title: Loss of the cholesterol-binding protein prominin-1/CD133 causes disk dysmorphogenesis and photoreceptor degeneration.
abstract: Prominin-1/CD133 (Prom-1) is a commonly used marker of neuronal, vascular, hematopoietic and other stem cells, yet little is known about its biological role and importance in vivo. Here, we show that loss of Prom-1 results in progressive degeneration of mature photoreceptors with complete loss of vision. Despite the expression of Prom-1 on endothelial progenitors, photoreceptor degeneration was not attributable to retinal vessel defects, but caused by intrinsic photoreceptor defects in disk formation, outer segment morphogenesis, and associated with visual pigment sorting and phototransduction abnormalities. These findings shed novel insight on how Prom-1 regulates neural retinal development and phototransduction in vertebrates.
authors.affiliation: Vesalius Research Center, Vlaams Instituut voor Biotechnologie, Katholieke Universiteit Leuven, B-3000 Leuven, Belgium.
authors.forename: Serena
authors.initials: S
authors.lastname: Zacchigna
authors.forename: Hideyasu
authors.initials: H
authors.lastname: Oh
authors.forename: Michaela
authors.initials: M
authors.lastname: Wilsch-Bräuninger
authors.forename: Ewa
authors.initials: E
authors.lastname: Missol-Kolka
authors.forename: József
authors.initials: J
authors.lastname: Jászai
authors.forename: Sandra
authors.initials: S
authors.lastname: Jansen
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Tanimoto
authors.forename: Felix
authors.initials: F
authors.lastname: Tonagel
authors.forename: Mathias
authors.initials: M
authors.lastname: Seeliger
authors.forename: Wieland B
authors.initials: WB
authors.lastname: Huttner
authors.forename: Denis
authors.initials: D
authors.lastname: Corbeil
authors.forename: Mieke
authors.initials: M
authors.lastname: Dewerchin
authors.forename: Stefan
authors.initials: S
authors.lastname: Vinckier
authors.forename: Lieve
authors.initials: L
authors.lastname: Moons
authors.forename: Peter
authors.initials: P
authors.lastname: Carmeliet
mesh_terms: D000071916:AC133 Antigen; D000818:Animals; D015703:Antigens, CD / Q000235:genetics*; D002784:Cholesterol / Q000378:metabolism; D015536:Down-Regulation / Q000235:genetics; D042783:Endothelial Cells / Q000166:cytology / Q000378:metabolism; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006023:Glycoproteins / Q000235:genetics*; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D009410:Nerve Degeneration / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D010455:Peptides / Q000235:genetics*; D020419:Photoreceptor Cells, Vertebrate / Q000378:metabolism* / Q000473:pathology; D012160:Retina / Q000002:abnormalities* / Q000378:metabolism* / Q000503:physiopathology; D012161:Retinal Artery / Q000002:abnormalities / Q000503:physiopathology; D012162:Retinal Degeneration / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D012168:Retinal Pigments / Q000378:metabolism; D013234:Stem Cells / Q000166:cytology / Q000378:metabolism; D014785:Vision, Ocular / Q000235:genetics
chemical_list: D000071916:AC133 Antigen; D015703:Antigens, CD; D006023:Glycoproteins; D010455:Peptides; C000606024:Prom1 protein, mouse; D012168:Retinal Pigments; D002784:Cholesterol