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
interaction between SOX10 and
PAX3 is studied best in human patients with
Waardenburg syndrome, an
autosomal 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, particularly
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 Myelin Protein Zero (MPZ) transcription through its interactions with proteins such as
OLIG1 and
EGR2,[16][17] which is important for the functionality of neurons. Other
cofactors have been identified, such as
SP1,
OCT6,
NMI,
FOXD3 and
SOX2.[18]
The interaction between SOX10 and NMI seems to be coexpressed in
glial 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.
^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.
Further reading
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.
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.
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
interaction between SOX10 and
PAX3 is studied best in human patients with
Waardenburg syndrome, an
autosomal 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, particularly
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 Myelin Protein Zero (MPZ) transcription through its interactions with proteins such as
OLIG1 and
EGR2,[16][17] which is important for the functionality of neurons. Other
cofactors have been identified, such as
SP1,
OCT6,
NMI,
FOXD3 and
SOX2.[18]
The interaction between SOX10 and NMI seems to be coexpressed in
glial 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.
^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.
Further reading
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.
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.