In addition, single nucleotide polymorphism analysis of expressed genes in the placenta shows that the Igf2r imprinted gene cluster is also disrupted, with Slc22a3 showing biallelic expression in the absence of Smchd1. In both cases, the disruption was not due to loss of the differential ...
The majority of MVA cases are linked to mutations in BUBR1, a mitotic checkpoint gene required for proper chromosome segregation. Affected patients either have bi-allelic BUBR1 mutations, with one allele harboring a missense mutation and the other a nonsense mutation, or mono-allelic BUBR1 ...
Smchd1 (structural maintenance of chromosomes hinge domain containing 1) was identified as a semidominant suppressor of variegation in an N-ethyl-N-nitrosourea (ENU) mutagenesis screen for epigenetic modifiers [30]. The ENU derived mutant allele, named MommeD1, resulted from a nonsense mutation in...