Transcription factor SOX-3 is a protein that in humans is encoded by the SOX3 gene.[5][6] This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic brain development and in determination of cell fate. The encoded protein acts as a transcriptional activator.[7]
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]
- ^ 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.
- ^ Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, et al. (May 2005). "Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism". American Journal of Human Genetics. 76 (5): 833–849. doi:10.1086/430134. PMC 1199372. PMID 15800844.
- ^ a b "Entrez Gene: SOX3 SRY (sex determining region Y)-box 3".
- ^ Bylund M, Andersson E, Novitch BG, Muhr J (November 2003). "Vertebrate neurogenesis is counteracted by Sox1-3 activity". Nature Neuroscience. 6 (11): 1162–1168. doi:10.1038/nn1131. PMID 14517545. 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.
- ^ Moalem S, Babul-Hirji R, Stavropolous DJ, Wherrett D, Bägli DJ, Thomas P, et al. (July 2012). "XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication". American Journal of Medical Genetics. Part A. 158A (7): 1759–1764. doi:10.1002/ajmg.a.35390. PMID 22678921. 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.
- ^ Rizzoti K, Brunelli S, Carmignac D, Thomas PQ, Robinson IC, Lovell-Badge R (March 2004). "SOX3 is required during the formation of the hypothalamo-pituitary axis". Nature Genetics. 36 (3): 247–255. doi:10.1038/ng1309. PMID 14981518. S2CID 20696074.