Previously me reported the amplification of the peripheral myelin protein 2
2 (PMP22) gene in cell lines of human osteogenic and glioma tumors. PMP22 n
ormally is expressed at high levels in Schwann cells of the peripheral nerv
ous system and is suggested to function as a structural protein of the myel
in sheath. One of the most common inherited peripheral neuropathies, Charco
t-Marie-Tooth Type 1A (CMT1A), is associated with a duplication of a 1.5-Mb
DNA region on chromosome 17p11.2-p12 containing PMP22. On the other hand,
PMP22 is identical to gas3, whose expression is induced in growth-arresting
NIH3T3-fibroblasts and is thought to play a role in cell proliferation. Th
e precise role of gas3/PMP22 remains to be determined, Here we show that in
the tumor cell lines RH30 and SF763 the amplified region including PMP22 c
omprises the whole 1.5-Mb CMT1A region. We could prove expression of PMP22
by reverse transcriptase-polymerase chain reaction (RT-PCR) and discovered
an unusual PMP22 transcript in these tumor cell lines. Western blot analyse
s resulted in detection of a 22-kDa protein by the PMP22-specific antibody
558/2 and in exclusion of myelin protein zero (MPZ) expression in these cel
l lines. (C) 1999 Wiley-Liss, Inc.