Literature DB >> 19202056

Mice with mutations of Dock7 have generalized hypopigmentation and white-spotting but show normal neurological function.

Amanda L Blasius1, Katharina Brandl, Karine Crozat, Yu Xia, Kevin Khovananth, Philippe Krebs, Nora G Smart, Antonella Zampolli, Zaverio M Ruggeri, Bruce A Beutler.   

Abstract

The classical recessive coat color mutation misty (m) arose spontaneously on the DBA/J background and causes generalized hypopigmentation and localized white-spotting in mice, with a lack of pigment on the belly, tail tip, and paws. Here we describe moonlight (mnlt), a second hypopigmentation and white-spotting mutation identified on the C57BL/6J background, which yields a phenotypic copy of m/m coat color traits. We demonstrate that the 2 mutations are allelic. m/m and mnlt/mnlt phenotypes both result from mutations that truncate the dedicator of cytokinesis 7 protein (DOCK7), a widely expressed Rho family guanine nucleotide exchange factor. Although Dock7 is transcribed at high levels in the developing brain and has been implicated in both axon development and myelination by in vitro studies, we find no requirement for DOCK7 in neurobehavioral function in vivo. However, DOCK7 has non-redundant role(s) related to the distribution and function of dermal and follicular melanocytes.

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Year:  2009        PMID: 19202056      PMCID: PMC2650330          DOI: 10.1073/pnas.0813208106

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN: 0027-8424            Impact factor:   11.205


  40 in total

1.  Differential responses to nerve growth factor and epidermal growth factor in neurite outgrowth of PC12 cells are determined by Rac1 activation systems.

Authors:  H Yasui; H Katoh; Y Yamaguchi; J Aoki; H Fujita; K Mori; M Negishi
Journal:  J Biol Chem       Date:  2001-01-31       Impact factor: 5.157

2.  Mapping of PCR-based markers for mouse chromosome 4 on a backcross penetrant for the misty (m) mutation.

Authors:  F T Fiedorek; E S Kay
Journal:  Mamm Genome       Date:  1994-08       Impact factor: 2.957

3.  The murine misty mutation: phenotypic effects on melanocytes, platelets and brown fat.

Authors:  E V Sviderskaya; E K Novak; R T Swank; D C Bennett
Journal:  Genetics       Date:  1998-01       Impact factor: 4.562

Review 4.  GEF means go: turning on RHO GTPases with guanine nucleotide-exchange factors.

Authors:  Kent L Rossman; Channing J Der; John Sondek
Journal:  Nat Rev Mol Cell Biol       Date:  2005-02       Impact factor: 94.444

5.  CD4+ T-cell help controls CD8+ T-cell memory via TRAIL-mediated activation-induced cell death.

Authors:  Edith M Janssen; Nathalie M Droin; Edward E Lemmens; Michael J Pinkoski; Steven J Bensinger; Benjamin D Ehst; Thomas S Griffith; Douglas R Green; Stephen P Schoenberger
Journal:  Nature       Date:  2005-03-03       Impact factor: 49.962

6.  Linkage analysis of the murine interferon alpha locus (Ifa) on chromosome 4.

Authors:  E De Maeyer; F Dandoy
Journal:  J Hered       Date:  1987 May-Jun       Impact factor: 2.645

Review 7.  Spotlight on spotted mice: a review of white spotting mouse mutants and associated human pigmentation disorders.

Authors:  Laura L Baxter; Ling Hou; Stacie K Loftus; William J Pavan
Journal:  Pigment Cell Res       Date:  2004-06

8.  Toll-like receptors 9 and 3 as essential components of innate immune defense against mouse cytomegalovirus infection.

Authors:  Koichi Tabeta; Philippe Georgel; Edith Janssen; Xin Du; Kasper Hoebe; Karine Crozat; Suzanne Mudd; Louis Shamel; Sosathya Sovath; Jason Goode; Lena Alexopoulou; Richard A Flavell; Bruce Beutler
Journal:  Proc Natl Acad Sci U S A       Date:  2004-03-01       Impact factor: 11.205

9.  Regulation of microtubule destabilizing activity of Op18/stathmin downstream of Rac1.

Authors:  Torsten Wittmann; Gary M Bokoch; Clare M Waterman-Storer
Journal:  J Biol Chem       Date:  2003-11-26       Impact factor: 5.157

10.  Requirement for natural killer cell-produced interferon gamma in defense against murine cytomegalovirus infection and enhancement of this defense pathway by interleukin 12 administration.

Authors:  J S Orange; B Wang; C Terhorst; C A Biron
Journal:  J Exp Med       Date:  1995-10-01       Impact factor: 14.307

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  18 in total

1.  Sensory nerve induced inflammation contributes to heterotopic ossification.

Authors:  Elizabeth Salisbury; Eric Rodenberg; Corinne Sonnet; John Hipp; Francis H Gannon; Tegy J Vadakkan; Mary E Dickinson; Elizabeth A Olmsted-Davis; Alan R Davis
Journal:  J Cell Biochem       Date:  2011-10       Impact factor: 4.429

Review 2.  Research Techniques Made Simple: Forward Genetic Screening to Uncover Genes Involved in Skin Biology.

Authors:  William McAlpine; Jamie Russell; Anne R Murray; Bruce Beutler; Emre Turer
Journal:  J Invest Dermatol       Date:  2019-09       Impact factor: 8.551

Review 3.  Brown adipose tissue and bone.

Authors:  M E Lidell; S Enerbäck
Journal:  Int J Obes Suppl       Date:  2015-08-04

4.  Spontaneous mutation of Dock7 results in lower trabecular bone mass and impaired periosteal expansion in aged female Misty mice.

Authors:  Phuong T Le; Kathleen A Bishop; David E Maridas; Katherine J Motyl; Daniel J Brooks; Kenichi Nagano; Roland Baron; Mary L Bouxsein; Clifford J Rosen
Journal:  Bone       Date:  2017-08-15       Impact factor: 4.398

5.  Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.

Authors:  Ranad Shaheen; Eissa Faqeih; Asma Sunker; Heba Morsy; Tarfa Al-Sheddi; Hanan E Shamseldin; Nouran Adly; Mais Hashem; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2011-08-04       Impact factor: 11.025

Review 6.  Heterotopic ossification has some nerve.

Authors:  Elizabeth Salisbury; Corinne Sonnet; Michael Heggeness; Alan R Davis; Elizabeth Olmsted-Davis
Journal:  Crit Rev Eukaryot Gene Expr       Date:  2010       Impact factor: 1.807

7.  Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

Authors:  Isabelle Perrault; Fadi F Hamdan; Marlène Rio; José-Mario Capo-Chichi; Nathalie Boddaert; Jean-Claude Décarie; Bruno Maranda; Rima Nabbout; Michel Sylvain; Anne Lortie; Philippe P Roux; Elsa Rossignol; Xavier Gérard; Giulia Barcia; Patrick Berquin; Arnold Munnich; Guy A Rouleau; Josseline Kaplan; Jean-Michel Rozet; Jacques L Michaud
Journal:  Am J Hum Genet       Date:  2014-05-08       Impact factor: 11.025

8.  Atypical angiopoietin-like protein that regulates ANGPTL3.

Authors:  Fabiana Quagliarini; Yan Wang; Julia Kozlitina; Nick V Grishin; Rhonda Hyde; Eric Boerwinkle; David M Valenzuela; Andrew J Murphy; Jonathan C Cohen; Helen H Hobbs
Journal:  Proc Natl Acad Sci U S A       Date:  2012-11-12       Impact factor: 11.205

9.  Altered thermogenesis and impaired bone remodeling in Misty mice.

Authors:  Katherine J Motyl; Kathleen A Bishop; Victoria E DeMambro; Sheila A Bornstein; Phuong Le; Masanobu Kawai; Sutada Lotinun; Mark C Horowitz; Roland Baron; Mary L Bouxsein; Clifford J Rosen
Journal:  J Bone Miner Res       Date:  2013-09       Impact factor: 6.741

10.  DOCK7 interacts with TACC3 to regulate interkinetic nuclear migration and cortical neurogenesis.

Authors:  Yu-Ting Yang; Chia-Lin Wang; Linda Van Aelst
Journal:  Nat Neurosci       Date:  2012-07-29       Impact factor: 24.884

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