SOX3

Last updated
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
Orthologs
SpeciesHumanMouse
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]

Contents

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

Related Research Articles

<span class="mw-page-title-main">Sex-determining region Y protein</span> Protein that initiates male sex determination in therian mammals

Sex-determining region Y protein (SRY), or testis-determining factor (TDF), is a DNA-binding protein encoded by the SRY gene that is responsible for the initiation of male sex determination in therian mammals. SRY is an intronless sex-determining gene on the Y chromosome. Mutations in this gene lead to a range of disorders of sex development with varying effects on an individual's phenotype and genotype.

SOX genes encode a family of transcription factors that bind to the minor groove in DNA, and belong to a super-family of genes characterized by a homologous sequence called the HMG-box. This HMG box is a DNA binding domain that is highly conserved throughout eukaryotic species. Homologues have been identified in insects, nematodes, amphibians, reptiles, birds and a range of mammals. However, HMG boxes can be very diverse in nature, with only a few amino acids being conserved between species.

<span class="mw-page-title-main">PAX6</span> Protein-coding gene in humans

Paired box protein Pax-6, also known as aniridia type II protein (AN2) or oculorhombin, is a protein that in humans is encoded by the PAX6 gene.

<span class="mw-page-title-main">Steroidogenic factor 1</span> Protein-coding gene in humans

The steroidogenic factor 1 (SF-1) protein is a transcription factor involved in sex determination by controlling the activity of genes related to the reproductive glands or gonads and adrenal glands. This protein is encoded by the NR5A1 gene, a member of the nuclear receptor subfamily, located on the long arm of chromosome 9 at position 33.3. It was originally identified as a regulator of genes encoding cytochrome P450 steroid hydroxylases, however, further roles in endocrine function have since been discovered.

<span class="mw-page-title-main">DAX1</span> Protein-coding gene in humans

DAX1 is a nuclear receptor protein that in humans is encoded by the NR0B1 gene. The NR0B1 gene is located on the short (p) arm of the X chromosome between bands Xp21.3 and Xp21.2, from base pair 30,082,120 to base pair 30,087,136.

<span class="mw-page-title-main">SOX2</span> Transcription factor gene of the SOX family

SRY -box 2, also known as SOX2, is a transcription factor that is essential for maintaining self-renewal, or pluripotency, of undifferentiated embryonic stem cells. Sox2 has a critical role in maintenance of embryonic and neural stem cells.

<span class="mw-page-title-main">SOX9</span> Transcription factor gene of the SOX family

Transcription factor SOX-9 is a protein that in humans is encoded by the SOX9 gene.

<span class="mw-page-title-main">SOX4</span> Protein-coding gene in the species Homo sapiens

Transcription factor SOX-4 is a protein that in humans is encoded by the SOX4 gene.

<span class="mw-page-title-main">SOX5</span> Protein-coding gene in Homo sapiens

Transcription factor SOX-5 is a protein that in humans is encoded by the SOX5 gene.

<span class="mw-page-title-main">Orthodenticle homeobox 2</span> Protein-coding gene in the species Homo sapiens

Homeobox protein OTX2 is a protein that in humans is encoded by the OTX2 gene.

<span class="mw-page-title-main">SOX13</span> Protein-coding gene in the species Homo sapiens

Transcription factor SOX-13 is a protein that in humans is encoded by the SOX13 gene.

<span class="mw-page-title-main">SOX18</span> Protein-coding gene in the species Homo sapiens

Transcription factor SOX-18 is a protein that in humans is encoded by the SOX18 gene.

<span class="mw-page-title-main">SOX11</span> Protein-coding gene in the species Homo sapiens

Transcription factor SOX-11 is a protein that in humans is encoded by the SOX11 gene.

<span class="mw-page-title-main">SOX8</span> Protein-coding gene in the species Homo sapiens

Transcription factor SOX-8 is a protein that in humans is encoded by the SOX8 gene.

<span class="mw-page-title-main">SOX15</span> Protein-coding gene in the species Homo sapiens

Protein SOX-15 is a protein that in humans is encoded by the SOX15 gene.

<span class="mw-page-title-main">SOX12</span> Protein-coding gene in the species Homo sapiens

SOX12 is a protein that in humans is encoded by the SOX12 gene. Sox12 belongs to the SoxC group of Sox family of transcription factors, together with Sox4 and Sox11. Sox12-null knockout mice appear normal, unlike Sox4 or Sox11 knockout mice. This probably comes from functional redundancy with Sox4 and Sox11. Sox12 is a weaker activator than both Sox4 and Sox11 in mouse.

<span class="mw-page-title-main">SOX14</span> Protein-coding gene in the species Homo sapiens

Transcription factor SOX-14 is a protein that in humans is encoded by the SOX14 gene.

<span class="mw-page-title-main">SOX21</span> Protein-coding gene in the species Homo sapiens

Transcription factor SOX-21 is a protein that in humans is encoded by the SOX21 gene. It is a member of the Sox gene family of transcription factors.

<span class="mw-page-title-main">SOX1</span> Transcription factor gene of the SOX family

SOX1 is a gene that encodes a transcription factor with a HMG-box DNA-binding domain and functions primarily in neurogenesis. SOX1, SOX2 and SOX3, members of the SOX gene family, contain transcription factors related to SRY, the testis-determining factor.

Peter Anthony Koopman is an Australian biologist best known for his role in the discovery and study of the mammalian Y-chromosomal sex-determining gene, Sry.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000134595 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000045179 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ↑ Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT (May 2005). "Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism". American Journal of Human Genetics. 76 (5): 833–49. doi:10.1086/430134. PMC   1199372 . PMID   15800844.
  6. 1 2 "Entrez Gene: SOX3 SRY (sex determining region Y)-box 3".
  7. 1 2 Bylund M, Andersson E, Novitch BG, Muhr J (November 2003). "Vertebrate neurogenesis is counteracted by Sox1-3 activity". Nature Neuroscience. 6 (11): 1162–8. doi:10.1038/nn1131. PMID   14517545. S2CID   19874781.
  8. ↑ 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.
  9. 1 2 Moalem S, Babul-Hirji R, Stavropolous DJ, Wherrett D, Bägli DJ, Thomas P, Chitayat D (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): 1759–64. doi:10.1002/ajmg.a.35390. PMID   22678921. S2CID   6220503.
  10. ↑ “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.
  11. ↑ Rizzoti K, Brunelli S, Carmignac D, Thomas PQ, Robinson IC, Lovell-Badge R (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.
  12. ↑ 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. Bibcode:1994PNAS...91.1927F. doi: 10.1073/pnas.91.5.1927 . PMC   43277 . PMID   8127908.

Further reading

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

This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.