Genic constraint against nonsynonymous variation across the mouse genome.

ABSTRACT:

Background

Selective constraint, the depletion of variation due to negative selection, provides insights into the functional impact of variants and disease mechanisms. However, its characterization in mice, the most commonly used mammalian model, remains limited. This study aims to quantify mouse gene constraint using a new metric called the nonsynonymous observed expected ratio (NOER) and investigate its relationship with gene function.

Results

NOER was calculated using whole-genome sequencing data from wild mouse populations (Mus musculus sp and Mus spretus). Positive correlations were observed between mouse gene constraint and the number of associated knockout phenotypes, indicating stronger constraint on pleiotropic genes. Furthermore, mouse gene constraint showed a posi

SUBMITTER: Powell G 

PROVIDER: S-EPMC10514939 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature