Consistent with these observations, mutations in lsy-2 results in the ectopic expression of a set of germ cell-specific genes in somatic cells (Fig. 6E).
Within the oocyte, Poc1 mRNA appeared concentrated in a patchy distribution around the nucleus ( = germinal vesicle) (Figure 2Ab inset), suggesting an association with perinuclear organelles such as mitochondria (see below), as noted also for a set of germ-plasm marker gene mRNAs (Leclère et al, unpublished data).
Hence, using a single set of germ line injections (100 embryos) we correctly integrated the recombination cassette in Mi{MIC}GluRIIE MI01886.
H3K27me3 by contrast was present in a broader set of germ cells with a low level in most spermatogonia and higher expression in round to elongating spermatids.
Single-cell expression profiling confirmed that an authentic ESC-derived germ cell expresses a more coordinated and extensive set of germ cell-specific markers compared with an undifferentiated ESC that may randomly mis-express an occasional marker during culture.
At the small-scale level, when assessing the effect of flanking nucleotides on substitution frequencies, the patterns of all four sets of germ-line genetic variants were highly correlated to MMR-deficient tumors (average R = 0.77), but less to the four other cancer genomes (average R = 0.45; Figure 2B,C), providing further support for our hypothesis.
These proteins may act together to facilitate the expression of a set of genes in germ cells.
We applied PatternCNV to a set of 15 germ line tumor pairs of diffuse large B-cell lymphoma exome-seq data (Lohr et al., 2012).
All other pluripotency-related genes were expressed at either normal or higher levels in Oct4λVP2-rescued cells (Table S1, Figure 3B; also see Figure S7), with a small set of primordial germ cell and pluripotency markers expressed at levels greater than 2-fold above wild-type cells, including Gdf3, Dppa2, Dppa3 (Stella), Eras, Tcfcp2l1, Id3, Fbxo15, Sox15, and Nanog.
The generation of this data set, as well as data sets of male germ cells, female germ cells and staged larvae, have assisted in our general understanding of the genes involved in gamete formation, as well as provided a starting point for more detailed analyses of the specific roles these genes play in the germ line [ 7, 13- 21].
