Literature DB >> 10998130

The underwhite (uw) locus acts autonomously and reduces the production of melanin.

A L Lehman1, W K Silvers, N Puri, K Wakamatsu, S Ito, M H Brilliant.   

Abstract

The mouse has provided several significant models for hypopigmentation disorders, including the major forms of albinism. Mutations at the mouse underwhite locus confer one of the most severe hypopigmentation phenotypes, similar to mutations at the pink-eyed dilution locus that is a model for type 2 oculocutaneous albinism. A melanocyte cell line established from underwhite mutant mice failed to pigment under conditions that support pigment production in wild-type melanocytes and melanoblasts from underwhite skin graft transplants failed to produce melanin in normal skin, demonstrating that the action of the gene encoded by the underwhite locus is intrinsic to melanocytes. Mice with mutations at the underwhite locus and either the pink-eyed dilution locus or the melanocortin receptor 1 locus exhibited more severe hypopigmentation than either mutation alone, suggesting that the actions of these genes are independent. These results demonstrate that the underwhite locus is a major determinant of mammalian pigmentation.

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Year:  2000        PMID: 10998130     DOI: 10.1046/j.1523-1747.2000.00107.x

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN: 0022-202X            Impact factor:   8.551


  9 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.  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

Review 3.  Ion transport in pigmentation.

Authors:  Nicholas W Bellono; Elena V Oancea
Journal:  Arch Biochem Biophys       Date:  2014-07-14       Impact factor: 4.013

4.  Mapping of the domestic cat "SILVER" coat color locus identifies a unique genomic location for silver in mammals.

Authors:  Marilyn Menotti-Raymond; Victor A David; Eduardo Eizirik; Melody E Roelke; Helya Ghaffari; Stephen J O'Brien
Journal:  J Hered       Date:  2009-04-27       Impact factor: 2.645

5.  Mapping of the Faded (fe) Gene to a Region between D10mit191 and D10mit44 on Mouse Chromosome 10.

Authors:  Seung-Hun Oh; Yoonyi Nam; Jun-Gyo Suh
Journal:  Lab Anim Res       Date:  2011-03-25

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.  The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis.

Authors:  Francesco Vetrini; Alberto Auricchio; Jinyan Du; Barbara Angeletti; David E Fisher; Andrea Ballabio; Valeria Marigo
Journal:  Mol Cell Biol       Date:  2004-08       Impact factor: 4.272

8.  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

9.  Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle.

Authors:  Sophie Rothammer; Elisabeth Kunz; Doris Seichter; Stefan Krebs; Martina Wassertheurer; Ruedi Fries; Gottfried Brem; Ivica Medugorac
Journal:  Genet Sel Evol       Date:  2017-10-05       Impact factor: 4.297

  9 in total

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