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Transcription factor gene of the SOX family
Transcription factor SOX-9 is a protein that in humans is encoded by the SOX9 gene. SOX-9 recognizes the sequence CCTTGAG along with other members of the
SOX9
Protein that initiates male sex determination in therian mammals
that causes upregulation of other transcription factors, most importantly SOX9. Its expression causes the development of primary sex cords, which later
Sex-determining region Y protein
Sex-determining_region_Y_protein
Gonad with features of both testicles and ovaries
tissue while the poles both contain ovarian tissue. Experiments involving the SOX9 gene, which is initiated by the SRY region of the Y chromosome, have shown
Ovotestis
Congenital condition where an individual with a 46,XX karyotype is male
example, it has been proposed that mutations in the SOX9 gene may contribute to this syndrome, as SOX9 plays a role in testes differentiation during development
XX_male_syndrome
Medical condition
nucleotide variants been identified involving the SOX9 gene that cause some form of CMD. The SOX9 gene codes for a protein transcription factor which
Campomelic_dysplasia
Any chromosome other than a sex chromosome
determination during development, functions by activating SOX9 and that the mutation on SOX9 causes the gene to be activated without the TDR transcription
Autosome
Sex of an organism which produces sperm
the sex-determining region of the Y-chromosome, the SRY. The SRY activates Sox9, which forms feedforward loops with FGF9 and PGD2 in the gonads, allowing
Male
Nucleic acid motif in molecular biology
mutation was described by Bohlen et al. (2017) in a Kozak-like region in the SOX9 gene that created a new translation initiation codon in an out-of-frame open
Kozak_consensus_sequence
Resilient and smooth elastic tissue present in animals
close to Hh-expressing ventral nerve cords and expresses ColA and SoxE, a Sox9 analog. This is also seen in gill cartilage tissue. In cephalopods, the models
Cartilage
Congenital disorder of the reproductive system
violation. SRY acts on gene SOX9 which drives Sertoli cell formation and testis differentiation. An absence in SRY causes SOX9 to not be expressed at the
Gonadal_dysgenesis
Method of determining sex
cases, the SOX9 gene, involved in the development of testes, can induce their development without the aid of SRY. In the absence of SRY and SOX9, no testes
XY_sex-determination_system
Bone or Cartilage forming cells
structure. Sox9, L-Sox5 and Sox6 are needed for the osteochondroprogenitor to undergo chondrocytic differentiation. The transcription factor Sox9 can be found
Osteochondroprogenitor_cell
Medical condition
(possibly at the SOX9 gene or the KCNJ2 gene) have all been implicated in PRS. Some evidence suggests that genetic dysregulation of the SOX9 gene (which encodes
Pierre_Robin_sequence
Organism that produces both male and female gametes
series of events starting with the upregulation of the transcription factor (SOX9), and in other areas not being active (causing the growth of ovarian tissues)
Hermaphrodite
Gonad containing both ovarian and testicular tissue
attributing specific cases of the condition to some form of duplication of the SOX9 gene; making this an incredibly rare cause. Ovotesticular syndrome occurs
Ovotesticular_syndrome
Internal organ in the male reproductive system
determination by downstream regulation of sex-determining factors (such as GATA4, SOX9 and AMH), which lead to development of the male phenotype, including directing
Testicle
Cancer of the colon or rectum
genes above, non-hypermutated samples also contain mutated CTNNB1, FAM123B, SOX9, ATM, and ARID1A. Progressing through a distinct set of genetic events, hypermutated
Colorectal_cancer
Biological system that determines the development of an organism's sex
are functional X chromosomes in XX females, duplication or expression of SOX9 causes testes to develop. Gradual sex reversal in developed mice can also
Sex-determination_system
Transcription factor
differentiation of pluripotent stem cells as well as the loss of DNA methylation. SOX9 recruits histone modification enzymes MLL3 and MLL4 to deposit H3K4me1 prior
Pioneer_factor
Amino acid
"Serine racemase suppresses chondrogenic differentiation in cartilage in a Sox9-dependent manner". Journal of Cellular Physiology. 215 (2): 320–328. doi:10
Serine
Bone structure of the thorax
Tripuraneni, N; Hegde, NV; Lieberman, JR; Crump, JG; Mariani, FV (2019). "Sox9+ messenger cells orchestrate large-scale skeletal regeneration in the mammalian
Rib_cage
Chemical compound
loop with Sox9, which is activated by the SRY of the Y chromosome. PGD2, in a different feedforward loop than FGF9, helps keep the level of SOX9 high enough
Prostaglandin_D2
Pluripotent embryonic cell group giving rise to diverse cell lineages
specifiers is a collection of genes including Slug/Snail, FoxD3, Sox10, Sox9, AP-2 and c-Myc. This suite of genes, designated here as neural crest specifiers
Neural_crest
Protein-coding gene in the species Homo sapiens
XY mice, there is less expression of SRY and a reduction in the amount of SOX9. Moreover, defects in vascularization are found. These occurrences result
R-spondin_1
Mammalian protein found in humans
AMHR2 gene on chromosome 12. In male embryos, AMH is switched on by the SOX9 gene in Sertoli cells of the developing testes. AMH acts to block the development
Anti-Müllerian_hormone
Biological process of cartilage development
of the L-Sox5, Sox6, Sox9 and Nkx3.2. Sox9 and Nkx3.2 induce each other in a positive feedback loop where Nkx3.2 inactivates a Sox9 inhibitor. This loop
Chondrogenesis
Depression in the temporal bone that articulates with the mandible
mandibular fossa develops from condylar cartilage. This may be stimulated by SOX9 or ALK2, as has been seen in mouse models. The condyloid process of the mandible
Mandibular_fossa
Protein that regulates the rate of DNA transcription
in Fluorescence Recovery After Photobleaching (FRAP) as an indicator of SOX9 transcription factor activity". Biochimica et Biophysica Acta (BBA) - Gene
Transcription_factor
Genetic disorder
Campomelic dysplasia, caused by monoallelic variants in and around the SOX9 gene, is less rare than Cousin syndrome. "OMIM Entry - # 260660 - COUSIN
Cousin_syndrome
Species of rodent
ISBN 978-0-8018-8221-0. OCLC 62265494. Bagheri-Fam, S; et al. (January 2012). "Sox9 gene regulation and the loss of the XY/XX sex-determining mechanism in the
Southern_mole_vole
Paired box transcription factor protein
important factor in the expression of neural crest markers such as Slug, Sox9, Sox10 and HNK-1. PAX7 is expressed in the palatal shelf of the maxilla,
PAX7
General cell type
These regulators of proliferation and differentiation include the protein Sox9, the Wnt and Notch signaling pathways, BMP's 2, 4, and 7 (which can all function
Basal_cell
Cell that composes cartilage
cells, the treatment showed increased expression of the transcription factor Sox9, which plays a key role in chondrogenesis, the process of cartilage formation
Chondrocyte
Process of development of sex differences in humans
from the abdomen. Many other genes found on other autosomes, including WT1, SOX9 and SF1 also play a role in gonadal development. Females: Without testosterone
Sexual differentiation in humans
Sexual_differentiation_in_humans
Protein and coding gene in humans
polymerization also regulates Sox9 expression via controlling transcriptional Sox9 activity. The expression and transcriptional activity of Sox9 is directly linked
Transforming_protein_RhoA
Mesenchymal progenitor cell that forms a chondrocyte
process is Sox9, a HMG box transcription factor, which marks progenitor cells for chondrogenic differentiation. Inactivation of the Sox9 gene will result
Chondroblast
Family of transcription factor protein complexes
S, Caradec J, Lubik AA, Li N, Truong S, et al. (April 2020). "Transient Sox9 Expression Facilitates Resistance to Androgen-Targeted Therapy in Prostate
NF-κB
Premature fusion of bones in the skull
genes in specific temporal order, leading to endochondral ossification. Sox9, Slug, Osteocalcin, growth factors and multiple Collagen type genes are upregulated
Craniosynostosis
Protein found in humans
less expression of SRY and downstream targets. Furthermore, the amount of SOX9 is reduced and defects in vascularization are found. These occurrences result
WNT4
Medical condition
restores normal development. MED12 is also a critical coactivator for the gene SOX9, which is involved in the developmental regulation of neurons, cartilage
Lujan–Fryns_syndrome
Lorance, D. K.; Barkley, C. L.; Lee, G. H.; Magness, S. T. (2009). "Distinct SOX9 levels differentially mark stem/progenitor populations and enteroendocrine
List of intestinal stem cell marker genes
List_of_intestinal_stem_cell_marker_genes
Protein-coding gene in humans
form a transcriptional complex with TDF to up-regulate transcription of the Sox9 gene. Its targets include genes at every level of the hypothalamic-pituitary-gonadal
Steroidogenic_factor_1
Protein-coding gene in the species Homo sapiens
heterodimerising partner of TCF21, a tumour suppressor gene and a target of SRY/SOX9 activity. GRCh38: Ensembl release 89: ENSG00000140262 – Ensembl, May 2017
TCF12
Medical conditions involving the development of the reproductive system
dysplasia – a condition caused by de novo autosomal dominant mutations in the SOX9 gene, causing bowing of the limbs, sex reversal in around two thirds of 46
Disorders_of_sex_development
Anterior part of the gastrointestinal tract
the morphogen sonic hedgehog, and transcription factors such as sox2 and sox9. Recent research has suggested that most foregut malformations are due to
Foregut
Developmental precursor to the gonads in an embryo
sexually indifferent gonad are SF1 and WT1. Genes that determine sex are SRY, SOX9, and DAX1. Genes driving the differentiation into male or female structures
Genital_ridge
Family of transcription factors
SOX14, SOX21 SoxC: SOX4, SOX11, SOX12 SoxD: SOX5, SOX6, SOX13 SoxE: SOX8, SOX9, SOX10 SoxF: SOX7, SOX17, SOX18 SoxG: SOX15 SoxH: SOX30 Body plan Evolutionary
SOX_gene_family
Marty-Double C, Bibeau F, Scherer G, Joubert D, Hollande F, Blache P, Jay P. Sox9 regulates cell proliferation and is required for Paneth cell differentiation
List of intestinal epithelial differentiation genes
List_of_intestinal_epithelial_differentiation_genes
NRAS generalized lymph vessel dysplasia: CCBE1 brachydactyly-anonychia: SOX9 genetic metabolic diseases Smith–Lemli–Opitz syndrome Congenital abnormality
Malformative_syndrome
ENSG00000005513 HMG/Sox Known motif – High-throughput in vitro [858] HATCAATTKCAGTGAT SOX9 ENSG00000125398 HMG/Sox Known motif – High-throughput in vitro [859] DDACAATRV
List of human transcription factors
List_of_human_transcription_factors
Protein-coding gene in Homo sapiens
Crombrugghe B (October 1998). "A new long form of Sox5 (L-Sox5), Sox6 and Sox9 are coexpressed in chondrogenesis and cooperatively activate the type II
SOX5
Wu M, Wang W, Gao H (May 2014). "Study of the effect of miR‑124 and the SOX9 target gene in Hirschsprung's disease". Mol Med Rep. 9 (5): 1839–43. doi:10
MIR124-3
Protein-coding gene in the species Homo sapiens
both females and males. Once activated by SOX9, it is responsible for forming a feedforward loop with Sox9, increasing the levels of both genes. It forms
FGF9
Protein-coding gene in the species Homo sapiens
gene transcription. MAF has been shown to interact with: CREBBP EP300 MYB SOX9. GRCh38: Ensembl release 89: ENSG00000178573 – Ensembl, May 2017 GRCm38:
MAF_(gene)
development. These include transcription factors (e.g., Scleraxis (Scx), Sox9) and signaling pathways (e.g., BMPs, Wnt, Fgf), which regulate tendon precursor
Tendon_cell
progenitors into neuroblasts by suppressing Sox9. A study in 2009 demonstrated that miR-124 directly silences Sox9 via a conserved binding site in its 3'UTR
Epigenetic regulation of neurogenesis
Epigenetic_regulation_of_neurogenesis
Gland that secretes serous fluid
branching morphogenesis Notch signaling - important for cell fate decisions SOX9 - transcription factor essential for acinar cell differentiation MIST1 (BHLHA15)
Serous_gland
Protein-coding gene in humans
gene promotes invasion and migration of lung cancer cells through ADCK5-SOX9-PTTG1 pathway". Experimental Cell Research. 392 (1) 112002. doi:10.1016/j
ADCK5
Species of rodent
ISBN 978-0-8018-8221-0. OCLC 62265494. AgroAtlas Bagheri-Fam, S; et al. (January 2012). "Sox9 gene regulation and the loss of the XY/XX sex-determining mechanism in the
Northern_mole_vole
G protein
subsequent induction of the pro-invasive transcription factors Snai2 (Slug), Sox9 or Twist. Further reading: Rho family of GTPases Aronheim A, Broder YC, Cohen
Chp_(GTPase)
Genus of rodents
ISBN 978-0-8018-8221-0. OCLC 62265494. Bagheri-Fam, S; et al. (January 2012). "Sox9 gene regulation and the loss of the XY/XX sex-determining mechanism in the
Ellobius
Sex-specific patterns of inheritance
Determining Factor (Tdf), and Tdf binds to and activates another gene called Sox9. Sox9 then codes a transcription factor that leads to the development of the
Sex_linkage
Cells found in human testes which help produce sperm
Poulat F (June 2009). "The PGD2 pathway, independently of FGF9, amplifies SOX9 activity in Sertoli cells during male sexual differentiation". Development
Sertoli_cell
dermal fibroblasts → polygonal hyaline chondrogenic cells (Klf4, c-Myc, Sox9) Mouse dermal fibroblasts → cardiomyocytes (Oct4, Sox2, Klf4, JI1 and Bmp4)
Examples of in vitro transdifferentiation by initial epigenetic activation phase approach
Examples_of_in_vitro_transdifferentiation_by_initial_epigenetic_activation_phase_approach
Protein
and migration of neural crest cells along with other genes (e.g. FOXD3, SOX9 and SOX10, BMPs) in embryonic life. Mutations in this gene may be associated
SNAI2
Protein-coding gene in the species Homo sapiens
2005). "Gonadal sex reversal in mutant Dax1 XY mice: a failure to upregulate Sox9 in pre-Sertoli cells". Development. 132 (13): 3045–54. doi:10.1242/dev.01890
SOX11
Protein-coding gene in the species Homo sapiens
the activity of the Wnt signaling pathway by suppressing the expression of SOX9 and β‐catenin. OSR1 expression is also significantly down-regulated at both
OSR1
Transcription factor gene of the FOX family
protein will prevent the formation of testes by suppressing expression of SOX9. In mice, FOXL2 is also expressed in pituitary cells where it is required
Forkhead_box_L2
Cell renewal process for injured tissue
peak, expression levels increase for a pair of metaplasia-associated genes, Sox9 and Cd44v. mTORC1 activity begins increasing as lysosome and autophagy activity
Paligenosis
Protein-coding gene in the species Homo sapiens
(Ad4BP/SF-1) regulates synergistic transcription between Ad4BP/SF-1 and Sox9". Mol. Endocrinol. 18 (10): 2451–62. doi:10.1210/me.2004-0173. PMID 15192080
SAE1
Protein-coding gene in the species Homo sapiens
Studies in male mice indicate that DP1 activation induces the translocation of SOX9 into the nucleus thereby signaling for the maturation of Sertoli cells and
Prostaglandin_DP1_receptor
Protein-coding gene in the species Homo sapiens
doi:10.1074/jbc.M310091200. PMID 14724283. Kou I, Ikegawa S (December 2004). "SOX9-dependent and -independent transcriptional regulation of human cartilage
HAPLN1
Protein-coding gene in the species Homo sapiens
"Pref-1 Regulates Mesenchymal Cell Commitment and Differentiation through Sox9". Cell Metabolism. 9 (3): 287–302. doi:10.1016/j.cmet.2009.01.013. PMC 2673480
DLK1
Protein-coding gene in the species Homo sapiens
C, Demaille J, Scherer G, Pfeifer D (2001). "Comparative genomics of the SOX9 region in human and Fugu rubripes: conservation of short regulatory sequence
SLC39A11
Protein-coding gene in humans
Cyclin-dependent kinase 8 Estrogen receptor alpha, Gli3, G9a, PPARGC1A, MED26, SOX9, and Thyroid hormone receptor alpha. GRCh38: Ensembl release 89: ENSG00000184634
MED12
Species of rodent
425–431. doi:10.3906/zoo-1401-73. Bagheri-Fam, S; et al. (January 2012). "Sox9 gene regulation and the loss of the XY/XX sex-determining mechanism in the
Transcaucasian_mole_vole
other genes involved in the specification of neural crest, including Pax6, Sox9 and Sox10, also been found to be regulated by the same postransl-tational
ZIC5
Theory of natural selection
A study published in 2017 targeted various candidate genes (FOXD3, RET, SOX9, SOX10, GDNF) with overlapping function in relation to schizophrenia, domestication
Evolution_of_schizophrenia
Experimental technique in cell biology
in Fluorescence Recovery After Photobleaching (FRAP) as an indicator of SOX9 transcription factor activity". Biochimica et Biophysica Acta (BBA) - Gene
Fluorescence recovery after photobleaching
Fluorescence_recovery_after_photobleaching
Protein-coding gene in the species Homo sapiens
V$EN1.01 Homeobox transcription factors 922 (+) 0.788 aaatggatTTCAaatggtg V$SOX9.03 SOX/SRY-sex/testis determining and related HMG box factors 1061 (+) 0
TMEM247
Protein-coding gene in the species Homo sapiens
1038/sj.cdd.4402018. PMID 16888644. Zhao LJ, Zhang S, Chinnadurai G (2002). "Sox9 transactivation and testicular expression of a novel human gene, KIAA0800"
VPRBP
Project to catalogue genetic mutations responsible for cancer
and associated with favorable prognosis; new potential drivers: ARlD1A, SOX9, FAM123B/WTX; overexpression of: ERBB2, IGF2; mutations in the WNT pathway
The_Cancer_Genome_Atlas
Protein-coding gene in the species Homo sapiens
[permanent dead link] Barrionuevo F, Scherer G (March 2010). "SOX E genes: SOX9 and SOX8 in mammalian testis development". The International Journal of Biochemistry
C16orf82
Diminished or absent ability of a female to achieve conception
mutation leads to defective expression of ENaC in the female reproductive tract SOX9 SRY-related HMB-box gene 9 STAG3 Stromal antigen 3 Premature ovarian failure
Female_infertility
Endogenous tag expressed in different cells along neurogenesis and differentiated cells
Frizzled-9; sFRP-2; GATA-2; SLAIN 1; GCNF/NR6A1; SOX1; GFAP; SOX2; Glut1; SOX9; HOXB1; SOX11; ID2; SOX21; Meteorin; SSEA-1; MSX1; TRAF-4; Musashi-1; Vimentin;
Neuronal_lineage_marker
Study of role of genetics in the nervous system
that help to determine neural fate and proper development include, RELN, SOX9, WNT, Notch and Delta coding genes, HOX, and various cadherin coding genes
Neurogenetics
Protein-coding gene in the species Homo sapiens
Crombrugghe B (October 1998). "A new long form of Sox5 (L-Sox5), Sox6 and Sox9 are coexpressed in chondrogenesis and cooperatively activate the type II
SOX6
Australian biologist (born 1959)
family of genes related to Sry – "Sox" genes. Among the first discoveries was Sox9, a key regulator of skeletal and testis development, which carries mutations
Peter_Koopman
Primary protein link between cadherins and the actin cytoskeleton
in endocrine cell differentiation which resulted in the accumulation of sox9+ progenitors. 28 α-catenin’s role in transcriptional modulation has been
Α-Catenin
NIH-supported American dentistry initiative
(gene), MMP3, MSX1, MSX2 (Msh homeobox 2), MSX3, PAX7, PDGFC, PTCH1, SATB2, SOX9, SUMO1 (Small ubiquitin-related modifier 1), TBX22, TCOF (Treacle protein)
FaceBase
Protein-coding gene in the species Homo sapiens
"Polarity Acquisition in Cortical Neurons Is Driven by Synergistic Action of Sox9-Regulated Wwp1 and Wwp2 E3 Ubiquitin Ligases and Intronic miR-140". Neuron
WWP2
Precursor microRNA family
Mc Dermott KW (February 2011). "Developmentally regulated expression of Sox9 and microRNAs 124, 128 and 23 in neuroepithelial stem cells in the developing
Mir-23 microRNA precursor family
Mir-23_microRNA_precursor_family
Region of a genome which regulates expression of genes related to cell identity
PMID 24413736. Liu CF, Lefebvre V (September 2015). "The transcription factors SOX9 and SOX5/SOX6 cooperate genome-wide through super-enhancers to drive chondrogenesis"
Super-enhancer
Type of stem cell
Ngn3 (neurogenin 3). This cell fate commitment is due to the expression of Sox9 (Sry-related HMB box transcription factor 9) and suppression of Notch signaling
Pancreatic_progenitor_cell
Slovak-American molecular biologist
1038/nature21408. PMC 6246920. PMID 28329758. Guo, Wenjun (2012). "Slug and Sox9 Cooperatively Determine the Mammary Stem Cell State". Cell. 148 (5). et al
Zuzana_Kečkéšová
American medical professor
Hung-Ming; Morrissey, Colm (2015). "NR2F1 controls tumour cell dormancy via SOX9- and RARβ-driven quiescence programmes". Nature Communications. 6 (1): 6170
Emily_Bernstein
ACAD9 deficiency; 611126; ACAD9 Acampomelic campomelic dysplasia; 114290; SOX9 Achalasia-Addisonianism-Alacrimia syndrome; 231550; AAAS Acheiropody; 200500;
List_of_OMIM_disorder_codes
Protein found in humans
Pace JM, Bridgewater LC (2005). "The new collagen gene COL27A1 contains SOX9-responsive enhancer elements". Matrix Biol. 24 (3): 177–84. doi:10.1016/j
Collagen,_type_XXVII,_alpha_1
"Pref-1 regulates mesenchymal cell commitment and differentiation through Sox9". Cell Metabolism. 9 (3): 287–302. doi:10.1016/j.cmet.2009.01.013. ISSN 1932-7420
Polar_overdominance
Protein found in humans
intestinal crypt stem cell region, limits Apcmin/+ tumors, and regulates Sox9". Endocrinology. 149 (1): 261–7. doi:10.1210/en.2007-0869. PMC 2194604. PMID 17916629
Insulin_receptor_substrate_1
SOX9
SOX9
SOX9
SOX9
Boy/Male
Hindu, Indian
Unbreakable
Boy/Male
Bengali, Gujarati, Hindu, Indian, Kannada, Malayalam, Marathi, Oriya, Sanskrit, Sindhi, Tamil, Telugu
King of Kings
Boy/Male
Hindu
Foamy
Boy/Male
Arabic
Servant of the Glorious One
Female
Hungarian
Hungarian form of Greek Aikaterine, KATALIN means "pure."
Girl/Female
Assamese, Bengali, Gujarati, Hindu, Indian, Kannada, Malayalam, Marathi, Sanskrit, Sindhi, Tamil, Telugu
River in Himalaya; Name of a Lake in Himalaya; Goddess Lakshmi; Conceived in the Mind; A River
Girl/Female
American, British, English
Youthful; Jove's Child; Variant of Gillian from the Masculine Julian
Boy/Male
Assamese, Bengali, Hindu, Indian, Kannada, Marathi, Telugu, Traditional
Moonrise
Boy/Male
Indian
Unshaken, Calm
Boy/Male
Bengali, Hindu, Indian, Kannada, Punjabi, Sikh, Telugu
Gift; Times; As in a Many Times
SOX9
SOX9
SOX9
SOX9
SOX9