Mutations of the TWIST gene in the Saethre-Chotzene syndrome

Ghouzzi, Vincent El; M, Le Merrer; Perrin-Schmitt, Fabienne; Lajeunie, E; Bénit, Paule; Rénier, Dominique; Bourgeois, P.; Al, Bolcato-Bellemin; Münnich, Arnold; Bonaventure, Jacky

doi:10.1038/ng0197-42

Cited by 618 publications

(456 citation statements)

References 25 publications

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“…Original magnifications: A, ϫ5; B, ϫ5; C, ϫ5; D, ϫ3.5; E, ϫ9; F ϫ9. craniosynostosis, has been related to mutation in several genes encoding FGFRs, TWIST, and also notably MSX homeoproteins (El Ghouzzi et al, 1997;Hollway et al, 1995;Howard et al, 1997;Jabs et al, 1993). Approximately 100 syndromes associated with craniosynostosis are known, and more than 50 have a genetic basis.…”

Section: Msx1 Expression In the Craniofacial Sutures And Skull Bonesmentioning

confidence: 99%

Postnatal Msx1 expression pattern in craniofacial, axial, and appendicular skeleton of transgenic mice from the first week until the second year

Orestes-Cardoso

Nefussi

Hotton

et al. 2001

Developmental Dynamics

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Phenotypes associated with Msx1 mutations have established the prominent role of this divergent homeogene in skeletal patterning. Previous studies have been achieved during antenatal development in relation with the early death of null mutant mice. Therefore, the present study is devoted to Msx1 homeogene in the postnatal craniofacial, axial, and appendicular skeleton. A knock-in transgenic mouse line was studied from the first postnatal week until 15 months. Whole-mount ␤-galactosidase enzymology identified Msx1 protein expression pattern. Maintained expression of Msx1 was observed in growing and adult mice, specifically in the sites where Msx1 plays an early morphogenetic role during initial skeletal patterning. These included the craniofacial sutures, autopodium, mandible, and alveolar bone. Furthermore, active membranous and endochondral bone formation involved Msx1 in the entire skeleton. Histologic sections showed that progenitor as well as differentiating and differentiated cells of all the bone cell lineages could express the Msx1 protein (chondrocytes, osteoblasts, tartrate-resistant acid phosphatase positive osteoclasts and chondroclasts). Recent developments in the genetic and developmental biology of skeletal morphogenesis demonstrate that genes critical for development are jointly expressed in discrete embryonic signalling and growth centers, the enamel knot in teeth, the cranial suture in skull morphogenesis, and the progress zone in the limb buds. The present study suggests that these signalling pathways are jointly important throughout the entire lifetime with an exquisite site-specificity spatially related to early patterning.

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Section: Msx1 Expression In the Craniofacial Sutures And Skull Bonesmentioning

confidence: 99%

Postnatal Msx1 expression pattern in craniofacial, axial, and appendicular skeleton of transgenic mice from the first week until the second year

Orestes-Cardoso

Nefussi

Hotton

et al. 2001

Developmental Dynamics

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“…[1][2][3] Mutational inactivation of the TWIST gene is suggested to be responsible for the SaethreChotzen syndrome, an autosomal dominant disorder, characterized by premature fusion of the cranial sutures, skull deformations, limb abnormalities and facial dysmorphisims. [4][5][6] Recently, TWIST has been suggested to play a positive role in the development and progression of human cancer. For example, over expression of TWIST is reported in human rhabdomyosarcoma, 7 gastric carcinoma, 8 melonoma, 9 breast cancer, [10][11][12][13] prostate cancer 14 and glioma.…”

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confidence: 99%

Anti‐apoptotic role of TWIST and its association with Akt pathway in mediating taxol resistance in nasopharyngeal carcinoma cells

Zhang

Wang

Ling

et al. 2007

Intl Journal of Cancer

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TWIST, a basic helix-loop-helix transcription factor, has been reported to be associated with development and progression of human cancer. Recently, over expression of TWIST is found in cancer patients with shorter survival and poor response to chemotherapy. Previously, we found that upregulation of TWIST was responsible for the development of acquired resistance to taxol in a nasopharyngeal carcinoma (NPC) cell line, HNE1-T3 (Wang et al., Oncogene, 2004;24:274). In this study, we investigated the underlying molecular mechanisms responsible for the TWIST-mediated taxol resistance. By comparison of the parental HNE1 and its derivative HNE1-T3 cell lines, we found that the resistance to taxol in HNE1-T3 cells was associated with suppression of taxol-induced apoptosis evidenced by decreased expression of Bak and Bax and increased Bcl-2, as well as inhibition of PARP and caspase cleavage and DNA ladder formation. However, there was no correlation between taxol sensitivity and alterations on G2/M cell cycle distribution, suggesting that the TWIST-induced taxol resistance is mediated through protection against apoptosis but not mitotic arrest. Analysis of additional 8 NPC cell lines showed that upregulation of TWIST was associated with resistance to microtubule disrupting agents, especially taxol, and inactivation of TWIST through small RNA interference led to increased sensitivity to taxol-induced cell death. Subsequent studies also demonstrated that the TWIST-mediated taxol resistance may be regulated through its positive involvement with the Akt pathway. Our findings suggest an underlying molecular mechanism responsible for the TWIST-mediated chemodrug resistance and suggest a target for overcoming taxol resistance in cancer cells. ' 2007 Wiley-Liss, Inc.

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“…8 Heterozygosity at TWIST resulting in haploinsufficiency has been shown to alter bone differentiation in human patients presenting with Saethre-Chotzen diagnosis. [9][10][11] In contrast, abnormal activation of TWIST has been implicated in several human cancers, as in gastric cancer 12 and nephroblastoma. 13 In addition, TWIST was shown to play a role in the formation of rhabdomyosarcoma by inhibiting apoptotis 14 and also by halting terminal differentiation of muscle cells 14 and mammary gland.…”

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confidence: 99%

Frequent genomic abnormalities at TWIST in human pediatric osteosarcomas

Entz‐Werlé

Stoetzel

Berard-Marec

et al. 2005

Intl Journal of Cancer

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The identification of genes as markers for chromosome aberrations in specific tumors might facilitate oncogenesis mechanism comprehension, cancer detection, prediction of clinical outcomes, and response to therapy. Previous physiologic and oncologic data identified the TWIST gene as a marker for mesodermal derivative and bone tissue differentiation, but its contribution to bone malignancies has not been investigated. In the present study, search for genomic alterations in high-grade pediatric osteosarcomas was focused on the 7p21 region, and more specifically on the TWIST gene. In a cohort of 74 patients, we observed by allelotyping that 31 of 68 informative tumors were rearranged at the TWIST locus. Among them, analysis by quantitative PCR (QPCR) revealed that, surprisingly, mostly deletions (22/68), but also amplifications (9/ 68), of the TWIST gene were detected. Furthermore, deletions at TWIST were statistically correlated to other molecular abnormalities, like alterations at the APC or c-kit loci, as well as to clinical features such as a poor outcome. This work shows that the TWIST gene seemed to be involved in high-grade pediatric osteosarcomas and is a new marker with a possible initial predictive value. ' 2005 Wiley-Liss, Inc.

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Mutations of the TWIST gene in the Saethre-Chotzene syndrome

Cited by 618 publications

References 25 publications

Postnatal Msx1 expression pattern in craniofacial, axial, and appendicular skeleton of transgenic mice from the first week until the second year

Postnatal Msx1 expression pattern in craniofacial, axial, and appendicular skeleton of transgenic mice from the first week until the second year

Anti‐apoptotic role of TWIST and its association with Akt pathway in mediating taxol resistance in nasopharyngeal carcinoma cells

Frequent genomic abnormalities at TWIST in human pediatric osteosarcomas

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