ALMS1 and Alstrom syndrome: a recessive form of metabolic, neurosensory and cardiac deficits

被引:71
作者
Hearn, Tom [1 ]
机构
[1] Swansea Univ, Inst Life Sci, Med Sch, Singleton Pk, Swansea SA2 8PP, W Glam, Wales
来源
JOURNAL OF MOLECULAR MEDICINE-JMM | 2019年 / 97卷 / 01期
关键词
Actinin; ALMS motif; Bardet-Biedl syndrome; C10orf90; CART complex; Centriole; Centrosome; CEP250; CEP295; C-Nap1; Cilia; Ciliopathy; Diabetes; Endosomal recycling; Fibrosis; GLUT4; Insulin resistance; KIAA1731; Mitogenic cardiomyopathy; Notch; Obesity; Pericentrin; RFX; Rootlet; BARDET-BIEDL-SYNDROME; PROTEIN-INTERACTION LANDSCAPE; BASAL BODY DYSFUNCTION; PLANAR CELL POLARITY; PRIMARY-CILIUM; INTRAFLAGELLAR TRANSPORT; TRANSCRIPTIONAL REGULATION; HUMAN INTERACTOME; ZEBRAFISH MODELS; HUMAN CENTROSOME;
D O I
10.1007/s00109-018-1714-x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Alstrom syndrome (AS) is characterised by metabolic deficits, retinal dystrophy, sensorineural hearing loss, dilated cardiomyopathy and multi-organ fibrosis. Elucidating the function of the mutated gene, ALMS1, is critical for the development of specific treatments and may uncover pathways relevant to a range of other disorders including common forms of obesity and type 2 diabetes. Interest in ALMS1 is heightened by the recent discovery of its involvement in neonatal cardiomyocyte cell cycle arrest, a process with potential relevance to regenerative medicine. ALMS1 encodes a similar to 0.5 megadalton protein that localises to the base of centrioles. Some studies have suggested a role for this protein in maintaining centriole-nucleated sensory organelles termed primary cilia, and AS is now considered to belong to the growing class of human genetic disorders linked to ciliary dysfunction (ciliopathies). However, mechanistic details are lacking, and recent studies have implicated ALMS1 in several processes including endosomal trafficking, actin organisation, maintenance of centrosome cohesion and transcription. In line with a more complex picture, multiple isoforms of the protein likely exist and non-centrosomal sites of localisation have been reported. This review outlines the evidence for both ciliary and extra-ciliary functions of ALMS1.
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页码:1 / 17
页数:17
相关论文
共 187 条
[1]   Proximity mapping of human separase by the BioID approach [J].
Agircan, Fikret Gurkan ;
Hata, Shoji ;
Nussbaum-Krammer, Carmen ;
Atorino, Enrico ;
Schiebel, Elmar .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2016, 478 (02) :656-662
[2]  
ALSTROM C H, 1959, Acta Psychiatr Neurol Scand Suppl, V129, P1
[3]   Proteomic characterization of the human centrosome by protein correlation profiling [J].
Andersen, JS ;
Wilkinson, CJ ;
Mayor, T ;
Mortensen, P ;
Nigg, EA ;
Mann, M .
NATURE, 2003, 426 (6966) :570-574
[4]   Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome [J].
Ansley, SJ ;
Badano, JL ;
Blacque, OE ;
Hill, J ;
Hoskins, BE ;
Leitch, CC ;
Kim, JC ;
Ross, AJ ;
Eichers, ER ;
Teslovich, TM ;
Mah, AK ;
Johnsen, RC ;
Cavender, JC ;
Lewis, RA ;
Leroux, MR ;
Beales, PL ;
Katsanis, N .
NATURE, 2003, 425 (6958) :628-633
[5]   Membrane fission by dynamin: what we know and what we need to know [J].
Antonny, Bruno ;
Burd, Christopher ;
De Camilli, Pietro ;
Chen, Elizabeth ;
Daumke, Oliver ;
Faelber, Katja ;
Ford, Marijn ;
Frolov, Vadim A. ;
Frost, Adam ;
Hinshaw, Jenny E. ;
Kirchhausen, Tom ;
Kozlov, Michael M. ;
Lenz, Martin ;
Low, Harry H. ;
McMahon, Harvey ;
Merrifield, Christien ;
Pollard, Thomas D. ;
Robinson, Phillip J. ;
Roux, Aurelien ;
Schmid, Sandra .
EMBO JOURNAL, 2016, 35 (21) :2270-2284
[6]   Centrosomes as signalling centres [J].
Arquint, Christian ;
Gabryjonczyk, Anna-Maria ;
Nigg, Erich A. .
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES, 2014, 369 (1650)
[7]   Fat Aussie -: A new Alstrom syndrome mouse showing a critical role for ALMS1 in obesity, diabetes, and spermatogenesis [J].
Arsov, Todor ;
Silva, Diego G. ;
O'Bryan, Moira K. ;
Sainsbury, Amanda ;
Lee, Nicola J. ;
Kennedy, Claire ;
Manji, Shehnaaz S. M. ;
Nelms, Keats ;
Liu, Conan ;
Vinuesa, Carola G. ;
de Kretser, David M. .
MOLECULAR ENDOCRINOLOGY, 2006, 20 (07) :1610-1622
[8]   The molecular motor Myosin Va interacts with the cilia-centrosomal protein RPGRIP1L [J].
Assis, L. H. P. ;
Silva-Junior, R. M. P. ;
Dolce, L. G. ;
Alborghetti, M. R. ;
Honorato, R. V. ;
Nascimento, A. F. Z. ;
Melo-Hanchuk, T. D. ;
Trindade, D. M. ;
Tonoli, C. C. C. ;
Santos, C. T. ;
Oliveira, P. S. L. ;
Larson, R. E. ;
Kobarg, J. ;
Espreafico, E. M. ;
Giuseppe, P. O. ;
Murakami, M. T. .
SCIENTIFIC REPORTS, 2017, 7
[9]   Monogenic diabetes syndromes: Locus-specific databases for Alstrom, Wolfram, and Thiamine-responsive megaloblastic anemia [J].
Astuti, Dewi ;
Sabir, Ataf ;
Fulton, Piers ;
Zatyka, Malgorzata ;
Williams, Denise ;
Hardy, Carol ;
Milan, Gabriella ;
Favaretto, Francesca ;
Yu-Wai-Man, Patrick ;
Rohayem, Julia ;
Lopez de Heredia, Miguel ;
Hershey, Tamara ;
Tranebjaerg, Lisbeth ;
Chen, Jian-Hua ;
Chaussenot, Annabel ;
Nunes, Virginia ;
Marshall, Bess ;
McAfferty, Susan ;
Tillmann, Vallo ;
Maffei, Pietro ;
Paquis-Flucklinger, Veronique ;
Geberhiwot, Tarekign ;
Mlynarski, Wojciech ;
Parkinson, Kay ;
Picard, Virginie ;
Esteban Bueno, Gema ;
Dias, Renuka ;
Arnold, Amy ;
Richens, Caitlin ;
Paisey, Richard ;
Urano, Fumihiko ;
Semple, Robert ;
Sinnott, Richard ;
Barrett, Timothy G. .
HUMAN MUTATION, 2017, 38 (07) :764-777
[10]   The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking [J].
Bachmann-Gagescu, Ruxandra ;
Dona, Margo ;
Hetterschijt, Lisette ;
Tonnaer, Edith ;
Peters, Theo ;
de Vrieze, Erik ;
Mans, Dorus A. ;
van Beersum, Sylvia E. C. ;
Phelps, Ian G. ;
Arts, Heleen H. ;
Keunen, Jan E. ;
Ueffing, Marius ;
Roepman, Ronald ;
Boldt, Karsten ;
Doherty, Dan ;
Moens, Cecilia B. ;
Neuhauss, Stephan C. F. ;
Kremer, Hannie ;
van Wijk, Erwin .
PLOS GENETICS, 2015, 11 (10)