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

Hussman Institute for Human Genomics

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

Fingerprint

ASJC Scopus subject areas

Genetics

Cite this

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.

@article{d51e466c8b7f4a049f5739f1c26f5e21,

title = "A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q",

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.",

author = "Takeshi Ikeuchi and Kazuhiro Sanpei and Hiroki Takano and Hidenao Sasaki and Kunio Tashiro and G{\'e}raldine Cancel and Alexis Brice and Bird, {Thomas D.} and Schellenberg, {Gerry D.} and Pericak-Vance, {Margaret A.} and Welsh-Bohmer, {Kathleen A.} and Clark, {Lorraine N.} and Kirk Wilhelmsen and Shoji Tsuji",

year = "1998",

month = apr

day = "15",

doi = "10.1006/geno.1998.5266",

language = "English (US)",

volume = "49",

pages = "321--326",

journal = "Genomics",

issn = "0888-7543",

publisher = "Academic Press Inc.",

number = "2",

}

TY - JOUR

T1 - A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q

AU - Ikeuchi, Takeshi

AU - Sanpei, Kazuhiro

AU - Takano, Hiroki

AU - Sasaki, Hidenao

AU - Tashiro, Kunio

AU - Cancel, Géraldine

AU - Brice, Alexis

AU - Bird, Thomas D.

AU - Schellenberg, Gerry D.

AU - Pericak-Vance, Margaret A.

AU - Welsh-Bohmer, Kathleen A.

AU - Clark, Lorraine N.

AU - Wilhelmsen, Kirk

AU - Tsuji, Shoji

PY - 1998/4/15

Y1 - 1998/4/15

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=17644447664&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=17644447664&partnerID=8YFLogxK

U2 - 10.1006/geno.1998.5266

DO - 10.1006/geno.1998.5266

M3 - Article

C2 - 9598323

AN - SCOPUS:17644447664

VL - 49

SP - 321

EP - 326

JO - Genomics

JF - Genomics

SN - 0888-7543

IS - 2

ER -

Access to Document

10.1006/geno.1998.5266