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The defects reflect a composite of some of the Wnt mutant phenotypes and include a deletion of caudal midbrain, axis truncation, and limb patterning defects.
The RDG2A and NB2-RDG2A proteins are 75.3% identical, and differences include a deletion of three consecutive LRRs in NB2-RDG2A (Figure S5).
This process of revision could also include a deletion of repeated indicators and an updating of the MTUHA classification of diseases.
Other smaller deletions detected include a deletion of a probable lipid transfer protein encoding gene Mb1699c, which is specific to 1307/01, and an aldo/keto reductase encoding gene, Mb2320 that is specific to 1121/01.
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As expected, these embryos showed a strong phenotype which included a deletion of the most anterior head structures [7].
The different defective genomes that were characterized included a deletion of either 417 nucleotides in the L (leader protease -coding region, or of 999 or 1017 nucleotides within the caprotease -codingon.
However, that the actual number of the CNVs in the SLC6A3 locus might be much larger; indeed, the annotations to the latest release of Human Genome Assembly (hg19, 2009, UCSC) include references to the multiple deletions of different sizes, including a deletion of 489 nucleotides (dbSNP build 130 rs7130929130
The mutants tested were those relevant to our evolutionary model, including a deletion of N-terminal insertion (αHext−/βA mutant, where amino acids 6 27 have been deleted), a deletion of the proline-rich wrist region insertion (αHPWR−/βA mutant, where amino acids 68 85 have been deleted) or in tandem deletion (αHext-PWR−/βA mutant) (Fig. S4, Table S3).
Rescue constructs included a deletion of the highly conserved YENPTY motif which is known to bind to many different adaptor proteins or mutations of the conserved Thr668 residue (Thr658 in APL-1) which is a phosphorylation site that can regulate the localization and binding partners of APP [19], [20], [21], [22], [23].
These alterations included a deletion of 29 nt starting at the 13th position from the ORF termination codon.
CNVs in families with PD have been reported, including a deletion of the entire PINK1 gene [ 12].
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