Genomic organization and expression of the human beta-synuclein gene (SNCB).
The beta-synuclein protein is highly homologous to the alpha-synuclein protein for which two mutations were reported in some familial cases of Parkinson disease. It has been shown that both alpha- and beta-synucleins may be able to inhibit phospholipase D2 selectively. We have observed that the beta-synuclein gene (HGMW-approved symbol, SNCB) is highly expressed in brain including the substantia nigra, the main region of neuronal degeneration in patients with Parkinson disease. We have determined the intron-exon structure of the beta-synuclein gene and established sequencing assays that will facilitate the search for mutations in the beta-synuclein gene in patients with Parkinson disease or other neurodegenerative disorders.
Lavedan
C
C
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, 20892, USA.
Leroy
E
E
Torres
R
R
Dehejia
A
A
Dutra
A
A
Buchholtz
S
S
Nussbaum
R L
RL
Polymeropoulos
M H
MH
D000595:Amino Acid Sequence; D001483:Base Sequence; D001921:Brain / Q000378:metabolism*; D018076:DNA, Complementary; D005091:Exons / Q000235:genetics; D015870:Gene Expression; D006801:Humans; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000737:chemistry / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D051843:Synucleins; D051844:alpha-Synuclein; D051846:beta-Synuclein
D018076:DNA, Complementary; D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; C497607:SNCB protein, human; D051843:Synucleins; D051844:alpha-Synuclein; D051846:beta-Synuclein