A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q

Takeshi Ikeuchi, Kazuhiro Sanpei, Hiroki Takano, Hidenao Sasaki, Kunio Tashiro, Géraldine Cancel, Alexis Brice, Thomas D. Bird, Gerry D. Schellenberg, Margaret A Pericak-Vance, Kathleen A. Welsh-Bohmer, Lorraine N. Clark, Kirk Wilhelmsen, Shoji Tsuji

Research output: Contribution to journalArticle

39 Citations (Scopus)

Abstract

Using the direct identification of repeat expansion and cloning technique, we cloned a novel long CAG/CTG trinucleotide repeat on chromosome 17. Using radiation hybrid panels, the CAG/CTG repeat was mapped to chromosome 17q. The CAG/CTG repeat is highly polymorphic, with a heterozygosity of 85%, and exhibits a bimodal distribution (allele S, 10-26 repeat units, and allele L, 50-92 repeat units). The CAG/CTG repeat of allele L exhibited intergenerational instabilities, which are more prominent in maternal transmission than in paternal transmission. Analyses of Northern blot and RT-PCR indicate that the repeat is transcribed. Although the size of the CAG/CTG repeat of allele L is within the range of the expanded CAG repeat of disease-causing genes, we did not detect any association of allele L with various neurodegenerative diseases, including frontotemporal dementia and parkinsonism, mapped to 17q21-q23.

Original languageEnglish
Pages (from-to)321-326
Number of pages6
JournalGenomics
Volume49
Issue number2
DOIs
StatePublished - Apr 15 1998
Externally publishedYes

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Trinucleotide Repeats
Chromosomes
Alleles
Radiation Hybrid Mapping
Frontotemporal Dementia
Chromosomes, Human, Pair 17
Nucleic Acid Repetitive Sequences
Parkinsonian Disorders
Neurodegenerative Diseases
Northern Blotting
Organism Cloning
Mothers
Polymerase Chain Reaction
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Ikeuchi, T., Sanpei, K., Takano, H., Sasaki, H., Tashiro, K., Cancel, G., ... Tsuji, S. (1998). A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q. Genomics, 49(2), 321-326. https://doi.org/10.1006/geno.1998.5266

A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q. / Ikeuchi, Takeshi; Sanpei, Kazuhiro; Takano, Hiroki; Sasaki, Hidenao; Tashiro, Kunio; Cancel, Géraldine; Brice, Alexis; Bird, Thomas D.; Schellenberg, Gerry D.; Pericak-Vance, Margaret A; Welsh-Bohmer, Kathleen A.; Clark, Lorraine N.; Wilhelmsen, Kirk; Tsuji, Shoji.

In: Genomics, Vol. 49, No. 2, 15.04.1998, p. 321-326.

Research output: Contribution to journalArticle

Ikeuchi, T, Sanpei, K, Takano, H, Sasaki, H, Tashiro, K, Cancel, G, Brice, A, Bird, TD, Schellenberg, GD, Pericak-Vance, MA, Welsh-Bohmer, KA, Clark, LN, Wilhelmsen, K & Tsuji, S 1998, 'A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q', Genomics, vol. 49, no. 2, pp. 321-326. https://doi.org/10.1006/geno.1998.5266
Ikeuchi T, Sanpei K, Takano H, Sasaki H, Tashiro K, Cancel G et al. A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q. Genomics. 1998 Apr 15;49(2):321-326. https://doi.org/10.1006/geno.1998.5266
Ikeuchi, Takeshi ; Sanpei, Kazuhiro ; Takano, Hiroki ; Sasaki, Hidenao ; Tashiro, Kunio ; Cancel, Géraldine ; Brice, Alexis ; Bird, Thomas D. ; Schellenberg, Gerry D. ; Pericak-Vance, Margaret A ; Welsh-Bohmer, Kathleen A. ; Clark, Lorraine N. ; Wilhelmsen, Kirk ; Tsuji, Shoji. / A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q. In: Genomics. 1998 ; Vol. 49, No. 2. pp. 321-326.
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