Smy. Lee et al., Characterization of a brain-specific nuclear LIM domain protein (FHL1B) which is an alternatively spliced variant of FHL1, GENE, 237(1), 1999, pp. 253-263
We have amplified and sequenced a novel, alternatively spliced variant of a
human gene coding for the four-and-a-half LIM domain protein 1 (FHL1). Thi
s gene is located at chromosome Xq27 and the spliced variant is named FHL1B
. The ORF of FHL1B cDNA codes for a LIM-only protein that possesses a zinc
finger and three tandem repeats of LIM domains at the N-terminus with an ac
tive bipartite nuclear localization signal (NLS) motif and a possible RBP-J
binding region at the C-terminus. FHL1B and FHL1 have the same N-terminal
three-and-a-half LIM domains but different C-terminal protein sequences, du
e to the presence of an additional alternative exon 4b in FHL1B causing a f
rame-shift in the 3'coding region. RT-PCR results revealed that the express
ion of FHL1 is not restricted in skeletal muscle and heart, but is widely d
istributed in other tissues, including brain, placenta, lung, liver, kidney
and pancreas, albeit as a low abundance transcript. In contrast, FHL1B is
specifically expressed in brain. The C-terminal alternative region in FHL1B
is sufficient to localize FHL1B in the nucleus of mammalian cell. FHL1B is
probably related to neural differentiation and certain fragile X syndrome.
(C) 1999 Elsevier Science B.V. All rights reserved.