Quantitative Trait Locus and Integrative Genomics Revealed Candidate Modifier Genes for Ectopic Mineralization in Mouse Models of Pseudoxanthoma Elasticum

Pseudoxanthoma elasticum (PXE), a prototype of heritable multi-system ectopic mineralization disorders, is caused by mutations in the ABCC6 gene encoding a putative efflux transporter, ABCC6. The phenotypic spectrum of PXE varies, and the correlation between genotype and phenotype has not been established. To identify genetic modifiers, we performed quantitative trait locus analysis in inbred mouse strains that carry the same hypomorphic allele in Abcc6 yet with highly variable ectopic mineralization phenotypes of PXE.

Source: Journal of Investigative Dermatology - June 13, 2019 Category: Dermatology Authors: Qiaoli Li, Vivek M. Philip, Timothy M. Stearns, Jason A. Bubier, Benjamin L. King, Benjamin E. Low, Michael V. Wiles, Amir Hossein Saeidian, Beth A. Sundberg, Jouni Uitto, John P. Sundberg Tags: Original Article Source Type: research