Diversity in cranial muscles: Origins and developmental programs

Grimaldi, Alexandre; Tajbakhsh, Shahragim

doi:10.1016/j.ceb.2021.06.005

Cited by 18 publications

(20 citation statements)

References 42 publications

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“…In line with the fetal skeletal myocyte gene expression of MYL4 , ACTC1 and TNNT2 (Figure S5A) (Anderson et al, 1991; Vandekerckhove et al, 1986; Whalen et al, 1978), we could identify different transcriptional stages of skeletal myogenic differentiation within this population (Figure 5SB): myocyte precursors ( PAX7 ), myoblasts/myocytes ( MYOD1 , MYOG ), and myotubes ( MYL2 , MYH2 , MYH7 , ITBG1 ) (Choi et al, 2020). Interestingly, when identifying upstream genetic regulators that control cranial myogenesis, we observed TBX1 and PITX2 gene expression, with a relative absence of PAX3 (Figure S5C), limiting the possible identity of these skeletal myocytes to that of cranial skeletal myocytes, as reviewed in (Grimaldi and Tajbakhsh, 2021). Moreover, moderate expression of NKX2-5 could be seen in this cluster (data not shown).…”

Section: Resultsmentioning

confidence: 93%

A Single-Cell Level Comparison of Human Inner Ear Organoids and the Human Cochlea and Vestibular Organs

Valk

Beelen

Steinhart

et al. 2022

Preprint

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Genetic inner ear disorders are among the most common congenital abnormalities and lead to hearing loss and balance disorders. Ideally, tissue culture models of the inner ear should contain a functional unit combining otic sensory and nonsensory cell types to recapitulate the varied etiologies of inner ear disorders. Here, we evaluated cell type diversity of late-stage human pluripotent stem cell-derived inner ear organoids using single-cell transcriptomic analysis, electron microscopy and immunohistochemistry. We observed the induction of on-target inner ear-related periotic mesenchymal cells alongside off-target induction of skeletal myocytes, endothelial cells, and ependymal cells. By constructing a single-cell transcriptomic atlas of the human fetal and adult inner ear, we show that epithelium in the inner ear organoids contains cochlear and vestibular identities similar to the developing human inner ear. Moreover, the inner ear organoids contain immature type I and type II vestibular hair cells. Within these putative inner ear cell types, we confirmed the expression of genes and proteins linked to sensorineural hearing loss. This approach using human inner ear organoids would allow for disease modeling of specific genetic inner ear pathologies in the sensory and nonsensory domains of the inner ear.

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Section: Resultsmentioning

confidence: 93%

A Single-Cell Level Comparison of Human Inner Ear Organoids and the Human Cochlea and Vestibular Organs

Valk

Beelen

Steinhart

et al. 2022

Preprint

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“…Craniofacial muscles, including those of the pharynx, arise from unique embryonic origins (Tajbakhsh, 2009;Grimaldi and Tajbakhsh, 2021) and exhibit unique properties relative to the muscles of the trunk and limbs. In pharyngeal muscles, the typically quiescent satellite cell pool remains active under basal conditions (Randolph et al, 2015;Kim et al, 2022).…”

Section: Resultsmentioning

confidence: 99%

Pharyngeal pathology in a mouse model of oculopharyngeal muscular dystrophy is associated with impaired basal autophagy in myoblasts

Zeuthen

Zhu

et al. 2022

Front. Cell Dev. Biol.

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Oculopharyngeal muscular dystrophy (OPMD) is a late-onset dominant disease that primarily affects craniofacial muscles. Despite the fact that the genetic cause of OPMD is known to be expansion mutations in the gene encoding the nuclear polyadenosine RNA binding protein PABPN1, the molecular mechanisms of pathology are unknown and no pharmacologic treatments are available. Due to the limited availability of patient tissues, several animal models have been employed to study the pathology of OPMD. However, none of these models have demonstrated functional deficits in the muscles of the pharynx, which are predominantly affected by OPMD. Here, we used a knock-in mouse model of OPMD, Pabpn1+/A17, that closely genocopies patients. In Pabpn1+/A17 mice, we detected impaired pharyngeal muscle function, and impaired pharyngeal satellite cell proliferation and fusion. Molecular studies revealed that basal autophagy, which is required for normal satellite cell function, is higher in pharynx-derived myoblasts than in myoblasts derived from limb muscles. Interestingly, basal autophagy is impaired in cells derived from Pabpn1+/A17 mice. Pabpn1 knockdown in pharyngeal myoblasts failed to recapitulate the autophagy defect detected in Pabpn1+/A17 myoblasts suggesting that loss of PABPN1 function does not contribute to the basal autophagy defect. Taken together, these studies provide the first evidence for pharyngeal muscle and satellite cell pathology in a mouse model of OPMD and suggest that aberrant gain of PABPN1 function contributes to the craniofacial pathology in OPMD.

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“…The latter study further showed that some of the tendons and muscle connective tissues of the extraocular muscles around the ala hypochiasmatica are also derived from mesoderm, an exceptional embryonic source for the connective tissue in head skeletal muscles (Comai et al, 2020). In other words, the ala hypochiasmatica is not just a mesodermal skeleton but also a part of the mesodermal embryonic environment for the rectus components of extraocular muscles (reviewed by Grimaldi & Tajbakhsh, 2021). Thus, the ala hypochiasmatica is considered to be an evolutionary novelty in mammals (Comai et al, 2020; McBratney‐Owen et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

“…Although the mammalian ala hypochiasmatica appears to be a part of the cranial base, it has been considered to be a cartilaginous remnant of the ancestral primary cranial wall, based on its topographical relationships with the extraocular muscles and cranial nerves (Kuratani, 1989). On the other hand, from the perspective of developmental biology, the ala hypochiasmatica has been shown to be derived from the mesoderm, together with connective tissues for extraocular muscles, despite its location in the prechordal domain (Comai et al, 2020; McBratney‐Owen et al, 2008; reviewed by Grimaldi & Tajbakhsh, 2021). No mesodermal musculoskeletal elements are generally expected to develop in the prechordal region, and the mesodermal connective tissues of head skeletal muscles are also considered to be exceptional.…”

Section: Discussionmentioning

confidence: 99%

A detailed redescription of the mesoderm/neural crest cell boundary in the murine orbitotemporal region integrates the mammalian cranium into a pan‐amniote cranial configuration

Kuroda

Adachi

Kuratani

2022

Evolution and Development

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The morphology of the mammalian chondrocranium appears to differ significantly from those of other amniotes, since the former possesses uniquely developed brain and cranial sensory organs. In particular, a question has long remained unanswered as to the developmental and evolutionary origins of a cartilaginous nodule called the ala hypochiasmatica. In this study, we investigated the embryonic origin of skeletal elements in the murine orbitotemporal region by combining genetic cell lineage analysis with detailed morphological observation. Our results showed that the mesodermal

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Diversity in cranial muscles: Origins and developmental programs

Cited by 18 publications

References 42 publications

A Single-Cell Level Comparison of Human Inner Ear Organoids and the Human Cochlea and Vestibular Organs

A Single-Cell Level Comparison of Human Inner Ear Organoids and the Human Cochlea and Vestibular Organs

Pharyngeal pathology in a mouse model of oculopharyngeal muscular dystrophy is associated with impaired basal autophagy in myoblasts

A detailed redescription of the mesoderm/neural crest cell boundary in the murine orbitotemporal region integrates the mammalian cranium into a pan‐amniote cranial configuration

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