CTG repeats show bimodal amplification in E. coli

Partha Sarkar, Haw Chin Chang, F. Brian Boudi, Sita Reddy

Research output: Contribution to journalArticle

62 Citations (Scopus)

Abstract

Trinucleotide repeats in human genetic disorders showing anticipation follow two inheritance patterns as a function of length. Inheritance of 35- 50 repeats show incremental changes, while tracts greater than 80 repeats show large saltatory expansions. We describe a bacterial system that recapitulates this striking bimodal pattern of CTG amplification. Incremental expansions predominate in CTG tracts < Okazaki fragment size, while saltatory expansions increase in repeat tracts ≥ Okazaki fragment size. CTG amplification requires loss of SbcC, a protein that modulates cleavage of single-stranded DNA and degradation of duplex DNA from double-strand breaks. These results suggest that noncanonical single strand-containing secondary structures in Okazaki fragments and/or double-strand breaks in repeat tracts are intermediates in CTG amplification.

Original languageEnglish (US)
Pages (from-to)531-540
Number of pages10
JournalCell
Volume95
Issue number4
StatePublished - Nov 13 1998
Externally publishedYes

Fingerprint

Escherichia coli
Amplification
Trinucleotide Repeats
Inheritance Patterns
Inborn Genetic Diseases
Double-Stranded DNA Breaks
Single-Stranded DNA
Medical Genetics
Degradation
DNA
Okazaki fragments
Proteins

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology

Cite this

Sarkar, P., Chang, H. C., Boudi, F. B., & Reddy, S. (1998). CTG repeats show bimodal amplification in E. coli. Cell, 95(4), 531-540.

CTG repeats show bimodal amplification in E. coli. / Sarkar, Partha; Chang, Haw Chin; Boudi, F. Brian; Reddy, Sita.

In: Cell, Vol. 95, No. 4, 13.11.1998, p. 531-540.

Research output: Contribution to journalArticle

Sarkar, P, Chang, HC, Boudi, FB & Reddy, S 1998, 'CTG repeats show bimodal amplification in E. coli', Cell, vol. 95, no. 4, pp. 531-540.
Sarkar P, Chang HC, Boudi FB, Reddy S. CTG repeats show bimodal amplification in E. coli. Cell. 1998 Nov 13;95(4):531-540.
Sarkar, Partha ; Chang, Haw Chin ; Boudi, F. Brian ; Reddy, Sita. / CTG repeats show bimodal amplification in E. coli. In: Cell. 1998 ; Vol. 95, No. 4. pp. 531-540.
@article{519bedcabe61476fb29eb67b5393d355,
title = "CTG repeats show bimodal amplification in E. coli",
abstract = "Trinucleotide repeats in human genetic disorders showing anticipation follow two inheritance patterns as a function of length. Inheritance of 35- 50 repeats show incremental changes, while tracts greater than 80 repeats show large saltatory expansions. We describe a bacterial system that recapitulates this striking bimodal pattern of CTG amplification. Incremental expansions predominate in CTG tracts < Okazaki fragment size, while saltatory expansions increase in repeat tracts ≥ Okazaki fragment size. CTG amplification requires loss of SbcC, a protein that modulates cleavage of single-stranded DNA and degradation of duplex DNA from double-strand breaks. These results suggest that noncanonical single strand-containing secondary structures in Okazaki fragments and/or double-strand breaks in repeat tracts are intermediates in CTG amplification.",
author = "Partha Sarkar and Chang, {Haw Chin} and Boudi, {F. Brian} and Sita Reddy",
year = "1998",
month = "11",
day = "13",
language = "English (US)",
volume = "95",
pages = "531--540",
journal = "Cell",
issn = "0092-8674",
publisher = "Cell Press",
number = "4",

}

TY - JOUR

T1 - CTG repeats show bimodal amplification in E. coli

AU - Sarkar, Partha

AU - Chang, Haw Chin

AU - Boudi, F. Brian

AU - Reddy, Sita

PY - 1998/11/13

Y1 - 1998/11/13

N2 - Trinucleotide repeats in human genetic disorders showing anticipation follow two inheritance patterns as a function of length. Inheritance of 35- 50 repeats show incremental changes, while tracts greater than 80 repeats show large saltatory expansions. We describe a bacterial system that recapitulates this striking bimodal pattern of CTG amplification. Incremental expansions predominate in CTG tracts < Okazaki fragment size, while saltatory expansions increase in repeat tracts ≥ Okazaki fragment size. CTG amplification requires loss of SbcC, a protein that modulates cleavage of single-stranded DNA and degradation of duplex DNA from double-strand breaks. These results suggest that noncanonical single strand-containing secondary structures in Okazaki fragments and/or double-strand breaks in repeat tracts are intermediates in CTG amplification.

AB - Trinucleotide repeats in human genetic disorders showing anticipation follow two inheritance patterns as a function of length. Inheritance of 35- 50 repeats show incremental changes, while tracts greater than 80 repeats show large saltatory expansions. We describe a bacterial system that recapitulates this striking bimodal pattern of CTG amplification. Incremental expansions predominate in CTG tracts < Okazaki fragment size, while saltatory expansions increase in repeat tracts ≥ Okazaki fragment size. CTG amplification requires loss of SbcC, a protein that modulates cleavage of single-stranded DNA and degradation of duplex DNA from double-strand breaks. These results suggest that noncanonical single strand-containing secondary structures in Okazaki fragments and/or double-strand breaks in repeat tracts are intermediates in CTG amplification.

UR - http://www.scopus.com/inward/record.url?scp=0032514990&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0032514990&partnerID=8YFLogxK

M3 - Article

VL - 95

SP - 531

EP - 540

JO - Cell

JF - Cell

SN - 0092-8674

IS - 4

ER -