caa a22 4500 606201947 CHVBK 20210128100950.0 cr unu---uuuuu 210128e20150501xx s 000 0 eng 10.1007/s00429-014-0741-9 doi (NATIONALLICENCE)springer-10.1007/s00429-014-0741-9 A novel form of ciliopathy underlies hyperphagia and obesity in Ankrd26 knockout mice [Elektronische Daten] [Peter Acs, Peter Bauer, Balazs Mayer, Tapan Bera, Rhonda Macallister, Eva Mezey, Ira Pastan] 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. Springer-Verlag (outside the USA), 2014 Obesity nationallicence Neuronal cilia nationallicence Leptin receptor nationallicence ANKRD26 nationallicence Melanocortin receptor nationallicence Feeding behavior nationallicence Paraventricular nucleus nationallicence Arcuate nucleus nationallicence CRH nationallicence Ciliary body proteins nationallicence AC3 : Adenylyl cyclase 3 nationallicence ACTH : Adrenocorticotrophic hormone nationallicence ADX : Adrenalectomy nationallicence α-MSH : α-Melanocyte stimulating hormone nationallicence AgRP : Agouti-related protein nationallicence Ankrd26 : Ankyrin repeat domain 26 nationallicence ARC : Arcuate nucleus nationallicence BBS : Bardet-Biedl syndrome nationallicence BW : Body weight nationallicence CNS : Central nervous system nationallicence CORT : Corticosterone nationallicence CRH : Corticotropin-releasing hormone nationallicence DM : Dorsomedial nucleus of the hypothalamus nationallicence GPCR : G-protein-coupled receptor nationallicence HPA : Hypothalamus-pituitary-adrenal nationallicence IHC : Immunohistochemistry nationallicence MC4R : Melanocortin 4 receptor nationallicence Mchr1 : Melanin-concentrating hormone receptor 1 nationallicence NPY : Neuropeptide Y nationallicence NTS : Nucleus of the solitary tract nationallicence POMC : Proopiomelanocortin nationallicence PVN : Paraventricular nucleus of the hypothalamus nationallicence Sstr3 : Somatostatin receptor 3 nationallicence TRH : Thyrotropin releasing hormone nationallicence VM : Ventromedial nucleus of the hypothalamus nationallicence VP : Arginine vasopressin nationallicence Acs Peter Laboratory of Molecular Biology, National Cancer Institute, NIH, Bethesda, USA aut Bauer Peter Neuro-oncology Branch, National Cancer Institute, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, USA aut Mayer Balazs Adult Stem Cell Unit, CSDB, National Institute of Dental and Craniofacial Research, NIH, Bethesda, USA aut Bera Tapan Laboratory of Molecular Biology, National Cancer Institute, NIH, Bethesda, USA aut Macallister Rhonda National Cancer Institute, NIH, Bethesda, USA aut Mezey Eva Adult Stem Cell Unit, CSDB, National Institute of Dental and Craniofacial Research, NIH, Bethesda, USA aut Pastan Ira Laboratory of Molecular Biology, National Cancer Institute, NIH, Bethesda, USA aut Brain Structure and Function Springer Berlin Heidelberg 220/3(2015-05-01), 1511-1528 1863-2653 220:3<1511 2015 220 429 https://doi.org/10.1007/s00429-014-0741-9 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s00429-014-0741-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Acs Peter Laboratory of Molecular Biology, National Cancer Institute, NIH, Bethesda, USA aut NATIONALLICENCE 700 1- Bauer Peter Neuro-oncology Branch, National Cancer Institute, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, USA aut NATIONALLICENCE 700 1- Mayer Balazs Adult Stem Cell Unit, CSDB, National Institute of Dental and Craniofacial Research, NIH, Bethesda, USA aut NATIONALLICENCE 700 1- Bera Tapan Laboratory of Molecular Biology, National Cancer Institute, NIH, Bethesda, USA aut NATIONALLICENCE 700 1- Macallister Rhonda National Cancer Institute, NIH, Bethesda, USA aut NATIONALLICENCE 700 1- Mezey Eva Adult Stem Cell Unit, CSDB, National Institute of Dental and Craniofacial Research, NIH, Bethesda, USA aut NATIONALLICENCE 700 1- Pastan Ira Laboratory of Molecular Biology, National Cancer Institute, NIH, Bethesda, USA aut NATIONALLICENCE 773 0- Brain Structure and Function Springer Berlin Heidelberg 220/3(2015-05-01), 1511-1528 1863-2653 220:3<1511 2015 220 429