Dataset Information

Genetics of dark skin in mice.

ABSTRACT: Chemical mutagenesis in the mouse is a powerful approach for phenotype-driven genetics, but questions remain about the efficiency with which new mutations ascertained by their phenotype can be localized and identified, and that knowledge applied to a specific biological problem. During a global screen for dominant phenotypes in about 30,000 animals, a novel class of pigmentation mutants were identified by dark skin (Dsk). We determined the genetic map location, homozygous phenotype, and histology of 10 new Dsk and 2 new dark coat (Dcc) mutations, and identified mutations in Agouti (Met1Leu, Dcc4), Sox18 (Leu220ter, Dcc1), Keratin 2e (Thr500Pro, Dsk2), and Egfr (Leu863Gln, Dsk5). Cutaneous effects of most Dsk mutations are limited to melanocytes, except for the Keratin 2e and Egfr mutations, in which hyperkeratosis and epidermal thickening precede epidermal melanocytosis by 3-6 wk. The Dsk2 mutation is likely to impair intermediate filament assembly, leading to cytolysis of suprabasal keratinocytes and secondary hyperkeratosis and melanocytosis. The Dsk5 mutation causes increased tyrosine kinase activity and a decrease in steady-state receptor levels in vivo. The Dsk mutations represent genes or map locations not implicated previously in pigmentation, and delineate a developmental pathway in which mutations can be classified on the basis of body region, microscopic site, and timing of pigment accumulation.

SUBMITTER: Fitch KR

PROVIDER: S-EPMC195979 | biostudies-literature | 2003 Jan

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Genetics of dark skin in mice.

Fitch Karen R KR McGowan Kelly A KA van Raamsdonk Catherine D CD Fuchs Helmut H Lee Daekee D Puech Anne A Hérault Yann Y Threadgill David W DW Hrabé de Angelis Martin M Barsh Gregory S GS

Genes & development 20030101 2

Chemical mutagenesis in the mouse is a powerful approach for phenotype-driven genetics, but questions remain about the efficiency with which new mutations ascertained by their phenotype can be localized and identified, and that knowledge applied to a specific biological problem. During a global screen for dominant phenotypes in about 30,000 animals, a novel class of pigmentation mutants were identified by dark skin (Dsk). We determined the genetic map location, homozygous phenotype, and histolog ...[more]

PMID: 12533510

Similar Datasets

Project description:Despite their great potential, medium and deep trichloroacetic acid peels are underused in light-skinned patients and are rarely used in darker-skinned patients because of the widespread fear of pigmentary complications and scarring. This concern has led many physicians to opt for the use of lighter types of peels (glycolic acid peel, Jessner peel, etc) and different lasers and intense light technologies. Trichloroacetic acid peels have been described in numerous publications. However, no study to date has described the precise technique and the practical pearls of a successful trichloroacetic acid peel approach in a clear, detailed, and reproducible manner.To clarify a practical approach to a universal trichloroacetic acid peel and to offer novice and experienced facial plastic surgeons an organized, easy, and safe technique for medium and deep trichloroacetic acid peels.This study was a case series of universal trichloroacetic acid peels in an academic setting. The study dates were January 1, 1996, to November 1, 2015.This article discusses the preoperative evaluation for a chemical peel, a previously published genetico-racial skin classification, and the trichloroacetic acid peel technique, which aims at standardizing and controlling the application of the acid to improve results and lessen complications. The "strip" technique is described, which increases the physician's control over the peel depth.A total of 923 trichloroacetic acid peels in 803 female patients (87.0%) and 120 male patients (13.0%) were reviewed (mean age, 41.59 years). The follow-up period ranged from 6 months to 13 years (mean, 13 months). This case series revealed a low incidence of complications, including 54 patients (5.9%) with persistent hyperpigmentation, 3 patients (0.3%) with mild telangiectasia, 2 patients (0.2%) with acute herpesvirus infection, 2 patients (0.2%) with bacterial Staphylococcus infection, and 1 patient (0.1%) with hypopigmentation.When properly applied, trichloroacetic acid peels are efficient and safe for light and dark skin. The technique can be an easily implementable addition to a physician's cosmetic practice.4.

Dataset Information

Genetics of dark skin in mice.

Publications

Genetics of dark skin in mice.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets