PMID: 11912185Mar 26, 2002Paper

The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking

Human Molecular Genetics
Qing ZhangR T Swank

Abstract

The muted (mu) mouse is a model for Hermansky-Pudlak Syndrome (HPS), an inherited disorder of humans causing hypopigmentation, hemorrhaging and early death due to lung abnormalities. The mu gene regulates the synthesis of specialized mammalian organelles such as melanosomes, platelet dense granules and lysosomes. Further, balance defects indicate that it controls the synthesis of otoliths of the inner ear. The mu gene has been identified by a positional/candidate approach involving large mouse interspecific backcrosses. It encodes a novel ubiquitously expressed transcript, specifying a predicted 185 amino acid protein, whose expression is abrogated in the mu allele which contains an insertion of an early transposon (ETn) retrotransposon. Expression is likewise expected to be lost in the mu( J) allele which contains a deletion of a single base pair within the coding region. The presence of structurally aberrant melanosomes within the eyes of mutant mice together with localization of the muted protein within vesicles in both the cell body and dendrites of transfected melan-a melanocytes emphasizes the role of the mu gene in vesicle trafficking. The mu gene is present only in mice and humans among analyzed genomes. As is true for ...Continue Reading

References

Mar 15, 1993·Biochemical and Biophysical Research Communications·S KobayashiT Uede
Jan 1, 1995·Mammalian Genome : Official Journal of the International Mammalian Genome Society·E P O'BrienR T Swank
Aug 19, 1997·Proceedings of the National Academy of Sciences of the United States of America·J M GardnerM H Brilliant
Mar 21, 1998·Acta Oto-laryngologica·Y HaradaN Mori
May 19, 1998·Pigment Cell Research·R T SwankL Feng
Mar 2, 1999·Mammalian Genome : Official Journal of the International Mammalian Genome Society·H Thien, U Rüther
Jul 28, 1999·Clinical Genetics·R A Spritz
Oct 6, 1999·The Journal of Cell Biology·J C Stinchcombe, G M Griffiths
Mar 29, 2000·Proceedings of the National Academy of Sciences of the United States of America·J C DetterS F Kingsmore
Jun 22, 2000·Proceedings of the National Academy of Sciences of the United States of America·S M WilsonN A Jenkins
Jul 8, 2000·Trends in Cell Biology·N W Andrews
Oct 21, 2000·Pigment Cell Research·R T SwankL Feng
Mar 30, 2001·Nature Genetics·E Whitelaw, D I Martin
May 2, 2001·Nature Cell Biology·P L McNeil, M Terasaki

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Citations

Dec 11, 2007·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Sudhir PerincheriBrett T Spear
Apr 28, 2004·Hearing Research·Sherri M JonesTimothy A Jones
Jun 6, 2003·Current Opinion in Genetics & Development·Richard A SpritzAsem Alkhateeb
Jan 16, 2009·Molecular Biology of the Cell·Karen Newell-LitwaVictor Faundez
Mar 23, 2013·Genome Génome / Conseil National De Recherches Canada·Lingyan WangToru Shimada
Jan 22, 2010·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Karen Newell-LitwaVictor Faundez
Mar 17, 2012·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Avanti GokhaleVictor Faundez
Nov 28, 2002·Pigment Cell Research·Marjan HuizingWilliam A Gahl
Sep 24, 2002·Seminars in Cell & Developmental Biology·Marta StarcevicEsteban C Dell'Angelica
Nov 26, 2002·The Journal of Investigative Dermatology·Thuyen NguyenMaria L Wei
Oct 16, 2007·Molecular Genetics and Metabolism·Ramin NazarianEsteban C Dell'Angelica
Aug 21, 2007·Journal of Genetics and Genomics = Yi Chuan Xue Bao·Wei LiXin He
Aug 26, 2004·The British Journal of Dermatology·S M TaibjeeC Moss
Jul 21, 2004·Current Opinion in Cell Biology·Esteban C Dell'Angelica
May 16, 2006·Genomics·Babette GwynnLuanne L Peters
Jan 27, 2015·Journal of Genetics and Genomics = Yi Chuan Xue Bao·Yefeng YuanWei Li
Jun 2, 2004·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Wei LiRichard T Swank
Apr 28, 2009·The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry·Rodolfo MazzonciniMirella Ruggeri
Apr 10, 2014·The Journal of Biological Chemistry·Jennifer LarimoreVictor Faundez
May 21, 2003·The Journal of Biological Chemistry·José A MartinaJuan S Bonifacino
Nov 23, 2012·Pigment Cell & Melanoma Research·Ai-Hua Wei, Wei Li
Jun 5, 2003·American Journal of Physiology. Lung Cellular and Molecular Physiology·Timothy A LyerlaRichard T Swank
Apr 24, 2019·Mobile DNA·Liane GagnierDixie L Mager
May 23, 2002·The Journal of Biological Chemistry·Juan M Falcón-PérezEsteban C Dell'Angelica
Jun 23, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Perrine PennamenBenoit Arveiler
Jun 1, 2021·Pigment Cell & Melanoma Research·Zilin ZhongJianjun Chen
Oct 22, 2009·Science Signaling·Pearl V Ryder, Victor Faundez

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