Human Postsynaptic Density-95 (PSD95): Location of the Gene (DLG4) and Possible Function in Nonneural as Well as in Neural Tissues

• Published in: Genomics (San Diego, Calif.) Vol. 44; no. 1; pp. 71 - 82
• Main Authors: Stathakis, Dean G., Hoover, Kevin B., You, Zhiyong, Bryant, Peter J.
• Format: Journal Article
• Language: English
• Published: San Diego, CA Elsevier Inc 15.08.1997; Elsevier
• Subjects: Adaptor Proteins, Signal Transducing; Amino Acid Sequence; Base Sequence; Biological and medical sciences; Brain - metabolism; Chromosome Mapping; Chromosomes, Human, Pair 17 - genetics; Cloning, Molecular; Disks Large Homolog 4 Protein; DNA Primers; Fundamental and applied biological sciences. Psychology; Genes. Genome; Guanylate Kinases; Humans; Intracellular Signaling Peptides and Proteins; Membrane Proteins; Microsatellite Repeats - genetics; Molecular and cellular biology; Molecular genetics; Molecular Sequence Data; Nerve Tissue Proteins - chemistry; Nerve Tissue Proteins - genetics; Nucleoside-Phosphate Kinase - genetics; Optic Atrophies, Hereditary - genetics; Organ Specificity; Proteins - chemistry; Proteins - genetics; Restriction Mapping; RNA - genetics; RNA - metabolism; Sequence Analysis, DNA; Sequence Homology, Amino Acid; src Homology Domains - genetics; Transcription, Genetic - genetics; Genetic mapping; Human; Membrane protein; Nucleotide sequence; Enzyme; Transferases; Homology; Nervous system; Gene expression; Postsynaptic transmission; Neuron; Gene; Chromosome E17; Guanylate kinase
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1006/geno.1997.4848

We have determined the cDNA sequence, expression pattern, and chromosomal location of the human geneDLG4,encoding the postsynaptic density-95 (PSD95) protein. hPSD95 is a 723-amino-acid protein that is 99% identical to its rodent counterparts. This is the fourth human protein identified as showing significant similarity to theDrosophilatumor suppressor Dlg. These proteins constitute the DLG subfamily of the membrane-associated guanylate kinase protein family. The expression ofDLG4in neural tissue is consistent with the pattern observed for its rat homolog. However,DLG4is also expressed in a wide range of nonneural tissues, suggesting that the protein may have additional roles in humans. Using radiation-hybrid mapping panels, we mapped theDLG4locus to 17p13.1, a region associated with several diseases, the phenotypes of which are consistent with loss of PSD95 function.