The histone code reader Spin1 controls skeletal muscle development.

Fiche publication


Date publication

novembre 2017

Journal

Cell death & disease

Auteurs

Membres identifiés du Cancéropôle Est :
Dr METZGER Daniel, Mme MESSADDEQ Nadia


Tous les auteurs :
Greschik H, Duteil D, Messaddeq N, Willmann D, Arrigoni L, Sum M, Jung M, Metzger D, Manke T, Günther T, Schüle R

Résumé

While several studies correlated increased expression of the histone code reader Spin1 with tumor formation or growth, little is known about physiological functions of the protein. We generated Spin1 mice with ablation of Spin1 in myoblast precursors using the Myf5-Cre deleter strain. Most Spin1 mice die shortly after birth displaying severe sarcomere disorganization and necrosis. Surviving Spin1 mice are growth-retarded and exhibit the most prominent defects in soleus, tibialis anterior, and diaphragm muscle. Transcriptome analyses of limb muscle at embryonic day (E) 15.5, E16.5, and at three weeks of age provided evidence for aberrant fetal myogenesis and identified deregulated skeletal muscle (SkM) functional networks. Determination of genome-wide chromatin occupancy in primary myoblast revealed direct Spin1 target genes and suggested that deregulated basic helix-loop-helix transcription factor networks account for developmental defects in Spin1 fetuses. Furthermore, correlating histological and transcriptome analyses, we show that aberrant expression of titin-associated proteins, abnormal glycogen metabolism, and neuromuscular junction defects contribute to SkM pathology in Spin1 mice. Together, we describe the first example of a histone code reader controlling SkM development in mice, which hints at Spin1 as a potential player in human SkM disease.

Mots clés

Animals, Cell Cycle Proteins, genetics, Histone Code, genetics, Humans, Mice, Microtubule-Associated Proteins, genetics, Muscle Development, genetics, Phosphoproteins, genetics, Signal Transduction, Transcription Factors, genetics

Référence

Cell Death Dis. 2017 Nov 23;8(11):e3173