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Muscle connective tissue controls development of the diaphragm and is a source of congenital diaphragmatic hernias.

Abstract：

:The diaphragm is an essential mammalian skeletal muscle, and defects in diaphragm development are the cause of congenital diaphragmatic hernias (CDHs), a common and often lethal birth defect. The diaphragm is derived from multiple embryonic sources, but how these give rise to the diaphragm is unknown, and, despite the identification of many CDH-associated genes, the etiology of CDH is incompletely understood. Using mouse genetics, we show that the pleuroperitoneal folds (PPFs), which are transient embryonic structures, are the source of the diaphragm's muscle connective tissue and regulate muscle development, and we show that the striking migration of PPF cells controls diaphragm morphogenesis. Furthermore, Gata4 mosaic mutations in PPF-derived muscle connective tissue fibroblasts result in the development of localized amuscular regions that are biomechanically weaker and more compliant, leading to CDH. Thus, the PPFs and muscle connective tissue are critical for diaphragm development, and mutations in PPF-derived fibroblasts are a source of CDH.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Merrell AJ,Ellis BJ,Fox ZD,Lawson JA,Weiss JA,Kardon G

doi

10.1038/ng.3250

subject

Has Abstract

pub_date

2015-05-01 00:00:00

pages

496-504

issue

5

eissn

1061-4036

issn

1546-1718

pii

ng.3250

journal_volume

47

pub_type

杂志文章

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