Isolation and characterization of APLP2 encoding a homologue of the Alzheimer's associated amyloid beta protein precursor.
Familial Alzheimer's disease (FAD) is a genetically heterogeneous disorder that includes a rare early-onset form linked to mutations in the amyloid b protein precursor (APP) gene. Clues to the function of APP derive from the recent finding that it is a member of a highly conserved protein family that includes the mammalian amyloid precursor-like protein (APLP1) gene which maps to the same general region of human chromosome 19 linked to late-onset FAD. Here we report the isolation of the human APLP2 gene. We show that APLP2 is a close relative of APP and exhibits a very similar pattern of expression in the brain and throughout the body. Like APP, APLP2 contains a cytoplasmic domain predicted to couple with the GTP-binding protein G(o) indicating that it may be an additional cell surface activator of this G protein.
Wasco
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Laboratory of Genetics and Aging, Massachusetts General Hospital, Charlestown 02129.
Gurubhagavatula
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S
Paradis
M D
MD
Romano
D M
DM
Sisodia
S S
SS
Hyman
B T
BT
Neve
R L
RL
Tanzi
R E
RE
D000544:Alzheimer Disease / Q000235:genetics*; D000595:Amino Acid Sequence; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D001923:Brain Chemistry; D019204:GTP-Binding Proteins / Q000378:metabolism; D005786:Gene Expression Regulation; D005796:Genes; D006801:Humans; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D009928:Organ Specificity; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid
C489697:APLP1 protein, human; C084104:APLP2 protein, human; D016564:Amyloid beta-Protein Precursor; D009419:Nerve Tissue Proteins; D019204:GTP-Binding Proteins