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 bp160
HS3ST3B1 AF105377 2+++2032 bp290(Resemberg et al. 1997)
NPD008/CGI-148  Hs.67767+++1878 bp205N/ubiqitousNo domain
TEKT3 AF334676 8+++1707 bp490testistektin
CDRT1 AF337810 1weak+800 bp243N/pancreasNo domain
CDRT15 AF355097 3weak+778 bp188adult(−) fetus(+)No domain
Predicted genes CDRT2 No EST4N/A+591 bp196adult(−) fetus(+)No domain
CDRT3 Hs.1477424N/A+N/AN/AN/Aadult(−) fetus(+)N/A
CDRT4 Hs.164595>1N/AN/A>428 bp>141adult(−) fetus(+)No domain
CDRT5 Hs.1995833N/A++807 bp210adult(−) fetus(+)No domain
CDRT6 AL037161 N/AN/AN/AN/A>653 bpN/Aadult(−) fetus(+)N/A
CDRT7 Hs.1476543N/A+N/A>1035 bp179N/ANo domain
CDRT8 Hs.98684N/AN/A+N/AN/AN/AN/pancreasN/A
CDRT9 AI220152 N/AN/A+N/AN/AN/AN/low ubiqitousN/A
CDRT10 N/A4/5N/A+720/755 bp117/150N/Sk.muscleNo domain
CDRT11  Hs.98605>4N/A+N/A>878 bpN/AN/AN/A
CDRT12 N/A7N/A++2410 bp257N/low pancreasNo domain
CDRT13 N/A8N/A+973 bp154N/ANo domain
CDRT14 AI678032 >3N/AN/AN/A>560 bp>81adult(−) fetus(+)No domain
Pseudogenes CYPAP Processed/rearranged
60SRPL9P Processed
KIAA1164P Processed/rearranged
60SRPL23AP Processed
40SRPS18P Processed
KIAA1511P Processed

[i] 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.