title: Glomulin is predominantly expressed in vascular smooth muscle cells in the embryonic and adult mouse.
abstract: Mutations in the glomulin gene result in dominantly inherited vascular lesions of the skin known as glomuvenous malformations (GVMs). These lesions are histologically distinguished by their distended vein-like channels containing characteristic 'glomus cells', which appear to be incompletely or improperly differentiated vascular smooth muscle cells (VSMCs). The function of glomulin is currently unknown. We studied glomulin expression during murine development (E9.5 days post-coitum until adulthood) by non-radioactive in situ hybridization. Glomulin was first detected at E10.5 dpc in cardiac outflow tracts. Later, it showed strong expression in VSMCs as well as a limited expression in the perichondrium. At E11.5-14.5 dpc glomulin RNA was most abundant in the walls of the large vessels. At E16.5 dpc expression was also detectable in smaller arteries and veins. The high expression of glomulin in murine vasculature suggests an important role for glomulin in blood vessel development and/or maintenance, which is supported by the vascular phenotype seen in GVM patients with mutations in this gene.
authors.affiliation: Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université catholique de Louvain, Avenue Hippocrate 74 (+5), BP 75.39, 1200 Brussels, Belgium.
authors.forename: Brendan A S
authors.initials: BA
authors.lastname: McIntyre
authors.forename: Pascal
authors.initials: P
authors.lastname: Brouillard
authors.forename: Virginie
authors.initials: V
authors.lastname: Aerts
authors.forename: Ilse
authors.initials: I
authors.lastname: Gutierrez-Roelens
authors.forename: Miikka
authors.initials: M
authors.lastname: Vikkula
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001808:Blood Vessels / Q000196:embryology / Q000378:metabolism; D004622:Embryo, Mammalian / Q000378:metabolism; D018507:Gene Expression Regulation, Developmental; D017403:In Situ Hybridization; D007668:Kidney / Q000378:metabolism; D051379:Mice / Q000196:embryology* / Q000378:metabolism; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics* / Q000378:metabolism; D009131:Muscle, Smooth, Vascular / Q000196:embryology* / Q000378:metabolism; D016415:Sequence Alignment; D019170:Somites / Q000378:metabolism; D014738:Vibrissae / Q000378:metabolism
chemical_list: D009124:Muscle Proteins; C493011:glomulin protein, mouse