Development of the diaphragm – a skeletal muscle essential for mammalian respiration

Merrell, Allyson J.; Kardon, Gabrielle

doi:10.1111/febs.12274

Cited by 109 publications

(110 citation statements)

References 77 publications

(115 reference statements)

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“…Components of autophagic pathway were also affected, expressed as an increase in LC3 (LC3A) and decrease in p62. transcriptional regulation and metabolism, but differed substantially in the direction of expression change in a number of genes related to muscle functions, including transcription, metabolism, structure and regulation -a not entirely unexpected finding considering that these three muscles have different morphogenetic origins and functional requirements (Eberhard and Jockusch, 2004;Merrell and Kardon, 2013). The CLOCK gene deregulation, we also confirmed at the protein level in Col6a1 −/− mice, suggests a previously unreported relationship between circadian rhythms, the molecular clock and myopathy.…”

Section: Col6a1supporting

confidence: 54%

Deep RNA profiling identified clock and molecular clock genes as pathophysiological signatures in collagen VI myopathy

Scotton

Bovolenta

Schwartz

et al. 2016

Journal of Cell Science

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Collagen VI myopathies are genetic disorders caused by mutations in collagen 6 A1, A2 and A3 genes, ranging from the severe Ullrich congenital muscular dystrophy to the milder Bethlem myopathy, which is recapitulated by collagen-VI-null (Col6a1 −/− ) mice. Abnormalities in mitochondria and autophagic pathway have been proposed as pathogenic causes of collagen VI myopathies, but the link between collagen VI defects and these metabolic circuits remains unknown. To unravel the expression profiling perturbation in muscles with collagen VI myopathies, we performed a deep RNA profiling in both Col6a1 −/− mice and patients with collagen VI pathology. The interactome map identified common pathways suggesting a previously undetected connection between circadian genes and collagen VI pathology. Intriguingly, Bmal1 −/− (also known as Arntl) mice, a well-characterized model displaying arrhythmic circadian rhythms, showed profound deregulation of the collagen VI pathway and of autophagy-related genes. The involvement of circadian rhythms in collagen VI myopathies is new and links autophagy and mitochondrial abnormalities. It also opens new avenues for therapies of hereditary myopathies to modulate the molecular clock or potential gene-environment interactions that might modify muscle damage pathogenesis.

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Section: Col6a1supporting

confidence: 54%

Deep RNA profiling identified clock and molecular clock genes as pathophysiological signatures in collagen VI myopathy

Scotton

Bovolenta

Schwartz

et al. 2016

Journal of Cell Science

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“…The parts of the inner layer form the peripheral sections of the diaphragm. Extensions of the pleural cavities into the body walls form the costodiaphragmatic recesses, which forms the domeshaped adult diaphragm [11,12]. In terms of the embryonic origins, the diaphragm consists of two distinct muscles each of which has different actions on the rib cage.…”

Section: Embryology Of the Diaphragmmentioning

confidence: 99%

Network of Breathing. Multifunctional Role of the Diaphragm: A Review

Kocjan

Adamek

Gzik-Zroska

et al. 2017

Advances in Respiratory Medicine

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The diaphragm is the primary muscle involved in active inspiration and serves also as an important anatomical landmark that separates the thoracic and abdominal cavity. However, the diaphragm muscle like other structures and organs in the human body has more than one function, and displays many anatomic links throughout the body, thereby forming a 'network of breathing'. Besides respiratory function, it is important for postural control as it stabilises the lumbar spine during loading tasks. It also plays a vital role in the vascular and lymphatic systems, as well as, is greatly involved in gastroesophageal functions such as swallowing, vomiting, and contributing to the gastroesophageal reflux barrier. In this paper we set out in detail the anatomy and embryology of the diaphragm and attempt to show it serves as both: an important exchange point of information, originating in different areas of the body, and a source of information in itself. The study also discusses all of its functions related to breathing.

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“…In mammals, lung and heart are separated from visceral organs by the diaphragm muscle. However, a muscular diaphragm is a defining characteristic of mammals that is not found in other vertebrates, and the ancestral origin of this recent innovation is currently unknown (Merrell and Kardon, 2013). Although highly speculative, it will be interesting to investigate whether the vertebrate muscle/septum and the insect AMs/TARMs could represent two specific adaptations of an ancestral demarcation between the circulatory systems, respiratory systems and visceral organs.…”

Section: Direct Regulation Of Tup By Org-1 Is Am/tarm-specificmentioning

confidence: 99%

An Org-1–Tup transcriptional cascade reveals different types of alary muscles connecting internal organs in Drosophila

et al. 2014

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The T-box transcription factor Tbx1 and the LIM-homeodomain transcription factor Islet1 are key components in regulatory circuits that generate myogenic and cardiogenic lineage diversity in chordates. We show here that Org-1 and Tup, the Drosophila orthologs of Tbx1 and Islet1, are co-expressed and required for formation of the heart-associated alary muscles (AMs) in the abdomen. The same holds true for lineage-related muscles in the thorax that have not been described previously, which we name thoracic alary-related muscles (TARMs). Lineage analyses identified the progenitor cell for each AM and TARM. Three-dimensional highresolution analyses indicate that AMs and TARMs connect the exoskeleton to the aorta/heart and to different regions of the midgut, respectively, and surround-specific tracheal branches, pointing to an architectural role in the internal anatomy of the larva. Org-1 controls tup expression in the AM/TARM lineage by direct binding to two regulatory sites within an AM/TARM-specific cis-regulatory module, tupAME. The contributions of Org-1 and Tup to the specification of Drosophila AMs and TARMs provide new insights into the transcriptional control of Drosophila larval muscle diversification and highlight new parallels with gene regulatory networks involved in the specification of cardiopharyngeal mesodermal derivatives in chordates.

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Development of the diaphragm – a skeletal muscle essential for mammalian respiration

Cited by 109 publications

References 77 publications

Deep RNA profiling identified clock and molecular clock genes as pathophysiological signatures in collagen VI myopathy

Deep RNA profiling identified clock and molecular clock genes as pathophysiological signatures in collagen VI myopathy

Network of Breathing. Multifunctional Role of the Diaphragm: A Review

An Org-1–Tup transcriptional cascade reveals different types of alary muscles connecting internal organs in Drosophila

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