title: Gallus gallus orthologous to human alpha-dystroglycanopathies candidate genes: Gene expression and characterization during chicken embryogenesis.
abstract: Alpha-dystroglycanopathies are a heterogenic group of human rare diseases that have in common defects of α-dystroglycan O-glycosylation. These congenital disorders share common features as muscular dystrophy, malformations on central nervous system and more rarely altered ocular development, as well as mutations on a set of candidate genes involved on those syndromes. Severity of the syndromes is variable, appearing Walker-Warburg as the most severe where mutations at protein O-mannosyl transferases POMT1 and POMT2 genes are frequently described. When studying the lack of MmPomt1 in mouse embryonic development, as a murine model of Walker-Warburg syndrome, MmPomt1 null phenotype was lethal because Reitchert's membrane fails during embryonic development. Here, we report gene expression from Gallus gallus orthologous genes to human candidates on alpha-dystroglycanopathies POMT1, POMT2, POMGnT1, FKTN, FKRP and LARGE, making special emphasis in expression and localization of GgPomt1. Results obtained by quantitative RT-PCR, western-blot and immunochemistry revealed close gene expression patterns among human and chicken at key tissues affected during development when suffering an alpha-dystroglycanopathy, leading us to stand chicken as a useful animal model for molecular characterization of glycosyltransferases involved in the O-glycosylation of α-Dystroglycan and its role in embryonic development.
authors.affiliation: Departamento de Ciencias Básicas de la Salud, Área de Bioquímica, y Biología Molecular, Facultad de Ciencias de la Salud, Universidad Rey Juan Carlos, Avda. de Atenas s/n. 28922, Alcorcón, Madrid, Spain. Electronic address: adriana.izquierdo@urjc.es.
authors.forename: Adriana
authors.initials: A
authors.lastname: Izquierdo-Lahuerta
authors.affiliation: Departamento de Ciencias Básicas de la Salud, Área de Bioquímica, y Biología Molecular, Facultad de Ciencias de la Salud, Universidad Rey Juan Carlos, Avda. de Atenas s/n. 28922, Alcorcón, Madrid, Spain.
authors.forename: Oscar
authors.initials: O
authors.lastname: de Luis
authors.affiliation: Departamento de Ciencias Básicas de la Salud, Area de Anatomía Humana y Embriología, Facultad de Ciencias de la Salud, Universidad Rey Juan Carlos, Avda. de Atenas s/n, 28922, Alcorcón, Madrid, Spain.
authors.forename: Francisco
authors.initials: F
authors.lastname: Gómez-Esquer
authors.affiliation: Departamento de Bioquímica, Facultad de Medicina, Universidad Autónoma de Madrid, C/ Arzobispo Morcillo 4, 28029, Madrid, Spain.
authors.forename: Jesús
authors.initials: J
authors.lastname: Cruces
authors.affiliation: Departamento de Ciencias Básicas de la Salud, Área de Bioquímica, y Biología Molecular, Facultad de Ciencias de la Salud, Universidad Rey Juan Carlos, Avda. de Atenas s/n. 28922, Alcorcón, Madrid, Spain.
authors.forename: Antonio
authors.initials: A
authors.lastname: Coloma
mesh_terms: D000818:Animals; D002645:Chickens / Q000235:genetics*; D049030:Dystroglycans / Q000378:metabolism*; D047108:Embryonic Development / Q000235:genetics*; D018507:Gene Expression Regulation, Developmental; D056726:Genetic Association Studies; D006801:Humans; D007150:Immunohistochemistry; D017386:Sequence Homology, Amino Acid; D013116:Spinal Cord / Q000196:embryology / Q000378:metabolism
chemical_list: D049030:Dystroglycans
keywords: Chicken; Dystroglycanopathies; POMT1; Walker-Warburg syndrome