Biology:SOX3

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Transcription factor SOX-3 is a protein that in humans is encoded by the SOX3 gene.[1][2] 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.[3]

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.[2][4] A duplication of the SOX3 gene has also been discovered to cause XX male sex reversal.[5]

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.[6] 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.[7]

Function

SOX3 belongs to the family of SRY-related HMG-box containing genes which behave as transcription factors. SOX3 has been found to be involved in the regulation of embryonic brain development, the determination of cell fate and in XX male sex reversal.[3]

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.[8] 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.[5] 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

  1. ↑ "Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism". American Journal of Human Genetics 76 (5): 833–49. May 2005. doi:10.1086/430134. PMID 15800844. 
  2. ↑ 2.0 2.1 "Entrez Gene: SOX3 SRY (sex determining region Y)-box 3". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6658. 
  3. ↑ 3.0 3.1 "Vertebrate neurogenesis is counteracted by Sox1-3 activity". Nature Neuroscience 6 (11): 1162–8. November 2003. doi:10.1038/nn1131. PMID 14517545. 
  4. ↑ "X-linked hypopituitarism: clinical and biochemical features of a rare cause of short stature". Endocrine Abstracts 7 (1): 248. 2004. http://www.endocrine-abstracts.org/ea/0007/ea0007p248.htm. 
  5. ↑ 5.0 5.1 "XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication". American Journal of Medical Genetics. Part A 158A (7): 1759–64. July 2012. doi:10.1002/ajmg.a.35390. PMID 22678921. 
  6. ↑ “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.
  7. ↑ Rizzoti, Karine; Brunelli, Silvia; Carmignac, Danielle; Thomas, Paul Q; Robinson, Iain C; Lovell-Badge, Robin (2004). "SOX3 is required during the formation of the hypothalamo-pituitary axis". Nature Genetics 36 (3): 247–255. doi:10.1038/ng1309. PMID 14981518. 
  8. ↑ Foster, JW; Graves, JA (1 March 1994). "An SRY-related sequence on the marsupial X chromosome: implications for the evolution of the mammalian testis-determining gene.". Proceedings of the National Academy of Sciences of the United States of America 91 (5): 1927–31. doi:10.1073/pnas.91.5.1927. PMID 8127908. Bibcode: 1994PNAS...91.1927F. 

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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