A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy.
Journal Article (Journal Article)
Haploinsufficiency for the transcription factor SOX10 is associated with the pigmentary deficiencies of Waardenburg syndrome (WS) and is modeled in Sox10 haploinsufficient mice (Sox10(LacZ/+)). As genetic background affects WS severity in both humans and mice, we established an N-ethyl-N-nitrosourea (ENU) mutagenesis screen to identify modifiers that increase the phenotypic severity of Sox10(LacZ/+) mice. Analysis of 230 pedigrees identified three modifiers, named modifier of Sox10 neurocristopathies (Mos1, Mos2 and Mos3). Linkage analysis confirmed their locations on mouse chromosomes 13, 4 and 3, respectively, within regions distinct from previously identified WS loci. Positional candidate analysis of Mos1 identified a truncation mutation in a hedgehog(HH)-signaling mediator, GLI-Kruppel family member 3 (Gli3). Complementation tests using a second allele of Gli3 (Gli3(Xt-J)) confirmed that a null mutation of Gli3 causes the increased hypopigmentation in Sox10(LacZ/+);Gli3(Mos1/)(+) double heterozygotes. Early melanoblast markers (Mitf, Sox10, Dct, and Si) are reduced in Gli3(Mos1/)(Mos1) embryos, indicating that loss of GLI3 signaling disrupts melanoblast specification. In contrast, mice expressing only the GLI3 repressor have normal melanoblast specification, indicating that the full-length GLI3 activator is not required for specification of neural crest to the melanocyte lineage. This study demonstrates the feasibility of sensitized screens to identify disease modifier loci and implicates GLI3 and other HH signaling components as modifiers of human neurocristopathies.
Full Text
Duke Authors
Cited Authors
- Matera, I; Watkins-Chow, DE; Loftus, SK; Hou, L; Incao, A; Silver, DL; Rivas, C; Elliott, EC; Baxter, LL; Pavan, WJ
Published Date
- July 15, 2008
Published In
Volume / Issue
- 17 / 14
Start / End Page
- 2118 - 2131
PubMed ID
- 18397875
Pubmed Central ID
- PMC2902284
Electronic International Standard Serial Number (EISSN)
- 1460-2083
Digital Object Identifier (DOI)
- 10.1093/hmg/ddn110
Language
- eng
Conference Location
- England