Literature DB >> 9864865

A new allelic series for the underwhite gene on mouse chromosome 15.

H O Sweet1, M H Brilliant, S A Cook, K R Johnson, M T Davisson.   

Abstract

A new allelic series at the underwhite gene is described. Three of the alleles in the series--uw, uwd, and Uwdbr--arose as spontaneous mutations on different genetic backgrounds at The Jackson Laboratory. We report here the visible phenotypes and dominance hierarchy of these alleles, all of which are defined by a reduction of pigmentation in both eye and coat color. Electron microscopic analysis of retinal epithelium suggests that the primary defect is in the melanosome. The degree of severity of melanosome anomalies in the retina correlates with the degree of hypopigmentation in the coat. The perturbed gene and its gene product are unknown. We show that the uw locus is genetically distinct from Myo10, a suggested candidate gene for this mutation.

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Year:  1998        PMID: 9864865     DOI: 10.1093/jhered/89.6.546

Source DB:  PubMed          Journal:  J Hered        ISSN: 0022-1503            Impact factor:   2.645


  7 in total

1.  Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.

Authors:  J M Newton; O Cohen-Barak; N Hagiwara; J M Gardner; M T Davisson; R A King; M H Brilliant
Journal:  Am J Hum Genet       Date:  2001-09-26       Impact factor: 11.025

2.  Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.

Authors:  Hongmei Nan; Peter Kraft; David J Hunter; Jiali Han
Journal:  Int J Cancer       Date:  2009-08-15       Impact factor: 7.396

3.  Signatures from tissue-specific MPSS libraries identify transcripts preferentially expressed in the mouse inner ear.

Authors:  Linda M Peters; Inna A Belyantseva; Ayala Lagziel; James F Battey; Thomas B Friedman; Robert J Morell
Journal:  Genomics       Date:  2006-10-17       Impact factor: 5.736

4.  Predicting phenotype from genotype: normal pigmentation.

Authors:  Robert K Valenzuela; Miquia S Henderson; Monica H Walsh; Nanibaa' A Garrison; Jessica T Kelch; Orit Cohen-Barak; Drew T Erickson; F John Meaney; J Bruce Walsh; Keith C Cheng; Shosuke Ito; Kazumasa Wakamatsu; Tony Frudakis; Matthew Thomas; Murray H Brilliant
Journal:  J Forensic Sci       Date:  2010-02-11       Impact factor: 1.832

5.  Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.

Authors:  Katsuhiko Inagaki; Tamio Suzuki; Hiroshi Shimizu; Norihisa Ishii; Yoshinori Umezawa; Joji Tada; Noriaki Kikuchi; Minoru Takata; Kenji Takamori; Mari Kishibe; Michi Tanaka; Yoshinori Miyamura; Shiro Ito; Yasushi Tomita
Journal:  Am J Hum Genet       Date:  2004-02-11       Impact factor: 11.025

6.  Putative role of an SLC45 H+/sugar cotransporter in mammalian spermatozoa.

Authors:  Olga Vitavska; Helmut Wieczorek
Journal:  Pflugers Arch       Date:  2017-07-08       Impact factor: 3.657

7.  SLC45A2 protein stability and regulation of melanosome pH determine melanocyte pigmentation.

Authors:  Linh Le; Iliana E Escobar; Tina Ho; Ariel J Lefkovith; Emily Latteri; Kirk D Haltaufderhyde; Megan K Dennis; Lynn Plowright; Elena V Sviderskaya; Dorothy C Bennett; Elena Oancea; Michael S Marks
Journal:  Mol Biol Cell       Date:  2020-09-23       Impact factor: 4.138

  7 in total

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