Smchd1 regulates a subset of autosomal genes subject to monoallelic expression in addition to being critical for X inactivation.

ABSTRACT:

Background

Smchd1 is an epigenetic modifier essential for X chromosome inactivation: female embryos lacking Smchd1 fail during midgestational development. Male mice are less affected by Smchd1-loss, with some (but not all) surviving to become fertile adults on the FVB/n genetic background. On other genetic backgrounds, all males lacking Smchd1 die perinatally. This suggests that, in addition to being critical for X inactivation, Smchd1 functions to control the expression of essential autosomal genes.

Results

Using genome-wide microarray expression profiling and RNA-seq, we have identified additional genes that fail X inactivation in female Smchd1 mutants and have identified autosomal genes in male mice where the normal expression pattern depends upon Smchd1. A subset of gene

SUBMITTER: Mould AW 

PROVIDER: S-EPMC3707822 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature