doi:10.1097/OPX.0000000000000309.PMID24927141.S2CID24239911.
^Nat Pernick."Stains - SOX10".Pathology Outlines. Topic Completed: 1 February 2014. Revised: 20 September 2019
^Potterf SB, Furumura M, Dunn KJ, Arnheiter H, Pavan WJ (July 2000). "Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3".Hum. Genet.107 (1):1–6.doi:10.1007/s004390000328.PMID10982026.S2CID24931810.
^Schlierf B, Lang S, Kosian T, Werner T, Wegner M (November 2011). "The high-mobility group transcription factor Sox10 interacts with the N-myc-interacting protein Nmi".J. Mol. Biol.353 (5):1033–42.doi:10.1016/j.jmb.2005.09.013.PMID16214168.
Jacobs JM, Wilson J (1992). "An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome".Acta Neuropathol.83 (6):670–4.doi:10.1007/BF00299420.PMID1636383.S2CID35774306.
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.doi:10.1007/s004390050793.PMID9760192.S2CID20623767.
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.doi:10.1046/j.1432-1327.2000.01737.x.PMID11029584.
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.doi:10.1007/s00439-002-0765-8.PMID12189494.S2CID2292165.
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.doi:10.1016/jpsu.2003.50186.PMID12720173.
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.doi:10.1002/jcb.10656.PMID14523991.S2CID22751147.
