Uncovering Modifier Genes of X-Linked Alport Syndrome Using a Novel Multiparent Mouse Model.

ABSTRACT:

Background

Mutations in COL4A5 are responsible for 80% of cases of X-linked Alport Syndrome (XLAS). Although genes that cause AS are well characterized, people with AS who have similar genetic mutations present with a wide variation in the extent of kidney impairment and age of onset, suggesting the activities of modifier genes.

Methods

We created a cohort of genetically diverse XLAS male and female mice using the Diversity Outbred mouse resource and measured albuminuria, GFR, and gene expression. Using a quantitative trait locus approach, we mapped modifier genes that can best explain the underlying phenotypic variation measured in our diverse population.

Results

Genetic analysis identified several loci associated with the variation in albuminuria and GFR, inc

SUBMITTER: Takemon Y 

PROVIDER: S-EPMC8455275 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature