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Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene.

Publication ,  Journal Article
Chiba-Falek, O; Touchman, JW; Nussbaum, RL
Published in: Hum Genet
October 2003

NACP-Rep1, a polymorphic microsatellite upstream of the alpha-synuclein gene ( SNCA), consisting of the nucleotides (TC)(x)(T)(2)(TC)(y)(TA)(z)(CA)(w), has five alleles originally defined by 2-bp differences in (CA)(w). Different NACP-Rep1 alleles have been associated with sporadic Parkinson's disease in some, but not all, studies and can effect expression driven by the SNCA promoter over a three-fold range in the neuroblastoma cell line, SH-SY5Y. By analyzing children in CEPH families in which parents appeared to be homozygous for a NACP-Rep1 allele, we found that there are sequence differences within same-sized NACP-Rep1 alleles, contributed mainly by variation of the (TC)(y)(TA)(z) portion of the microsatellite repeat. To test whether these sequence differences might impact on promoter function we determined the effect of two sequence variant alleles, both of size "1", using the luciferase reporter system. There was only a very small expression difference between these two variant alleles. This finding implies that the overall length of the NACP-Rep1 allele plays the main role in the transcription regulation by the NACP-Rep1 element and suggests that functional differences due to sequence heterogeneity within NACP-Rep1 alleles of the same length are probably not confounding factors in association studies based on alleles defined by length.

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Published In

Hum Genet

DOI

ISSN

0340-6717

Publication Date

October 2003

Volume

113

Issue

5

Start / End Page

426 / 431

Location

Germany

Related Subject Headings

  • alpha-Synuclein
  • Tumor Cells, Cultured
  • Transfection
  • Synucleins
  • Pedigree
  • Neuroblastoma
  • Nerve Tissue Proteins
  • Molecular Sequence Data
  • Microsatellite Repeats
  • Male
 

Citation

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ICMJE
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Chiba-Falek, O., Touchman, J. W., & Nussbaum, R. L. (2003). Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene. Hum Genet, 113(5), 426–431. https://doi.org/10.1007/s00439-003-1002-9
Chiba-Falek, Ornit, Jeffrey W. Touchman, and Robert L. Nussbaum. “Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene.Hum Genet 113, no. 5 (October 2003): 426–31. https://doi.org/10.1007/s00439-003-1002-9.
Chiba-Falek O, Touchman JW, Nussbaum RL. Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene. Hum Genet. 2003 Oct;113(5):426–31.
Chiba-Falek, Ornit, et al. “Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene.Hum Genet, vol. 113, no. 5, Oct. 2003, pp. 426–31. Pubmed, doi:10.1007/s00439-003-1002-9.
Chiba-Falek O, Touchman JW, Nussbaum RL. Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene. Hum Genet. 2003 Oct;113(5):426–431.
Journal cover image

Published In

Hum Genet

DOI

ISSN

0340-6717

Publication Date

October 2003

Volume

113

Issue

5

Start / End Page

426 / 431

Location

Germany

Related Subject Headings

  • alpha-Synuclein
  • Tumor Cells, Cultured
  • Transfection
  • Synucleins
  • Pedigree
  • Neuroblastoma
  • Nerve Tissue Proteins
  • Molecular Sequence Data
  • Microsatellite Repeats
  • Male