SOX3
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| Location (UCSC) | Chr X: 140.5 – 140.51 Mb | Chr X: 59.93 – 59.94 Mb | |||||||
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Transcription factor SOX-3 is a
Mutations in this gene have been associated with X-linked hypopituitarism (XH) and X-linked mental retardation. Patients with XH are male, have short stature, exhibit a mild form of mental retardation and present pan-hypopituitarism.[6][8] A duplication of the SOX3 gene has also been discovered to cause XX male sex reversal.[9]
SRY-box transcription factor 3, SOX3, is a transcription factor that is encoded by the SOX3 gene. This gene is responsible for ensuring proper embryonic development and determining the fate of different cells. Regarding its developmental facet, SOX3, alongside other SOX transcription factors, ensures the proper formation of the hypothalamo-pituitary axis.[10] The proper development of the hypothalamo-pituitary axis is necessary as it serves to ensure proper systemic hormonal function. When SOX3 expression is affected, the development of different structures can be affected as well. Specifically, both the hypothalamus and the pituitary gland can suffer in accomplishing proper growth. Due to this, conditions such as hypopituitarism and mental retardation are found in cases with a lack of SOX3. Also, craniofacial abnormalities can be seen as a result of a lack of the SOX3 gene. To aid in the further understanding of the SOX3 gene, mice have been used as knockout models to study the effects of the gene’s absence.[11]
Function
SOX3 belongs to the family of
SOX3 contains a single exon and is found in a highly conserved region of the X chromosome. The SOX3 gene shares some conservation with the SRY gene, and encodes a protein that is similar, sharing 67% amino acid identity across the DNA-binding HMG domain.[12] This has led to the hypothesis that the SRY gene arose from SOX3 through a gain of function mutation within the proto-Y chromosome. Evidence to support this hypothesis arose from the discovery of a rare human case of XX sex reversal, that is thought to have occurred through a de novo duplication of the SOX3 gene.[9] Such a duplication is thought to result in a gain of function expression of SOX3 in the genital ridge of the developing embryo leading to XX male sex reversal.
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000134595 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000045179 – 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.
- PMID 15800844.
- ^ a b "Entrez Gene: SOX3 SRY (sex determining region Y)-box 3".
- ^ S2CID 19874781.
- ^ Barber, TM, Cheetham T, Ball SG (2004). "X-linked hypopituitarism: clinical and biochemical features of a rare cause of short stature". Endocrine Abstracts. 7 (1): 248.
- ^ S2CID 6220503.
- ^ “SOX3 SRY-Box Transcription Factor 3 [Homo Sapiens (Human)] - Gene - NCBI.” National Center for Biotechnology Information, U.S. National Library of Medicine, www.ncbi.nlm.nih.gov/gene/6658.
- S2CID 20696074.
- PMID 8127908.
Further reading
- Kamachi Y, Uchikawa M, Kondoh H (April 2000). "Pairing SOX off: with partners in the regulation of embryonic development". Trends in Genetics. 16 (4): 182–7. PMID 10729834.
- Bowles J, Schepers G, Koopman P (November 2000). "Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators". Developmental Biology. 227 (2): 239–55. PMID 11071752.
- Schepers GE, Teasdale RD, Koopman P (August 2002). "Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families". Developmental Cell. 3 (2): 167–70. PMID 12194848.
- Denny P, Swift S, Brand N, Dabhade N, Barton P, Ashworth A (June 1992). "A conserved family of genes related to the testis determining gene, SRY". Nucleic Acids Research. 20 (11): 2887. PMID 1614875.
- Stevanović M, Lovell-Badge R, Collignon J, Goodfellow PN (December 1993). "SOX3 is an X-linked gene related to SRY". Human Molecular Genetics. 2 (12): 2013–8. PMID 8111369.
- Collignon J, Sockanathan S, Hacker A, Cohen-Tannoudji M, Norris D, Rastan S, Stevanovic M, Goodfellow PN, Lovell-Badge R (February 1996). "A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2". Development. 122 (2): 509–20. PMID 8625802.
- Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C, Briault S (December 2002). "Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency". American Journal of Human Genetics. 71 (6): 1450–5. PMID 12428212.
- Aota S, Nakajima N, Sakamoto R, Watanabe S, Ibaraki N, Okazaki K (May 2003). "Pax6 autoregulation mediated by direct interaction of Pax6 protein with the head surface ectoderm-specific enhancer of the mouse Pax6 gene". Developmental Biology. 257 (1): 1–13. PMID 12710953.
- Weiss J, Meeks JJ, Hurley L, Raverot G, Frassetto A, Jameson JL (November 2003). "Sox3 is required for gonadal function, but not sex determination, in males and females". Molecular and Cellular Biology. 23 (22): 8084–91. PMID 14585968.
- Dattani MT (December 2003). "Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene". Journal of Pediatric Endocrinology & Metabolism. 16 (9): 1207–9. S2CID 45542882.
- Raverot G, Lejeune H, Kotlar T, Pugeat M, Jameson JL (August 2004). "X-linked sex-determining region Y box 3 (SOX3) gene mutations are uncommon in men with idiopathic oligoazoospermic infertility". The Journal of Clinical Endocrinology and Metabolism. 89 (8): 4146–8. S2CID 24592833.
- Solomon NM, Ross SA, Morgan T, Belsky JL, Hol FA, Karnes PS, Hopwood NJ, Myers SE, Tan AS, Warne GL, Forrest SM, Thomas PQ (September 2004). "Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3". Journal of Medical Genetics. 41 (9): 669–78. PMID 15342697.
- Savare J, Bonneaud N, Girard F (June 2005). "SUMO represses transcriptional activity of the Drosophila SoxNeuro and human Sox3 central nervous system-specific transcription factors". Molecular Biology of the Cell. 16 (6): 2660–9. PMID 15788563.
External links
- SOX3+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.