Dg. Stathakis et al., HUMAN POSTSYNAPTIC DENSITY-95 (PSD95) - LOCATION OF THE GENE (DLG4) AND POSSIBLE FUNCTION IN NONNEURAL AS WELL AS IN NEURAL TISSUES, Genomics, 44(1), 1997, pp. 71-82
We have determined the cDNA sequence, expression pattern, and chromoso
mal location of the human gene DLG4, encoding the postsynaptic density
-95 (PSD95) protein. hPSD95 is a 723-amino-acid protein that is 99% id
entical to its rodent counterparts. This is the fourth human protein i
dentified as showing significant similarity to the Drosophila tumor su
ppressor Dig. These proteins constitute the DLG; subfamily of the memb
rane-associated guanylate kinase protein family. The expression of DLG
4 in neural tissue is consistent with the pattern observed for its rat
homolog. However, DLG4 is also expressed in a wide range of nonneural
tissues, suggesting that the protein may have additional roles in hum
ans. Using radiation-hybrid mapping panels, we mapped the DLG4 locus t
o 17p13.1, a region associated with several diseases, the phenotypes o
f which are consistent with loss of PSD95 function. (C) 1997 Academic
Press.