While we cannot readily distinguish between these possibilities, we note that both could be mediated by general recombination enzymes, a mechanism which is fundamentally similar to the process whereby short conserved boundary sequences are proposed to contribute to genomic mosaicism [21], [22].
Given the large number of cases examined, and the small number of available ESTs per gene, it remains possible that the evolutionarily conserved boundary is in fact the more commonly used splice site in JEC21 as well.
Partial sequences of rlsA and regA show extensive similarity, including fully conserved exon/intron boundaries.
This conservation includes near complete sets of GATA123 and GATA456 class specific sequence motifs [ 7], and conserved intron/exon boundaries in the gene regions that encode these motifs.
Many of the conserved gene boundaries described above for the four complete vermetid genomes sequenced, even those shared with other caenogastropods, Haliotis, Katharina, and Octopus, were not evident in the partial genomes of V. erectus and Thylaeodus.
Comparisons of the wallaby map to the opossum genome assembly facilitated the delineation of the conserved segment boundaries identified by chromosome painting, and permitted the detection of rearrangements undetected by previous G-banding or chromosome painting.
These analyses identified the conserved exon intron boundaries conforming to the C(C/U G¦CAGC consensus sequence of the splice junctions separated by the non-conventional intron (Figs 1A and EV1A and see [ 20]).
N-acetylgalactosaminyltransferases-6 shows high homology in DNA and amino-acid sequence to GalNAc-T3 throughout the coding region, with identical organisation for nine conserved intron/exon boundaries in the coding regions, and similar kinetic properties that are distinct from other GalNAc-Ts (Schwientek et al, 2002; Ten Hagen et al, 2003; Li et al, 2011).
4 Severe EI has been associated with mutations in the highly conserved helix boundary motifs, the helix initiation and termination peptides and the nonhelical H1 domain of K1 and K10. 3 Mutations in the L1 2 linker of K1 or outside the helix boundary motifs, similar to those seen in mild epidermolysis bullosa simplex, have been described.
There is some genotype phenotype correlation between the dominant-negative mutations in KRT5 that cause EBS; the severe Dowling Meara form is normally due to mutations in the highly conserved helix boundary domains at either end of the rod domain, while mutations throughout the rod domain tend to result in milder forms of EBS.
