Abstract：
:SORL1 encodes a 250-kDa protein named sorLA, a functional sorting receptor for the amyloid precursor protein (APP). Several single nucleotide polymorphisms of the gene SORL1, encoding sorLA, are genetically associated with Alzheimer's disease (AD). In the existing literature, SORL1 is insufficiently described at the transcriptional level, and there is very limited amount of functional data defining different transcripts. We have characterized a SORL1 transcript containing a novel exon 30B. The transcript is expressed in most brain regions with highest expression in the temporal lobe and hippocampus. Exon 30B is spliced to exon 31, leading to a mature transcript that encodes an 829 amino acid sorLA receptor. This receptor variant lacks the binding site for APP and is unlikely to function in APP sorting. This transcript is expressed in equal amounts in the cerebellum from AD and non-AD individuals. Our data describe a transcript that encodes a truncated sorLA receptor, suggesting novel neuronal functions for sorLA and that alternative transcription provides a mechanism for SORL1 activity regulation.
journal_name
Neurobiol Agingjournal_title
Neurobiology of agingauthors
Blechingberg J,Poulsen ASA,Kjølby M,Monti G,Allen M,Ivarsen AK,Lincoln SJ,Thotakura G,Vægter CB,Ertekin-Taner N,Nykjær A,Andersen OMdoi
10.1016/j.neurobiolaging.2018.06.021subject
Has Abstractpub_date
2018-11-01 00:00:00pages
266.e11-266.e24eissn
0197-4580issn
1558-1497pii
S0197-4580(18)30226-4journal_volume
71pub_type
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