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Details van artikel 6 van 12 gevonden artikelen
| Titel: |
Characterization of the human α-synuclein gene: Genomic structure, transcription start site, promoter region and polymorphisms |
| Auteur: |
Xia, Yu Saitoh, Tsunao Uéda, Kenji Tanaka, Seigo Chen, Xiaohua Hashimoto, Makoto Hsu, Leigh Conrad, Chris Sundsmo, Mary Yoshimoto, Makoto Thal, Leon Katzman, Robert Masliah, Eliezer |
| Verschenen in: |
Journal of Alzheimer's disease |
| Paginering: | Jaargang 3 (2001) nr. 5 pagina's 485-494 |
| Jaar: |
2001-10-16 |
| Inhoud: |
The human NACP/α-synuclein gene has been cloned. This gene consists of 6 exons ranging in size from 42 to 1110 bp. The translation start codon ATG is encoded by exon 2 and the stop codon TAA is encoded by exon 6. The non-Aβ component of Alzheimer’s disease amyloid (NAC) is encoded by exon 4. The two previously reported minor isoforms of NACP/α-synuclein, NACP112 [29] and NACP126 [6], are alternatively spliced products, in which exon 5 and exon 3 are spliced out, respectively. Exon 1 was found to have different splicing sites, producing different 5’-untranslated sequences in the cDNAs. A previously reported dinucleotide repeat polymorphic marker has been mapped to 8kb upstream of the transcription start site. A highly TC-rich sequence in intron 4 was found to be polymorphic by length and four alleles, A0, A1, A2 and B have been identified in the Caucasian population. Genotyping this polymorphism among pure Alzheimer’s, Lewy body variant and Parkinson’s subjects and aged normal control subjects did not reveal any significant differences. |
| Uitgever: |
IOS Press |
| Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
Details van artikel 6 van 12 gevonden artikelen
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