Table 2.
Summary of the Genes, Predicted Genes, and Pseudogenes in the CMT1A/HNPP Region
| Group | Gene | UniGene/ESTs accession no. | Exons | Core promoter | Poly-A signal | Kozak consensus | mRNA | Predicted amino acids | Northern/RT-PCR profiles | Domain | Other features |
| Genes | PMP22 | L03203 | 6 | + | + | + | 1716 bp | 160 | |||
| HS3ST3B1 | AF105377 | 2 | + | + | + | 2032 bp | 290 | (Resemberg et al. 1997) | |||
| NPD008/CGI-148 | Hs.6776 | 7 | + | + | + | 1878 bp | 205 | N/ubiqitous | No domain | ||
| TEKT3 | AF334676 | 8 | + | + | + | 1707 bp | 490 | testis | tektin | ||
| CDRT1 | AF337810 | 1 | weak | + | − | 800 bp | 243 | N/pancreas | No domain | ||
| CDRT15 | AF355097 | 3 | weak | + | − | 778 bp | 188 | adult(−) fetus(+) | No domain | ||
| Predicted genes | CDRT2 | No EST | 4 | N/A | + | − | 591 bp | 196 | adult(−) fetus(+) | No domain | |
| CDRT3 | Hs.147742 | 4 | N/A | + | N/A | N/A | N/A | adult(−) fetus(+) | N/A | ||
| CDRT4 | Hs.164595 | >1 | N/A | N/A | >428 bp | >141 | adult(−) fetus(+) | No domain | |||
| CDRT5 | Hs.199583 | 3 | N/A | + | + | 807 bp | 210 | adult(−) fetus(+) | No domain | ||
| CDRT6 | AL037161 | N/A | N/A | N/A | N/A | >653 bp | N/A | adult(−) fetus(+) | N/A | ||
| CDRT7 | Hs.147654 | 3 | N/A | + | N/A | >1035 bp | 179 | N/A | No domain | ||
| CDRT8 | Hs.98684 | N/A | N/A | + | N/A | N/A | N/A | N/pancreas | N/A | ||
| CDRT9 | AI220152 | N/A | N/A | + | N/A | N/A | N/A | N/low ubiqitous | N/A | ||
| CDRT10 | N/A | 4/5 | N/A | + | − | 720/755 bp | 117/150 | N/Sk.muscle | No domain | ||
| CDRT11 | Hs.98605 | >4 | N/A | + | N/A | >878 bp | N/A | N/A | N/A | ||
| CDRT12 | N/A | 7 | N/A | + | + | 2410 bp | 257 | N/low pancreas | No domain | ||
| CDRT13 | N/A | 8 | N/A | + | − | 973 bp | 154 | N/A | No domain | ||
| CDRT14 | AI678032 | >3 | N/A | N/A | N/A | >560 bp | >81 | adult(−) fetus(+) | No domain | ||
| Pseudogenes | CYPAP | Processed/rearranged | |||||||||
| 60SRPL9P | Processed | ||||||||||
| KIAA1164P | Processed/rearranged | ||||||||||
| 60SRPL23AP | Processed | ||||||||||
| 40SRPS18P | Processed | ||||||||||
| KIAA1511P | Processed |
-
Genes, predicted genes, and pseudogenes are listed accordingly. GenBank accession nos. for UniGene (if possible), or one most representative EST, are listed. Core promoter activities, poly-A signals, and functional domains were determined as described in Methods. Northern blotting assay was used primarily for the expresion studies, as noted with a capital N. In cases in which no signal was detected, RT-PCR assays were performed. (N/A) not available for determination.
