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

doi:10.1006/geno.1998.5266

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 journal › Article

39 Scopus citations

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 language	English (US)
Pages (from-to)	321-326
Number of pages	6
Journal	Genomics
Volume	49
Issue number	2
DOIs	https://doi.org/10.1006/geno.1998.5266
State	Published - Apr 15 1998
Externally published	Yes

ASJC Scopus subject areas

Genetics

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Ikeuchi, T., Sanpei, K., Takano, H., Sasaki, H., Tashiro, K., Cancel, G., Brice, A., Bird, T. D., Schellenberg, G. D., Pericak-Vance, M. A., Welsh-Bohmer, K. A., Clark, L. N., Wilhelmsen, K., & 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 journal › Article

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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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.",

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AU - Pericak-Vance, Margaret A.

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