The Transcription Factor Protein Sox11 Enhances Early Osteoblast Differentiation by Facilitating Proliferation and the Survival of Mesenchymal and Osteoblast Progenitors

Gadi, Jogeswar; Jung, Seung Hyun; Lee, Min Jung; Ajita, Jami; Ruthala, Kalyani; Kim, Kyoung Min; Cho, Nam Hoon; Jung, Han Sung; Kim, Cheol-Hee; Lim, Sung Kil

doi:10.1074/jbc.m112.413377

Cited by 53 publications

(59 citation statements)

References 32 publications

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“…The zebrafish genome contains two orthologs of human SOX11, sox11a and sox11b, which are expressed in all cells until gastrulation and later become restricted to the developing CNS 15,16 . We knocked down zebrafish sox11a and sox11b (both single-exon genes) using translation-blocking morpholino oligonucleotides (MOs) (sox11a-MO, sox11b-MO and sox11a/b-MO), as previously described 17 ( Supplementary Fig. 5a).…”

Section: Wes Of Css Patientsmentioning

confidence: 99%

De novo SOX11 mutations cause Coffin–Siris syndrome

et al. 2014

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Section: Wes Of Css Patientsmentioning

confidence: 99%

De novo SOX11 mutations cause Coffin–Siris syndrome

et al. 2014

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“…Among the 24 genes in the aberrant 2p region was the triplicated SOX11 , encoding a SoxC group high mobility group (HMG) box‐containing transcription factor. SOX11 has major roles in embryonic and adult neurogenesis, craniofacial osteogenesis, ocular morphogenesis, and cardiac development, all specifically disrupted in CHARGE [Hargrave et al, ; Sock et al, ; Jankowski et al, ; Potzner et al, ; Gadi et al, ; Wang et al, ; Paul et al, ; Pillai‐Kastoori et al, ]. Sanger sequencing and RQ‐PCR on our patient and on 28 patients with CHARGE phenotypes, negative chromosomal microarray, and negative CHD7 mutation testing showed no SOX11 mutations or duplications.…”

Section: Resultsmentioning

confidence: 70%

Duplication 2p25 in a child with clinical features of CHARGE syndrome

Sperry

Schuette

Ravenswaaij-Arts

et al. 2016

American J of Med Genetics Pt A

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CHARGE syndrome is a dominant disorder characterized by ocular colobomata, heart defects, choanal atresia, retardation of growth and development, genital hypoplasia, and ear abnormalities including deafness and vestibular disorders. The majority of individuals with CHARGE have pathogenic variants in the gene encoding CHD7, a chromatin remodeling protein. Here we present a 15-year-old girl with clinical features of CHARGE syndrome and a de novo 6.5 Mb gain of genomic material at 2p25.3-p25.2. The duplicated region contained 24 genes, including the early and broadly expressed transcription factor gene SOX11. Analysis of 28 other patients with CHARGE showed no SOX11 copy number changes or pathogenic sequence variants. To our knowledge, this child’s chromosomal abnormality is unique and represents the first co-occurrence of duplication 2p25 and clinical features of CHARGE syndrome. We compare our patient’s phenotype to ten previously published patients with isolated terminal duplication 2p, and elaborate on the clinical diagnosis of CHARGE in the context of atypical genetic findings.

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“…SOX4 overexpression was shown to promote cell cycle arrest and apoptosis of HCT116 colon carcinoma cells (47). Morpholino-targeted disruption of Sox11 in zebrafish also identified that Sox11 plays a crucial role in enhancing osteoblast differentiation by facilitating the proliferation of mesenchymal and osteoblast progenitor cells (45). BrdU incorporation assays have shown a significant reduction in cell proliferation in the neural tube, the branchial arches, and somites of Sox4/Sox11 double mutant mice (48).…”

Section: Discussionmentioning

confidence: 99%

Ablation of the Sox11 Gene Results in Clefting of the Secondary Palate Resembling the Pierre Robin Sequence

Huang

Xiao

Bao

et al. 2016

Journal of Biological Chemistry

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Mouse gene inactivation has shown that the transcription factor Sox11 is required for mouse palatogenesis. However, whether Sox11 is primarily involved in the regulation of palatogenesis still remains elusive. In this study, we explored the role of Sox11 in palatogenesis by analyzing the developmental mechanism in cleft palate formation in mutants deficient in Sox11. Sox11 is expressed both in the developing palatal shelf and in the surrounding structures, including the mandible. We found that cleft palate occurs only in the mutant in which Sox11 is directly deleted. As in the wild type, the palatal shelves in the Sox11 mutant undergo outgrowth in a downward direction and exhibit potential for fusion and elevation. However, mutant palatal shelves encounter clefting, which is associated with a malpositioned tongue that results in physical obstruction of palatal shelf elevation at embryonic day 14.5 (E14.5). We found that loss of Sox11 led to reduced cell proliferation in the developing mandibular mesenchyme via Cyclin D1, leading to mandibular hypoplasia, which blocks tongue descent. Extensive analyses of gene expression in Sox11 deficiency identified FGF9 as a potential candidate target of Sox11 in the modulation of cell proliferation both in the mandible and the palatal shelf between E12.5 and E13.5. Finally we show, using in vitro assays, that Sox11 directly regulates the expression of Fgf9 and that application of FGF9 protein to Sox11-deficient palatal shelves restores the rate of BrdU incorporation. Taken together, the palate defects presented in the Sox11 loss mutant mimic the clefting in the Pierre Robin sequence in humans.

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The Transcription Factor Protein Sox11 Enhances Early Osteoblast Differentiation by Facilitating Proliferation and the Survival of Mesenchymal and Osteoblast Progenitors

Cited by 53 publications

References 32 publications

De novo SOX11 mutations cause Coffin–Siris syndrome

De novo SOX11 mutations cause Coffin–Siris syndrome

Duplication 2p25 in a child with clinical features of CHARGE syndrome

Ablation of the Sox11 Gene Results in Clefting of the Secondary Palate Resembling the Pierre Robin Sequence

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