Dh. Gutmann et al., EXPRESSION OF THE NEUROFIBROMATOSIS-2 (NF2) GENE ISOFORMS DURING RAT EMBRYONIC-DEVELOPMENT, Human molecular genetics, 4(3), 1995, pp. 471-478
The neurofibromatosis 2 (NF2) gene product, merlin, encodes a 595 amin
o acid protein with sequence similarity to a family of proteins linkin
g cell membrane proteins to the cytoskeleton. Two isoforms of merlin h
ave been described which differ by the presence (type 2 merlin) or abs
ence (type 1 merlin) of exon 16 sequences inserted into the extreme ca
rboxyl terminus of the protein. To determine the role of this importan
t negative growth regulator during normal embryonic development, the e
xpression of these two merlin isoforms was examined at representative
stages of rat embryogenesis and in adult tissues. Partial sequence ana
lysis of the rat merlin gene demonstrated striking amino acid identity
to the published mouse and human merlin gene sequences. In situ hybri
dization and RT-PCR analyses demonstrated that rat merlin is widely ex
pressed during embryogenesis and early postnatal life in most tissues
but becomes restricted to the brainstem, cerebellum, dorsal root gangl
ia, spinal cord, adrenal gland and testis in adult animals. The elucid
ation of the pattern of merlin gene expression in adult and embryonic
tissues provides the foundations for future studies aimed at determini
ng the function(s) of this protein during cell differentiation and emb
ryonic development.