title: A novel form of ciliopathy underlies hyperphagia and obesity in Ankrd26 knockout mice.
abstract: Human ciliopathies are genetic disorders caused by mutations in genes responsible for the formation and function of primary cilia. Some are associated with hyperphagia and obesity (e.g., Bardet-Biedl Syndrome, Alström Syndrome), but the mechanisms underlying these problems are not fully understood. The human gene ANKRD26 is located on 10p12, a locus that is associated with some forms of hereditary obesity. Previously, we reported that disruption of this gene causes hyperphagia, obesity and gigantism in mice. In the present study, we looked for the mechanisms that induce hyperphagia in the Ankrd26-/- mice and found defects in primary cilia in regions of the central nervous system that control appetite and energy homeostasis.
authors.affiliation: Laboratory of Molecular Biology, National Cancer Institute, NIH, Bethesda, USA.
authors.forename: Peter
authors.initials: P
authors.lastname: Acs
authors.forename: Peter O
authors.initials: PO
authors.lastname: Bauer
authors.forename: Balazs
authors.initials: B
authors.lastname: Mayer
authors.forename: Tapan
authors.initials: T
authors.lastname: Bera
authors.forename: Rhonda
authors.initials: R
authors.lastname: Macallister
authors.forename: Eva
authors.initials: E
authors.lastname: Mezey
authors.forename: Ira
authors.initials: I
authors.lastname: Pastan
mesh_terms: D000109:Acetylcholine / Q000097:blood; D000818:Animals; D001921:Brain / Q000378:metabolism / Q000648:ultrastructure; D002923:Cilia / Q000378:metabolism / Q000648:ultrastructure; D003345:Corticosterone / Q000097:blood; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D006963:Hyperphagia / Q000235:genetics* / Q000473:pathology*; D036341:Intercellular Signaling Peptides and Proteins; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D009474:Neurons / Q000648:ultrastructure*; D009765:Obesity / Q000235:genetics* / Q000473:pathology*; D010286:Paraventricular Hypothalamic Nucleus / Q000378:metabolism / Q000648:ultrastructure*; D044105:Receptor, Melanocortin, Type 4 / Q000378:metabolism; D054411:Receptors, Leptin / Q000378:metabolism; D013312:Stress, Physiological; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism
chemical_list: C526207:Ankrd26 protein, mouse; D004268:DNA-Binding Proteins; D036341:Intercellular Signaling Peptides and Proteins; C574273:MC4R protein, mouse; D044105:Receptor, Melanocortin, Type 4; D054411:Receptors, Leptin; D014157:Transcription Factors; D000109:Acetylcholine; D003345:Corticosterone