SOX3

SOX3
Identifiers
Aliases	SOX3, GHDX, MRGH, PHP, PHPX, SOXB, SRY-box 3, SRY-box transcription factor 3
External IDs	OMIM: 313430; MGI: 98365; HomoloGene: 4118; GeneCards: SOX3; OMA:SOX3 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xq27.1 Start 140,502,985 bp[1] End 140,505,069 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A6|X 33.66 cM Start 59,934,972 bp[2] End 59,937,036 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence right uterine tube secondary oocyte hypothalamus amygdala anterior pituitary nucleus accumbens substantia nigra hippocampus proper prefrontal cortex Top expressed in somite suprachiasmatic nucleus medial ganglionic eminence primitive streak optic vesicle pretectal area optic nerve submandibular gland endocardial cushion atrium More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding transcription corepressor activity RNA polymerase II core promoter sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus nucleoplasm Biological process multicellular organism development sensory organ development central nervous system development face development pituitary gland development regulation of transcription, DNA-templated negative regulation of neuron differentiation transcription, DNA-templated hypothalamus development negative regulation of transcription by RNA polymerase II sex-determination system negative regulation of nucleic acid-templated transcription regulation of transcription by RNA polymerase II cell differentiation neuron differentiation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6658 20675 Ensembl ENSG00000134595 ENSMUSG00000045179 UniProt P41225 P53784 RefSeq (mRNA) NM_005634 NM_009237 RefSeq (protein) NP_005625 n/a Location (UCSC) Chr X: 140.5 – 140.51 Mb Chr X: 59.93 – 59.94 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

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.^[7]

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

• SOX gene family

References

Further reading

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.