Expression of forkhead box transcription factor genes Foxp1 and Foxp2 during jaw development

Cesario, Jeffry M.; Almaidhan, Asma; Jeong, Juhee

doi:10.1016/j.gep.2016.03.001

Cited by 24 publications

(24 citation statements)

References 44 publications

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“…Mutations in FOXP1 are associated with developmental delay, intellectual disability, speech defects, and mild craniofacial abnormalities (Horn, ; Le Fevre et al, ; Myers et al, ), including highly arched palate and hypertrophy of the alveolar ridges (Urreizti et al, ). In mouse, expression patterns of Foxp1 in the first pharyngeal arch during development suggest that it may regulate jaw development, although expression was absent from the palatal shelf (Cesario, Almaidhan, & Jeong, ). In addition, knockout mutants for Lhx6 and Lhx8 , which bind to and repress transcription of FOX genes, show up‐regulation of Foxp1 (as well as Foxp2 , Foxc1 , Foxd1 , and Foxd2 ) and have major craniofacial defects including cleft palate (Cesario et al, ).…”

Section: Discussionmentioning

confidence: 99%

Association of low‐frequency genetic variants in regulatory regions with nonsyndromic orofacial clefts

Shaffer

LeClair

Carlson

et al. 2018

American J of Med Genetics Pt A

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Genome-wide scans have shown that common risk alleles for orofacial clefts (OFC) tend to be located in noncoding regulatory elements and cumulatively explain only part of the heritability of OFCs. Low-frequency variants may account for some of the "missing" heritability. Therefore, we scanned low-frequency variants located within putative craniofacial enhancers to identify novel OFC risk variants and implicate new regulatory elements in OFC pathogenesis. Analyses were performed in a multiethnic sample of 1,995 cases of cleft lip with or without cleft palate (CL/P), 221 cases with cleft palate (CP) only, and 1,576 unaffected controls. One hundred and nineteen putative craniofacial enhancers identified from ChIP-Seq studies in craniofacial tissues or cell lines contained multiple low-frequency (0.01-1%) variants, which we genotyped in participants using a custom Illumina panel. Two complementary statistical approaches, sequence kernel association test and combined multivariate and collapsing, were used to test association of the aggregated low-frequency variants across each enhancer region with CL/P and CP. We

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Section: Discussionmentioning

confidence: 99%

Association of low‐frequency genetic variants in regulatory regions with nonsyndromic orofacial clefts

Shaffer

LeClair

Carlson

et al. 2018

American J of Med Genetics Pt A

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“…RNA in situ hybridization. The anti-sense probe for Scx has been described previously 31 . We labeled the probe with digoxigenin (DIG RNA labeling mix; Roche, Rotkreuz, Switzerland) and performed hybridization by following a standard protocol.…”

Section: Methods Experimental Animals All Experiments In Mice Were Pmentioning

confidence: 99%

Switching of Sox9 expression during musculoskeletal system development

Nagakura

Yamamoto

Jeong

et al. 2020

Sci Rep

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The musculoskeletal system, which comprises muscles, tendons, and bones, is an efficient tissue complex that coordinates body movement and maintains structural stability. The process of its construction into a single functional and complex organization is unclear. SRY-box containing gene 9 (Sox9) is expressed initially in pluripotent cells and subsequently in ectodermal, endodermal, and mesodermal derivatives. This study investigated how Sox9 controls the development of each component of the musculoskeletal system. Sox9 was expressed in MTJ, tendon, and bone progenitor cells at E13 and in bone at E16. We detected Sox9 expression in muscle progenitor cells using doubletransgenic mice and myoblastic cell lines. However, we found no Sox9 expression in developed muscle. A decrease in Sox9 expression in muscle-associated connective tissues, tendons, and bones led to hypoplasia of the cartilage and its attachment to tendons and muscle. These results showed that switching on Sox9 expression in each component (muscle, tendon, and bone) is essential for the development of the musculoskeletal system. Sox9 is expressed in not only tendon and bone progenitor cells but also muscle progenitor cells, and it controls musculoskeletal system development. The musculoskeletal system comprises muscles, tendons, and bones. It is an efficient tissue complex that coordinates body movement and maintains structural stability 1. This requires effective linkage of muscles to bones. Many studies have reported the development of each component of the musculoskeletal system, but the process of its construction into a single functional and complex organization is unclear. Muscles, tendons, and bones differ in their developmental origins 2-8 , yet they interact during differentiation. Chen and Galloway 8 reported that artificial rupture of the myotome impedes syndetome formation. In contrast, cranial tendon progenitor cells emerge without dependence on muscles, yet muscle presence is essential for their normal differentiation 8. Huang et al 9. analyzed tendon development in forearms and fingers and found that tendons can be divided into a distal module showing cartilage-dependent development and a proximal module showing muscle-dependent development. In addition, the mechanical stress of muscle contraction affects the morphology of cartilage and bone during development 10. Previously, we found that mutual contact between muscles and the tendon-like structure immediately promotes the development of bones 11 and that there is a morphological association between muscles and bones 12. In summary, studies need to focus on the analysis of muscles, tendons, and bones as a single functional organ 13 rather than focusing on each as an independent tissue component. SRY-box containing gene 9 (Sox9) is a transcription factor essential for musculoskeletal system development. Sox9 is expressed in all cartilage progenitor cells and cartilage cells except hypertrophic chondrocytes 14,15 , and it plays a key role in a series of processes involved in endochondral...

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“…3, Fig. S5) (Cesario et al, 2016), and m5, whose markers Shox2 and Lhx6 mapped to the posterior MxP-derived palatal shelves ( Fig. S5) (Beverdam et al, 2001;Cesario et al, 2016;Yu et al, 2005).…”

Section: Mesenchymal Cell Populations In and Around The Ljmentioning

confidence: 99%

The molecular anatomy of mammalian upper lip and primary palate fusion at single cell resolution

Jones

Hooper

et al. 2019

Development

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The mammalian lip and primary palate form when coordinated growth and morphogenesis bring the nasal and maxillary processes into contact, and the epithelia co-mingle, remodel and clear from the fusion site to allow mesenchyme continuity. Although several genes required for fusion have been identified, an integrated molecular and cellular description of the overall process is lacking. Here, we employ single cell RNA sequencing of the developing mouse face to identify ectodermal, mesenchymal and endothelial populations associated with patterning and fusion of the facial prominences. This analysis indicates that key cell populations at the fusion site exist within the periderm, basal epithelial cells and adjacent mesenchyme. We describe the expression profiles that make each population unique, and the signals that potentially integrate their behaviour. Overall, these data provide a comprehensive high-resolution description of the various cell populations participating in fusion of the lip and primary palate, as well as formation of the nasolacrimal groove, and they furnish a powerful resource for those investigating the molecular genetics of facial development and facial clefting that can be mined for crucial mechanistic information concerning this prevalent human birth defect.

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Expression of forkhead box transcription factor genes Foxp1 and Foxp2 during jaw development

Cited by 24 publications

References 44 publications

Association of low‐frequency genetic variants in regulatory regions with nonsyndromic orofacial clefts

Association of low‐frequency genetic variants in regulatory regions with nonsyndromic orofacial clefts

Switching of Sox9 expression during musculoskeletal system development

The molecular anatomy of mammalian upper lip and primary palate fusion at single cell resolution

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