A splice variant of the TATA-box binding protein encoding the polyglutamine-containing N-terminal domain that accumulates in Alzheimer's disease.
Previously we have reported the accumulation of an N-terminal fragment of the TATA-box binding protein (TBP) in Alzheimer's disease brain tissue and here we report the identification of a naturally occurring TBP splice variant as a likely mechanism for its production. The splice variant described here encodes the polyglutamine-containing N-terminal domain of this key transcription factor. We demonstrate the expression of the splice variant mRNA in a variety of human tissues and that the resulting protein forms inclusions in cell culture transfection studies. The unusual properties of the variant protein suggest that it may be functionally relevant in late onset neurodegenerative diseases.
Reid
Suzanne J
SJ
School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland, New Zealand.
Whittaker
David J
DJ
School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland, New Zealand.
Greenwood
Denise
D
School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland, New Zealand.
Snell
Russell G
RG
School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland, New Zealand. Electronic address: r.snell@auckland.ac.nz.
D000544:Alzheimer Disease / Q000235:genetics / Q000378:metabolism*; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001921:Brain / Q000378:metabolism*; D002417:Cattle; D002460:Cell Line; D045744:Cell Line, Tumor; D002467:Cell Nucleus / Q000378:metabolism; D017124:Conserved Sequence; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D009474:Neurons / Q000378:metabolism / Q000473:pathology; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism; D012333:RNA, Messenger / Q000378:metabolism; D035181:TATA-Box Binding Protein / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*
D020033:Protein Isoforms; D012333:RNA, Messenger; D035181:TATA-Box Binding Protein