Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene <i>Tbx3</i>

Colasanto, Mary P.; Eyal, Shai; Mohassel, Payam; Bamshad, Michael J.; Bönnemann, Carsten G.; Zelzer, Elazar; Moon, Anne; Kardon, Gabrielle

doi:10.1242/dev.147645

Cited by 11 publications

(25 citation statements)

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“…These localized muscle defects are correlated with Tbx3 expression in a subset of limb bones, tendons and muscle CT. Similar muscle defects are observed in patients with TBX3 mutations that are responsible of the Ulnar-mammary syndrome (Colasanto et al, 2016). In addition to being expressed in limb skeletal elements, Hoxa11 gene is also expressed in mouse muscle CT and Hoxa11 inactivation disrupts limb muscle and tendon patterning in addition to the already known skeleton defect (Swinehart et al, 2013).…”

Section: Muscle Developmentsupporting

confidence: 60%

“…It is noteworthy that in synovial fibroblasts, Cxcl12 is a target of Tbx5 in human synovial fibroblasts (Karouzakis et al, 2014). Recently, it has been shown that the conditional deletion of another T-box gene, Tbx3 , in the lateral plate mesoderm (using a Prx1-Cre transgene) leads to defects in myofiber formation in a subset of limb muscles in mice (Colasanto et al, 2016). These localized muscle defects are correlated with Tbx3 expression in a subset of limb bones, tendons and muscle CT.…”

Section: Muscle Developmentmentioning

confidence: 99%

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Non-myogenic Contribution to Muscle Development and Homeostasis: The Role of Connective Tissues

Nassari

Duprez

Fournier-Thibault

2017

Front. Cell Dev. Biol.

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Skeletal muscles belong to the musculoskeletal system, which is composed of bone, tendon, ligament and irregular connective tissue, and closely associated with motor nerves and blood vessels. The intrinsic molecular signals regulating myogenesis have been extensively investigated. However, muscle development, homeostasis and regeneration require interactions with surrounding tissues and the cellular and molecular aspects of this dialogue have not been completely elucidated. During development and adult life, myogenic cells are closely associated with the different types of connective tissue. Connective tissues are defined as specialized (bone and cartilage), dense regular (tendon and ligament) and dense irregular connective tissue. The role of connective tissue in muscle morphogenesis has been investigated, thanks to the identification of transcription factors that characterize the different types of connective tissues. Here, we review the development of the various connective tissues in the context of the musculoskeletal system and highlight their important role in delivering information necessary for correct muscle morphogenesis, from the early step of myoblast differentiation to the late stage of muscle maturation. Interactions between muscle and connective tissue are also critical in the adult during muscle regeneration, as impairment of the regenerative potential after injury or in neuromuscular diseases results in the progressive replacement of the muscle mass by fibrotic tissue. We conclude that bi-directional communication between muscle and connective tissue is critical for a correct assembly of the musculoskeletal system during development as well as to maintain its homeostasis in the adult.

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Section: Muscle Developmentsupporting

confidence: 60%

Section: Muscle Developmentmentioning

confidence: 99%

Non-myogenic Contribution to Muscle Development and Homeostasis: The Role of Connective Tissues

Nassari

Duprez

Fournier-Thibault

2017

Front. Cell Dev. Biol.

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“…We then annotated the likely cell type of each sub-cluster based on differential gene expression and enrichment analysis, as described below. SC3_B2 is likely to represent myotendinous junction site cells, as it has high levels of Tbx3, which is required for muscle attachment (Colasanto et al 2016), in addition to other muscle-related genes including Lsp1, Cygb, and Moxd1 (Singh et al 2014) (Fig 6E). Cells of SC3_B3 are likely to be tendon/ligament cells based on preferential expression of Tnmd and Scx (Sugimoto et al 2013;Soeda et al 2010) (Subramanian and Schilling 2015), as well as other tendon associated genes including Thbs4 (Havis et al 2014) (Subramanian and Schilling 2014), Htra1 (Oka et al 2004), Cilp (Caterson and Melrose 2018), Meox2 (Havis et al 2014), Abi3bp (Zhang et al 2014), and Fmod (Bi et al 2007).…”

Section: Development Of Articular Fibrous Componentsmentioning

confidence: 99%

A single cell transcriptional atlas of early synovial joint development

et al. 2020

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Synovial joint development begins with the formation of the interzone, a region of condensed mesenchymal cells at the site of the prospective joint. Recently, lineage-tracing strategies have revealed that Gdf5-lineage cells native to and from outside the interzone contribute to most, if not all, of the major joint components. However, there is limited knowledge of the specific transcriptional and signaling programs that regulate interzone formation and fate diversification of synovial joint constituents. To address this, we have performed single cell RNA-Seq analysis of 7329 synovial joint progenitor cells from the developing murine knee joint from E12.5 to E15.5. By using a combination of computational analytics, in situ hybridization and in vitro characterization of prospectively isolated populations, we have identified the transcriptional profiles of the major developmental paths for joint progenitors. Our freely available single cell transcriptional atlas will serve as a resource for the community to uncover transcriptional programs and cell interactions that regulate synovial joint development.

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“…However, skeletal patterning is independent of the presence of muscles and the basic layout of muscle pattern can be detected even in a skeletal-less limb (19,24). Early patterning of all the musculoskeletal tissues may therefore be guided by signals from the limb mesenchyme (32,33 The loss of Ezh2 in limb mesenchyme resulted in severe and complex effects on tendon development. Various extensor and flexor tendons were missing in mutant limbs and the existing tendons were drastically smaller that their WT counterparts, an effect seen most dramatically in the FDP tendons ( Fig 2B).…”

Section: Discussionmentioning

confidence: 99%

Enhancer of Zeste Homolog 2 (Ezh2) is essential for patterning of multiple musculoskeletal tissues but dispensable for tendon differentiation

Pal

Riester

Hasan

et al. 2020

Preprint

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An efficient musculoskeletal system depends on the precise assembly and coordinated growth and function of muscles, skeleton and tendons. However, the mechanisms that drive integrated musculoskeletal development and coordinated growth and differentiation of each of these tissues are still being uncovered. Epigenetic modifiers have emerged as critical regulators of cell fate differentiation, but so far almost nothing is known about their roles in tendon biology. Previous studies have shown that epigenetic modifications driven by Enhancer of zeste homolog 2 (EZH2), a major histone methyltransferase, have significant roles in vertebrate development including skeletal patterning and bone formation. We now find that targeting Ezh2 through the limb mesenchyme also has significant effects on tendon and muscle patterning, likely reflecting the essential roles of early mesenchymal cues mediated by Ezh2 for coordinated patterning and development of all tissues of the musculoskeletal system. Conversely, loss of Ezh2 in the tendon cells did not disrupt the tendon cell fate suggesting that tenocyte differentiation and tendon maturation are independent of Ezh2 signaling.

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Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3

Cited by 11 publications

References 1 publication

Non-myogenic Contribution to Muscle Development and Homeostasis: The Role of Connective Tissues

Non-myogenic Contribution to Muscle Development and Homeostasis: The Role of Connective Tissues

A single cell transcriptional atlas of early synovial joint development

Enhancer of Zeste Homolog 2 (Ezh2) is essential for patterning of multiple musculoskeletal tissues but dispensable for tendon differentiation

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