SOX10


SOX10

SRY (sex determining region Y)-box 10, also known as SOX10, is a human gene.cite web | title = Entrez Gene: SOX10 SRY (sex determining region Y)-box 10| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6663| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a 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. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease.cite web | title = Entrez Gene: SOX10 SRY (sex determining region Y)-box 10| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6663| accessdate = ]

ee also

* SOX genes

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Jacobs JM, Wilson J |title=An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome. |journal=Acta Neuropathol. |volume=83 |issue= 6 |pages= 670–4 |year= 1992 |pmid= 1636383 |doi=
*cite journal | author=Southard-Smith EM, Kos L, Pavan WJ |title=Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. |journal=Nat. Genet. |volume=18 |issue= 1 |pages= 60–4 |year= 1998 |pmid= 9425902 |doi= 10.1038/ng0198-60
*cite journal | author=Pingault V, Bondurand N, Kuhlbrodt K, "et al." |title=SOX10 mutations in patients with Waardenburg-Hirschsprung disease. |journal=Nat. Genet. |volume=18 |issue= 2 |pages= 171–3 |year= 1998 |pmid= 9462749 |doi= 10.1038/ng0298-171
*cite journal | author=Kuhlbrodt K, Schmidt C, Sock E, "et al." |title=Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients. |journal=J. Biol. Chem. |volume=273 |issue= 36 |pages= 23033–8 |year= 1998 |pmid= 9722528 |doi=
*cite journal | author=Pusch C, Hustert E, Pfeifer D, "et al." |title=The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor. |journal=Hum. Genet. |volume=103 |issue= 2 |pages= 115–23 |year= 1998 |pmid= 9760192 |doi=
*cite journal | author=Bondurand N, Kuhlbrodt K, Pingault V, "et al." |title=A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. |journal=Hum. Mol. Genet. |volume=8 |issue= 9 |pages= 1785–9 |year= 2000 |pmid= 10441344 |doi=
*cite journal | author=Inoue K, Tanabe Y, Lupski JR |title=Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation. |journal=Ann. Neurol. |volume=46 |issue= 3 |pages= 313–8 |year= 1999 |pmid= 10482261 |doi=
*cite journal | author=Dunham I, Shimizu N, Roe BA, "et al." |title=The DNA sequence of human chromosome 22. |journal=Nature |volume=402 |issue= 6761 |pages= 489–95 |year= 1999 |pmid= 10591208 |doi= 10.1038/990031
*cite journal | author=Touraine RL, Attié-Bitach T, Manceau E, "et al." |title=Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. |journal=Am. J. Hum. Genet. |volume=66 |issue= 5 |pages= 1496–503 |year= 2000 |pmid= 10762540 |doi=
*cite journal | author=Bondurand N, Pingault V, Goerich DE, "et al." |title=Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. |journal=Hum. Mol. Genet. |volume=9 |issue= 13 |pages= 1907–17 |year= 2000 |pmid= 10942418 |doi=
*cite journal | author=Smit DJ, Smith AG, Parsons PG, "et al." |title=Domains of Brn-2 that mediate homodimerization and interaction with general and melanocytic transcription factors. |journal=Eur. J. Biochem. |volume=267 |issue= 21 |pages= 6413–22 |year= 2000 |pmid= 11029584 |doi=
*cite journal | author=Sham MH, Lui VC, Chen BL, "et al." |title=Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome. |journal=J. Med. Genet. |volume=38 |issue= 9 |pages= E30 |year= 2002 |pmid= 11546831 |doi=
*cite journal | author=Rehberg S, Lischka P, Glaser G, "et al." |title=Sox10 is an active nucleocytoplasmic shuttle protein, and shuttling is crucial for Sox10-mediated transactivation. |journal=Mol. Cell. Biol. |volume=22 |issue= 16 |pages= 5826–34 |year= 2002 |pmid= 12138193 |doi=
*cite journal | author=Pingault V, Girard M, Bondurand N, "et al." |title=SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. |journal=Hum. Genet. |volume=111 |issue= 2 |pages= 198–206 |year= 2002 |pmid= 12189494 |doi= 10.1007/s00439-002-0765-8
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Lang D, Epstein JA |title=Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer. |journal=Hum. Mol. Genet. |volume=12 |issue= 8 |pages= 937–45 |year= 2004 |pmid= 12668617 |doi=
*cite journal | author=Shimotake T, Tomiyama H, Aoi S, Iwai N |title=Discrepancy between macroscopic and microscopic transitional zones in Hirschsprung's disease with reference to the type of RET/GDNF/SOX10 gene mutation. |journal=J. Pediatr. Surg. |volume=38 |issue= 5 |pages= 698–701 |year= 2003 |pmid= 12720173 |doi= 10.1016/jpsu.2003.50186
*cite journal | author=Huber WE, Price ER, Widlund HR, "et al." |title=A tissue-restricted cAMP transcriptional response: SOX10 modulates alpha-melanocyte-stimulating hormone-triggered expression of microphthalmia-associated transcription factor in melanocytes. |journal=J. Biol. Chem. |volume=278 |issue= 46 |pages= 45224–30 |year= 2003 |pmid= 12944398 |doi= 10.1074/jbc.M309036200
*cite journal | author=Chan KK, Wong CK, Lui VC, "et al." |title=Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: Differential effects on target gene regulation. |journal=J. Cell. Biochem. |volume=90 |issue= 3 |pages= 573–85 |year= 2004 |pmid= 14523991 |doi= 10.1002/jcb.10656
*cite journal | author=Inoue K, Khajavi M, Ohyama T, "et al." |title=Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. |journal=Nat. Genet. |volume=36 |issue= 4 |pages= 361–9 |year= 2004 |pmid= 15004559 |doi= 10.1038/ng1322

External links

*

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